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Anzahl der Publikationen: 185
Zeitschriftenartikel
Rooney, James P. K. 
ORCID: https://orcid.org/0000-0001-6346-0731; Geoghegan, Grainne; O’Reilly, Fiona; Heverin, Mark; Böse-O’Reilly, Stephan ORCID: https://orcid.org/0000-0003-0204-3103; Casale, Federico; Chio, Adriano ORCID: https://orcid.org/0000-0001-9579-5341; Günther, Kornelia; Schuster, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Ludolph, Albert; Hardiman, Orla und Rakete, Stefan ORCID: https://orcid.org/0000-0002-4851-513X
(2024):
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations.
In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: S. 1-9
[Forthcoming]
ORCID: https://orcid.org/0000-0001-6346-0731; Geoghegan, Grainne; O’Reilly, Fiona; Heverin, Mark; Böse-O’Reilly, Stephan ORCID: https://orcid.org/0000-0003-0204-3103; Casale, Federico; Chio, Adriano ORCID: https://orcid.org/0000-0001-9579-5341; Günther, Kornelia; Schuster, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Ludolph, Albert; Hardiman, Orla und Rakete, Stefan ORCID: https://orcid.org/0000-0002-4851-513X
(2024):
Serum heat shock protein concentrations are not associated with amyotrophic lateral sclerosis risk or survival in three European populations.
In: Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration: S. 1-9
[Forthcoming]
Yu-Wai-Man, Patrick; Carelli, Valerio; Newman, Nancy J.; Silva, Magda Joana; Linden, Aki; Van Stavern, Gregory; Szaflik, Jacek P.; Banik, Rudrani; Lubinski, Wojciech; Pemp, Berthold; Liao, Yaping Joyce; Subramanian, Prem S.; Misiuk-Hojlo, Marta; Newman, Steven; Castillo, Lorena; Kociecki, Jaroslaw; Levin, Marc H.; Munoz-Negrete, Francisco Jose; Yagan, Ali; Cherninkova, Sylvia; Katz, David; Meunier, Audrey; Votruba, Marcela; Korwin, Magdalena; Dziedziak, Jacek; Jurkute, Neringa; Harvey, Joshua P.; La Morgia, Chiara; Priglinger, Claudia; Lloria, Xavier; Tomasso, Livia und Klopstock, Thomas
(2024):
Therapeutic benefit of idebenone in patients with Leber hereditary optic neuropathy: The LEROS nonrandomized controlled trial.
In: Cell Reports Medicine, Bd. 5, Nr. 3, 101437
[PDF, 3MB]
Aleo, Serena Jasmine; Dotto, Valentina Del; Romagnoli, Martina; Fiorini, Claudio; Capirossi, Giada; Peron, Camille; Maresca, Alessandra; Caporali, Leonardo; Capristo, Mariantonietta; Tropeano, Concetta Valentina; Zanna, Claudia; Ross-Cisneros, Fred N.; Sadun, Alfredo A.; Pignataro, Maria Gemma; Giordano, Carla; Fasano, Chiara; Cavaliere, Andrea; Porcelli, Anna Maria; Tioli, Gaia; Musiani, Francesco; Catania, Alessia; Lamperti, Costanza; Marzoli, Stefania Bianchi; Negri, Annamaria De; Cascavilla, Maria Lucia; Battista, Marco; Barboni, Piero; Carbonelli, Michele; Amore, Giulia; Morgia, Chiara La; Smirnov, Dmitrii; Vasilescu, Catalina; Farzeen, Aiman; Blickhaeuser, Beryll; Prokisch, Holger; Priglinger, Claudia; Livonius, Bettina; Catarino, Claudia B.; Klopstock, Thomas; Tiranti, Valeria; Carelli, Valerio und Maria, Anna
(2024):
Genetic variants affecting NQO1 protein levels impact the efficacy of idebenone treatment in Leber hereditary optic neuropathy.
In: Cell Reports Medicine, Bd. 5, Nr. 2, 101383
[PDF, 5MB]
Wiesenfarth, Maximilian; Dorst, Johannes; Brenner, David; Elmas, Zeynep; Parlak, Oezlem; Uzelac, Zeljko; Kandler, Katharina; Mayer, Kristina; Weiland, Ulrike; Herrmann, Christine; Schuster, Joachim; Freischmidt, Axel; Mueller, Kathrin; Siebert, Reiner; Bachhuber, Franziska; Simak, Tatiana; Guenther, Kornelia; Froehlich, Elke; Knehr, Antje; Regensburger, Martin; German, Alexander; Petri, Susanne; Grosskreutz, Julian; Klopstock, Thomas; Reilich, Peter; Schoeberl, Florian; Hagenacker, Tim; Weyen, Ute; Guenther, Rene; Vidovic, Maximilian; Jentsch, Martin; Haarmeier, Thomas; Weydt, Patrick; Valkadinov, Ivan; Hesebeck-Brinckmann, Jasper; Conrad, Julian; Weishaupt, Jochen Hans; Schumann, Peggy; Koertvelyessy, Peter; Meyer, Thomas; Ruf, Wolfgang Philipp; Witzel, Simon; Senel, Makbule; Tumani, Hayrettin und Ludolph, Albert Christian
(2024):
Effects of tofersen treatment in patients with SOD1-ALS in a real-world setting - a 12-month multicenter cohort study from the German early access program.
In: Eclinicalmedicine, Bd. 69, 102495
[PDF, 1MB]
Iankova, Vassilena; Sparber, Peter; Rohani, Mohammad; Dusek, Petr; Buechner, Boriana; Karin, Ivan; Schneider, Susanne A.; Gorriz, Juan M.; Kmiec, Tomasz und Klopstock, Thomas
(2024):
Phenotype and natural history of mitochondrial membrane protein-associated neurodegeneration.
In: Brain, Bd. 147, Nr. 4: S. 1389-1398
Mancuso, Michelangelo; Lopriore, Piervito; Lamperti, Costanza; Klopstock, Thomas; Rahman, Shamima; Licchetta, Laura; Kornblum, Cornelia; Wortmann, Saskia B.; Dollfus, Helene; Papadopoulou, Maria T.; Arzimanoglou, Alexis; Scarpa, Maurizio; Graessner, Holm und Evangelista, Teresinha
(2024):
Current management of primary mitochondrial disorders in EU countries: the European Reference Networks survey.
In: Journal of Neurology, Bd. 271, Nr. 2: S. 835-840
[PDF, 2MB]
Blickhaeuser, Beryll; Stenton, Sarah L.; Neuhofer, Christiane M.; Floride, Elisa; Nesbitt, Victoria; Fratter, Carl; Koch, Johannes; Kauffmann, Birgit; Catarino, Claudia; Schlieben, Lea Dewi; Kopajtich, Robert; Carelli, Valerio; Sadun, Alfredo A.; McFarland, Robert; Fang, Fang; La Morgia, Chiara; Paquay, Stephanie; Nassogne, Marie Cecile; Ghezzi, Daniele; Lamperti, Costanza; Wortmann, Saskia; Poulton, Jo; Klopstock, Thomas und Prokisch, Holger
(2024):
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
In: Brain
[PDF, 555kB]
Traschuetz, Andreas; Fleszar, Zofia; Hengel, Holger; Klockgether, Thomas; Erdlenbruch, Friedrich; Falkenburger, Bjoern H.; Klopstock, Thomas; Oztop-Cakmak, Ozgur; Pedroso, Jose Luiz; Santorelli, Filippo M.; Schoels, Ludger und Synofzik, Matthis
(2024):
FARS-ADL across Ataxias: Construct Validity, Sensitivity to Change, and Minimal Important Change.
In: Movement Disorders
[PDF, 772kB]
Mancuso, Michelangelo; Papadopoulou, Maria T.; Ng, Yi Shiau; Ardissone, Anna; Bellusci, Marcello; Bertini, Enrico; Di Vito, Lidia; Evangelista, Teresinha; Fons, Carmen; Hikmat, Omar; Horvath, Rita; Klopstock, Thomas; Kornblum, Cornelia; Lamperti, Costanza; Licchetta, Laura; Molnar, Maria Judit; Varhaug, Kristin N.; O'Callaghan, Mar; Pressler, Ronit M.; Schiff, Manuel; Servidei, Serenella; Szabo, Nora; Gorman, Grainne S.; Cross, J. Helen und Rahman, Shamima
(2024):
Management of seizures in patients with primary mitochondrial diseases: consensus statement from the InterERNs Mitochondrial Working Group.
In: European Journal of Neurology
[PDF, 3MB]
Graessner, Holm; Reinhard, Carola; Baeumer, Tobias; Baumgaertner, Annette; Brockmann, Knut; Brueggemann, Norbert; Bueltmann, Eva; Erdmann, Jeanette; Heise, Kirstin; Hoeglinger, Guenter; Huening, Irina; Kaiser, Frank J.; Klein, Christine; Klopstock, Thomas; Kraegeloh-Mann, Ingeborg; Kraemer, Markus; Luedtke, Kerstin; Muecke, Martin; Musacchio, Thomas; Nadke, Andreas; Osmanovic, Alma; Ritter, Gabriele; Roese, Katharina; Schippers, Christopher; Schoels, Ludger; Schuele, Rebecca; Schulz, Jorg B.; Spross, Joachim; Stasch, Eveline; Wunderlich, Gilbert und Muenchau, Alexander
(2024):
Recommendations for optimal interdisciplinary management and healthcare settings for patients with rare neurological diseases.
In: Orphanet Journal of Rare Diseases, Bd. 19, Nr. 1, 62
[PDF, 899kB]
Figueroa, Karla P.; Gross, Caspar ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
ORCID: https://orcid.org/0000-0002-9009-5458; Buena-Atienza, Elena ORCID: https://orcid.org/0000-0002-9890-1960; Paul, Sharan; Gandelman, Mandi; Kakar, Naseebullah; Sturm, Marc ORCID: https://orcid.org/0000-0002-6552-8362; Casadei, Nicolas; Admard, Jakob ORCID: https://orcid.org/0000-0003-0466-582X; Park, Joohyun; Zühlke, Christine; Hellenbroich, Yorck; Pozojevic, Jelena; Balachandran, Saranya ORCID: https://orcid.org/0009-0002-4905-3093; Händler, Kristian ORCID: https://orcid.org/0000-0001-5273-5277; Zittel, Simone ORCID: https://orcid.org/0000-0002-3767-6376; Timmann, Dagmar; Erdlenbruch, Friedrich ORCID: https://orcid.org/0009-0006-0654-836X; Herrmann, Laura; Feindt, Thomas; Zenker, Martin ORCID: https://orcid.org/0000-0003-1618-9269; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Dufke, Claudia ORCID: https://orcid.org/0000-0001-5225-2443; Scoles, Daniel R.; Koeppen, Arnulf; Spielmann, Malte ORCID: https://orcid.org/0000-0002-0583-4683; Riess, Olaf ORCID: https://orcid.org/0000-0002-7011-1369; Ossowski, Stephan; Haack, Tobias B. ORCID: https://orcid.org/0000-0001-6033-4836 und Pulst, Stefan M. ORCID: https://orcid.org/0000-0003-0883-7879
(2024):
A GGC-repeat expansion in ZFHX3 encoding polyglycine causes spinocerebellar ataxia type 4 and impairs autophagy.
In: Nature Genetics [Forthcoming]
Wiesenfarth, Maximilian; Guenther, Kornelia; Mueller, Kathrin; Witzel, Simon; Weiland, Ulrike; Mayer, Kristina; Herrmann, Christine; Brenner, David; Schuster, Joachim; Freischmidt, Axel; Lule, Dorothee; Meyer, Thomas; Regensburger, Martin; Grehl, Torsten; Emmer, Alexander; Petri, Susanne; Grosskreutz, Julian; Roediger, Annekathrin; Steinbach, Robert; Klopstock, Thomas; Reilich, Peter; Schoeberl, Florian; Wolf, Joachim; Hagenacker, Tim; Weyen, Ute; Zeller, Daniel; Ludolph, Albert C. und Dorst, Johannes
(2023):
Clinical and genetic features of amyotrophic lateral sclerosis patients with C9orf72 mutations.
In: Brain Communications, Bd. 5, Nr. 2, fcad087
[PDF, 806kB]
Silva, Magda; Lloria, Xavier und Klopstock, Thomas
(2023):
Kaplan-Meier Statistics to Estimate Treatment Success: Response.
In: Journal of Neuro-Ophthalmology, Bd. 43, Nr. 4, e361-e362
Zibold, Julia; Lessard, Lola E. R.; Picard, Flavien; da Silva, Lara Gruijs; Zadorozhna, Yelyzaveta; Streichenberger, Nathalie; Belotti, Edwige; Osseni, Alexis; Emerit, Andrea; Errazuriz-Cerda, Elisabeth; Michel-Calemard, Laurence; Menassa, Rita; Coudert, Laurent; Wiessner, Manuela; Stucka, Rolf; Klopstock, Thomas; Simonetti, Francesca; Hutten, Saskia; Nonaka, Takashi; Hasegawa, Masato; Strom, Tim M.; Bernard, Emilien; Ollagnon, Elisabeth; Urtizberea, Andoni; Dormann, Dorothee; Petiot, Philippe; Schaeffer, Laurent; Senderek, Jan und Leblanc, Pascal
(2023):
The new missense G376V-TDP-43 variant induces late-onset distal myopathy but not amyotrophic lateral sclerosis.
In: Brain
[PDF, 1MB]
Karaa, Amel; Bertini, Enrico; Carelli, Valerio; Cohen, Bruce H.; Enns, Gregory M.; Falk, Marni J.; Goldstein, Amy; Gorman, Grainne Siobhan; Haas, Richard; Hirano, Michio; Klopstock, Thomas; Koenig, Mary Kay; Kornblum, Cornelia; Lamperti, Costanza; Lehman, Anna; Longo, Nicola; Molnar, Maria Judit; Parikh, Sumit; Phan, Han; Pitceathly, Robert D. S.; Saneto, Russell; Scaglia, Fernando; Servidei, Serenella; Tarnopolsky, Mark; Toscano, Antonio; Van Hove, Johan L. K.; Vissing, John; Vockley, Jerry; Finman, Jeffrey S.; Brown, David A.; Shiffer, James A. und Mancuso, Michelango
(2023):
Efficacy and Safety of Elamipretide in Individuals With Primary Mitochondrial Myopathy The MMPOWER-3 Randomized Clinical Trial.
In: Neurology, Bd. 101, Nr. 3, E238-E252
[PDF, 661kB]
Riemenschneider, Henrick; Simonetti, Francesca; Sheth, Udit; Katona, Eszter; Roth, Stefan; Hutten, Saskia; Farny, Daniel; Michaelsen, Meike; Nuscher, Brigitte; Schmidt, Michael K.; Flatley, Andrew; Schepers, Aloys; da Silva, Lara Gruijs A.; Zhou, Qihui; Klopstock, Thomas; Liesz, Arthur; Arzberger, Thomas; Herms, Jochen; Feederle, Regina; Gendron, Tania F.; Dormann, Dorothee und Edbauer, Dieter
(2023):
Targeting the glycine-rich domain of TDP-43 with antibodies prevents its aggregation in vitro and reduces neurofilament levels in vivo.
In: Acta Neuropathologica Communications, Bd. 11, Nr. 1, 112
[PDF, 6MB]
Zanuttigh, Enrica; Derderian, Kevork; Guera, Miriam A.; Geerlof, Arie; Di Meo, Ivano; Cavestro, Chiara; Hempfling, Stefan; Ortiz-Collazos, Stephanie; Mauthe, Mario; Kmiec, Tomasz; Cammarota, Eugenia; Panzeri, Maria Carla; Klopstock, Thomas; Sattler, Michael; Winkelmann, Juliane; Messias, Ana C. und Iuso, Arcangela
(2023):
Identification of Autophagy as a Functional Target Suitable for the Pharmacological Treatment of Mitochondrial Membrane Protein-Associated Neurodegeneration (MPAN) In Vitro.
In: Pharmaceutics, Bd. 15, Nr. 1, 267
[PDF, 3MB]
Vignal-Clermont, Catherine; Yu-Wai-Man, Patrick; Newman, Nancy J.; Carelli, Valerio; Moster, Mark L.; Biousse, Valerie; Subramanian, Prem S.; Wang, An-Guor; Donahue, Sean P.; Leroy, Bart P.; Sadun, Alfredo A.; Klopstock, Thomas; Sergott, Robert C.; Fernandez, Gema Rebolleda; Chwalisz, Bart K.; Banik, Rudrani; Taiel, Magali; Roux, Michel und Sahel, Jose-Alain
(2023):
Safety of Lenadogene Nolparvovec Gene Therapy Over 5 Years in 189 Patients With Leber Hereditary Optic Neuropathy.
In: American Journal of Ophthalmology, Bd. 249: S. 108-125
[PDF, 1MB]
Cunha, Paulina; Petit, Emilien; Coutelier, Marie; Coarelli, Giulia; Mariotti, Caterina; Faber, Jennifer; Van Gaalen, Judith; Damasio, Joana; Fleszar, Zofia; Tosi, Michele; Rocca, Clarissa; De Michele, Giovanna; Minnerop, Martina; Ewenczyk, Claire; Santorelli, Filippo M.; Heinzmann, Anna; Bird, Thomas; Amprosi, Matthias; Indelicato, Elisabetta; Benussi, Alberto; Charles, Perrine; Stendel, Claudia; Romano, Silvia; Scarlato, Marina; Le Ber, Isabelle; Bassi, Maria Teresa; Serrano, Mercedes; Schmitz-Hubsch, Tanja; Doss, Sarah; Van Velzen, Gijs A. J.; Thomas, Quentin; Trabacca, Antonio; Ortigoza-Escobar, Juan Dario; D'Arrigo, Stefano; Timmann, Dagmar; Pantaleoni, Chiara; Martinuzzi, Andrea; Besse-Pinot, Elsa; Marsili, Luca; Cioffi, Ettore; Nicita, Francesco; Giorgetti, Alejandro; Moroni, Isabella; Romaniello, Romina; Casali, Carlo; Ponger, Penina; Casari, Giorgio; De Bot, Susanne T.; Ristori, Giovanni; Blumkin, Lubov; Borroni, Barbara; Goizet, Cyril; Marelli, Cecilia; Boesch, Sylvia; Anheim, Mathieu; Filla, Alessandro; Houlden, Henry; Bertini, Enrico; Klopstock, Thomas; Synofzik, Matthis; Riant, Florence; Zanni, Ginevra; Magri, Stefania; Di Bella, Daniela; Nanetti, Lorenzo; Sequeiros, Jorge; Oliveira, Jorge; Warrenburg, Bart Van de; Schoels, Ludger; Taroni, Franco; Brice, Alexis und Durr, Alexandra
(2023):
Extreme phenotypic heterogeneity in non-expansion spinocerebellar ataxias.
In: American Journal of Human Genetics, Bd. 110, Nr. 7:
1098-+
Heinrich, Felix; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroeter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Radelfahr, Florentine; Schoenfelder, Erik; Gardt, Pavel; Mohajer-Peseschkian, Tara; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Schoeffski, Oliver; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2023):
Economic evaluation of Motor Neuron Diseases: a nationwide cross-sectional analysis in Germany.
In: Journal of Neurology, Bd. 270, Nr. 10: S. 4922-4938
[PDF, 2MB]
Traschuetz, Andreas; Adarmes-Gomez, Astrid D.; Anheim, Mathieu; Baets, Jonathan; Falkenburger, Bjoern H.; Gburek-Augustat, Janina; Doss, Sarah; Kamm, Christoph; Klivenyi, Peter; Grobe-Einsler, Marcus; Klopstock, Thomas; Minnerop, Martina; Munchau, Alexander; Pane, Chiara; Renaud, Mathilde; Santorelli, Filippo M.; Schoels, Ludger; Timmann, Dagmar; Vielhaber, Stefan; Haack, Tobias B.; van de Warrenburg, Bart P.; Zanni, Ginevra und Synofzik, Matthis
(2023):
Autosomal Recessive Cerebellar Ataxias in Europe: Frequency, Onset, and Severity in 677 Patients.
In: Movement Disorders, Bd. 38, Nr. 6: S. 1109-1112
[PDF, 883kB]
Oender, Demet; Faber, Jennifer; Wilke, Carlo; Schaprian, Tamara; Lakghomi, Asadeh; Mengel, David; Schoels, Ludger; Traschuetz, Andreas; Fleszar, Zofia; Dufke, Claudia; Vielhaber, Stefan; Machts, Judith; Giordano, Ilaria; Grobe-Einsler, Marcus; Klopstock, Thomas; Stendel, Claudia; Boesch, Sylvia; Nachbauer, Wolfgang; Timmann-Braun, Dagmar; Thieme, Andreas Gustafsson; Kamm, Christoph; Dudesek, Ales; Tallaksen, Chantal; Wedding, Iselin; Filla, Alessandro; Schmid, Matthias; Synofzik, Matthis und Klockgether, Thomas
(2023):
Evolution of Clinical Outcome Measures and Biomarkers in Sporadic Adult-Onset Degenerative Ataxia.
In: Movement Disorders, Bd. 38, Nr. 4: S. 654-664
[PDF, 913kB]
Traschuetz, Andreas D.; Adarmes-Gomez, Astrid; Anheim, Mathieu; Baets, Jonathan; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Doss, Sarah; Hanagasi, Hasmet A.; Kamm, Christoph; Klivenyi, Peter; Klockgether, Thomas; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde M.; Santorelli, Filippo; Schoels, Ludger; Thieme, Andreas; Vielhaber, Stefan P.; van de Warrenburg, Bart; Zanni, Ginevra; Hilgers, Ralf-Dieter und Synofzik, Matthis
(2023):
Responsiveness of the Scale for the Assessment and Rating of Ataxia and Natural History in 884 Recessive and Early Onset Ataxia Patients.
In: Annals of Neurology, Bd. 94, Nr. 3: S. 470-485
[PDF, 5MB]
Porcu, Luca; Fichera, Mario; Nanetti, Lorenzo; Rulli, Eliana; Giunti, Paola; Parkinson, Michael H.; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Indelicato, Elisabetta; Klopstock, Thomas; Stendel, Claudia; de Rivera, Francisco Javier Rodriguez; Schoels, Ludger; Fleszar, Zofia; Giordano, Ilaria; Didszun, Claire; Castaldo, Anna; Rai, Myriam; Klockgether, Thomas; Pandolfo, Massimo; Schulz, Joerg B.; Reetz, Kathrin und Mariotti, Caterina
(2023):
Longitudinal changes of SARA scale in Friedreich ataxia: Strong influence of baseline score and age at onset.
In: Annals of Clinical and Translational Neurology, Bd. 10, Nr. 11: S. 2000-2012
[PDF, 1MB]
Karaa, Amel und Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652
(2023):
Clinical trials in mitochondrial diseases.
In: Handbook of Clinical Neurology, Bd. 194: S. 229-250
ORCID: https://orcid.org/0000-0003-2805-4652
(2023):
Clinical trials in mitochondrial diseases.
In: Handbook of Clinical Neurology, Bd. 194: S. 229-250
Distelmaier, Felix und Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652
(2023):
Neuroimaging in mitochondrial disease.
In: Handbook of Clinical Neurology, Bd. 194: S. 173-185
ORCID: https://orcid.org/0000-0003-2805-4652
(2023):
Neuroimaging in mitochondrial disease.
In: Handbook of Clinical Neurology, Bd. 194: S. 173-185
Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-0753-2408; Siedlecki, Jakob; Catarino, Claudia; Livonius, Bettina von; Muth, Daniel R.; Rudolph, Guenther; Havla, Joachim; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652 und Priglinger, Claudia
(2023):
Age‐dependent retinal neuroaxonal degeneration in children and adolescents with Leber hereditary optic neuropathy under idebenone therapy.
In: European Journal of Neurology, Bd. 30, Nr. 8: S. 2525-2533
[PDF, 1MB]
Zibold, Julia; Livonius, Bettina von; Kolarova, Hana; Rudolph, Günter; Priglinger, Claudia S.; Klopstock, Thomas und Catarino, Claudia B.
(9. August 2022):
Vitamin B12 in Leber hereditary optic neuropathy mutation carriers: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 17
[PDF, 951kB]
Drovandi, Stefania; Lipska-Zietkiewicz, Beata S.; Ozaltin, Fatih; Emma, Francesco; Gulhan, Bora; Boyer, Olivia; Trautmann, Agnes; Zietkiewicz, Szymon; Xu, Hong; Shen, Qian; Rao, Jia; Riedhammer, Korbinian M.; Heemann, Uwe; Hoefele, Julia; Stenton, Sarah L.; Tsygin, Alexey N.; Ng, Kar-Hui; Fomina, Svitlana; Benetti, Elisa; Aurelle, Manon; Prikhodina, Larisa; Schijvens, Anne M.; Tabatabaeifar, Mansoureh; Jankowski, Maciej; Baiko, Sergey; Mao, Jianhua; Feng, Chunyue; Deng, Fang; Rousset-Rouviere, Caroline; Stanczyk, Malgorzata; Balasz-Chmielewska, Irena; Fila, Marc; Durkan, Anne M.; Levart, Tanja Kersnik; Dursun, Ismail; Esfandiar, Nasrin; Haas, Dorothea; Bjerre, Anna; Anarat, Ali; Benz, Marcus R.; Talebi, Saeed; Hooman, Nakysa; Ariceta, Gema; Serna Higuita, Lina Maria; Schaefer, Franz; Trautmann, Agnes; Tabatabaeifar, Mansoureh; Gheissari, Alaleh; Hooman, Nakysa; Benetti, Elisa; Emma, Francesco; Nigmatullina, Nazym; Tkaczyk, Marcin; Borzecka, Halina; Tsygin, Alexey N.; Prikhodina, Larisa; Bogdanovic, Radovan; Mir, Sevgi; Fomina, Svitlana; Klopstock, Thomas; Prokisch, Holger; Kornblum, Cornelia; Liu, Cui-Hua; Sun, Shu-Zhen; Dong, Yang; Wang, Xiao-Wen; Luan, Jiang-Wei und Schaefer, Franz
(2022):
Variation of the clinical spectrum and genotype-phenotype associations in Coenzyme Q10 deficiency associated glomerulopathy.
In: Kidney International, Bd. 102, Nr. 3: S. 592-603
Wise, Rachel M.; Wagener, Annika; Fietzek, Urban M.; Klopstock, Thomas; Mosharov, Eugene V.; Zucca, Fabio A.; Sulzer, David; Zecca, Luigi und Burbulla, Lena F.
(2022):
Interactions of dopamine, iron, and alpha-synuclein linked to dopaminergic neuron vulnerability in Parkinson's disease and Neurodegeneration with Brain Iron Accumulation disorders.
In: Neurobiology of Disease, Bd. 175
[PDF, 1MB]
Siedlecki, Jakob ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
ORCID: https://orcid.org/0000-0002-0279-4823; Koenig, Susanna; Catarino, Claudia; Schaumberger, Markus M.; Schworm, Benedikt ORCID: https://orcid.org/0000-0003-0753-2408; Priglinger, Siegfried Georg; Rudolph, Guenther; Livonius, Bettina von; Klopstock, Thomas und Priglinger, Claudia S.
(2022):
Childhood versus early-teenage onset Leber’s hereditary optic neuropathy: visual prognosis and capacity for recovery.
In: British Journal of Ophthalmology, Bd. 107, Nr. 7: S. 1031-1034
Vondel, Liedewei van de; De Winter, Jonathan; Beijer, Danique; Coarelli, Giulia; Wayand, Melanie; Palvadeau, Robin; Pauly, Martje G.; Klein, Katrin; Rautenberg, Maren; Guillot-Noel, Lena; Deconinck, Tine; Vural, Atay; Ertan, Sibel; Dogu, Okan; Uysal, Hilmi; Brankovic, Vesna; Herzog, Rebecca; Brice, Alexis; Durr, Alexandra; Klebe, Stephan; Stock, Friedrich; Bischoff, Almut Turid; Rattay, Tim W.; Sobrido, Maria-Jesus; De Michele, Giovanna; De Jonghe, Peter; Klopstock, Thomas; Lohmann, Katja; Zanni, Ginevra; Santorelli, Filippo M.; Timmerman, Vincent; Haack, Tobias B.; Zuchner, Stephan; Schuele, Rebecca; Stevanin, Giovanni; Synofzik, Matthis; Basak, A. Nazli und Baets, Jonathan
(2022):
De Novo and Dominantly Inherited SPTAN1 Mutations Cause Spastic Paraplegia and Cerebellar Ataxia.
In: Movement Disorders, Bd. 37, Nr. 6: S. 1175-1186
[PDF, 1MB]
Cordts, Isabell; Oender, Demet; Traschuetz, Andreas; Kobeleva, Xenia; Karin, Ivan; Minnerop, Martina; Koertvelyessy, Peter; Biskup, Saskia; Forchhammer, Stephan; Binder, Johannes; Tzschach, Andreas; Meiss, Frank; Schmidt, Axel; Kreiss, Martina; Cremer, Kirsten; Mensah, Martin A.; Park, Joohyun; Rautenberg, Maren; Deininger, Natalie; Sturm, Marc; Lingor, Paul; Klopstock, Thomas; Weiler, Markus; Marxreiter, Franz; Synofzik, Matthis; Posch, Christian; Sirokay, Judith; Klockgether, Thomas; Haack, Tobias B. und Deschauer, Marcus
(2022):
Adult-Onset Neurodegeneration in Nucleotide Excision Repair Disorders (NERDND): Time to Move Beyond the Skin.
In: Movement Disorders, Bd. 37, Nr. 8: S. 1707-1718
[PDF, 7MB]
Carelli, Valerio; Newman, Nancy J.; Yu-Wai-Man, Patrick; Biousse, Valerie; Moster, Mark L.; Subramanian, Prem S.; Vignal-Clermont, Catherine; Wang, An-Guor; Donahue, Sean P.; Leroy, Bart P.; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Fernandez, Gema Rebolleda; Chwalisz, Bart K.; Banik, Rudrani; Girmens, Jean Francois; La Morgia, Chiara; DeBusk, Adam A.; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, Francois; Roux, Michel; Taiel, Magali; Sahel, Jose-Alain und Group, The Lhon Study
(2022):
Indirect Comparison of Lenadogene Nolparvovec Gene Therapy Versus Natural History in Patients with Leber Hereditary Optic Neuropathy Carrying the m.11778G > A MT-ND4 Mutation.
In: Ophthalmology and Therapy, Bd. 12, Nr. 1: S. 401-429
[PDF, 719kB]
Kolarova, Hana; Tan, Jing; Strom, Tim M.; Meitinger, Thomas; Wagner, Matias und Klopstock, Thomas
(2022):
Lifetime risk of autosomal recessive neurodegeneration with brain iron accumulation (NBIA) disorders calculated from genetic databases.
In: Ebiomedicine, Bd. 77, 103869
[PDF, 934kB]
Hohenfeld, Christian; Terstiege, Ulrich; Dogan, Imis; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Fichera, Mario; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo; Rauhut, Holger ORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-4750-5092; Schulz, Joerg B. und Reetz, Kathrin
(2022):
Prediction of the disease course in Friedreich ataxia.
In: Scientific Reports, Bd. 12, Nr. 1, 19173
[PDF, 1MB]
Stenton, Sarah L.; Tesarova, Marketa; Sheremet, Natalia L.; Catarino, Claudia; Carelli, Valerio; Ciara, Elzbieta; Curry, Kathryn; Engvall, Martin; Fleming, Leah R.; Freisinger, Peter; Iwanicka-Pronicka, Katarzyna; Jurkiewicz, Elzbieta; Klopstock, Thomas; Koenig, Mary K.; Kolarova, Hana; Kousal, Bohdan; Krylova, Tatiana; La Morgia, Chiara; Noskova, Lenka; Piekutowska-Abramczuk, Dorota; Russo, Sam N.; Stranecky, Viktor; Tothova, Iveta; Traisk, Frank und Prokisch, Holger
(2022):
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
In: Brain, Bd. 145, Nr. 5: S. 1624-1631
[PDF, 848kB]
Alves, C. A. P. F.; Sherbini, O.; D'Arco, F.; Steel, D.; Kurian, M. A.; Radio, F. C.; Ferrero, G. B.; Carli, D.; Tartaglia, M.; Balci, T. B.; Powell-Hamilton, N. N.; Vergano, S. A. Schrier; Reutter, H.; Hoefele, J.; Gunthner, R.; Roeder, E. R.; Littlejohn, R. O.; Lessel, D.; Luttgen, S.; Kentros, C.; Anyane-Yeboa, K.; Catarino, C. B.; Mercimek-Andrews, S.; Denecke, J.; Lyons, M. J.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Bhoj, E. J.; Bryant, L. und Vanderver, A.
(2022):
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
In: American Journal of Neuroradiology, Bd. 43, Nr. 7: S. 1048-1053
ORCID: https://orcid.org/0000-0003-2805-4652; Bhoj, E. J.; Bryant, L. und Vanderver, A.
(2022):
Brain Abnormalities in Patients with Germline Variants in H3F3: Novel Imaging Findings and Neurologic Symptoms Beyond Somatic Variants and Brain Tumors.
In: American Journal of Neuroradiology, Bd. 43, Nr. 7: S. 1048-1053
Amprosi, Matthias; Indelicato, Elisabetta; Nachbauer, Wolfgang; Hussl, Anna; Stendel, Claudia; Eigentler, Andreas; Gallenmueller, Constanze; Boesch, Sylvia und Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652
(2022):
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
In: Frontiers in Neurology, Bd. 12, 799953
[PDF, 658kB]
ORCID: https://orcid.org/0000-0003-2805-4652
(2022):
Mast Syndrome Outside the Amish Community: SPG21 in Europe.
In: Frontiers in Neurology, Bd. 12, 799953
[PDF, 658kB]
Karaa, Amel; MacMullen, Laura E. ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
ORCID: https://orcid.org/0000-0003-2458-6889; Campbell, John C.; Christodoulou, John; Cohen, Bruce H.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Koga, Yasutoshi; Lamperti, Costanza; Maanen, Robert van; McFarland, Robert; Parikh, Sumit; Rahman, Shamima; Scaglia, Fernando; Sherman, Alexander V.; Yeske, Philip und Falk, Marni J.
(2022):
Community Consensus Guidelines to Support FAIR Data Standards in Clinical Research Studies in Primary Mitochondrial Disease.
In: Advanced Genetics, Bd. 3, Nr. 1, 2100047
[PDF, 878kB]
Werning, Maike; Dobretzberger, Verena; Brenner, Martin; Mullner, Ernst W.; Mlynek, Georg; Djinovic-Carugo, Kristina; Baron, David M.; Fragner, Lena; Bischoff, Almut T.; Buchner, Boriana; Klopstock, Thomas; Weckwerth, Wolfram und Salzer, Ulrich
(2022):
A Potential Citrate Shunt in Erythrocytes of PKAN Patients Caused by Mutations in Pantothenate Kinase 2.
In: Biomolecules, Bd. 12, Nr. 2, 325
[PDF, 2MB]
Xie, Kan; Fuchs, Helmut; Scifo, Enzo; Liu, Dan; Aziz, Ahmad; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; da Silva-Buttkus, Patricia; Calzada-Wack, Julia; Cho, Yi-Li; Deng, Yushuang; Edwards, A. Cole; Garrett, Lillian; Georgopoulou, Christina; Gerlini, Raffaele; Hoelter, Sabine M.; Klein-Rodewald, Tanja; Kramer, Michael; Leuchtenberger, Stefanie; Lountzi, Dimitra; Mayer-Kuckuk, Phillip; Nover, Lena L.; Oestereicher, Manuela A.; Overkott, Clemens; Pearson, Brandon L.; Rathkolb, Birgit; Rozman, Jan; Russ, Jenny; Schaaf, Kristina; Spielmann, Nadine; Sanz-Moreno, Adrian; Stoeger, Claudia; Treise, Irina; Bano, Daniele; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Mock, Beverly A.; Salomoni, Paolo; Schmidt-Weber, Carsten; Weiergraber, Marco; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valerie; Breteler, Monique M. B.; Hrabe de Angelis, Martin und Ehninger, Dan
(2022):
Deep phenotyping and lifetime trajectories reveal limited effects of longevity regulators on the aging process in C57BL/6J mice.
In: Nature Communications, Bd. 13, Nr. 1, 6830
[PDF, 7MB]
Yepez, Vicente A.; Gusic, Mirjana; Kopajtich, Robert; Mertes, Christian; Smith, Nicholas H.; Alston, Charlotte L.; Ban, Rui; Beblo, Skadi; Berutti, Riccardo; Blessing, Holger; Ciara, Elzbieta; Distelmaier, Felix; Freisinger, Peter; Haeberle, Johannes; Hayflick, Susan J.; Hempel, Maja; Itkis, Yulia S.; Kishita, Yoshihito; Klopstock, Thomas; Krylova, Tatiana D.; Lamperti, Costanza; Lenz, Dominic; Makowski, Christine; Mosegaard, Signe; Mueller, Michaela F.; Munoz-Pujol, Gerard; Nadel, Agnieszka; Ohtake, Akira; Okazaki, Yasushi; Procopio, Elena; Schwarzmayr, Thomas; Smet, Joel; Staufner, Christian; Stenton, Sarah L.; Strom, Tim M.; Terrile, Caterina; Tort, Frederic; Coster, Rudy van; Vanlander, Arnaud; Wagner, Matias; Xu, Manting; Fang, Fang; Ghezzi, Daniele; Mayr, Johannes A.; Piekutowska-Abramczuk, Dorota; Ribes, Antonia; Roetig, Agnes; Taylor, Robert W.; Wortmann, Saskia B.; Murayama, Kei; Meitinger, Thomas; Gagneur, Julien und Prokisch, Holger
(2022):
Clinical implementation of RNA sequencing for Mendelian disease diagnostics.
In: Genome Medicine, Bd. 14, Nr. 1, 38
[PDF, 2MB]
Schweizer, Ulrich; Wirth, Eva K.; Klopstock, Thomas; Hoelter, Sabine M.; Becker, Lore; Moskovitz, Jackob; Grune, Tilman; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Koehrle, Josef und Schomburg, Lutz
(2022):
Seizures, ataxia and parvalbumin-expressing interneurons respond to selenium supply in Selenop-deficient mice.
In: Redox Biology, Bd. 57, 102490
[PDF, 9MB]
Traschuetz, Andreas; Reich, Selina; Adarmes, Astrid D.; Anheim, Mathieu; Ashrafi, Mahmoud Reza; Baets, Jonathan; Basak, A. Nazli; Bertini, Enrico; Brais, Bernard; Gagnon, Cynthia; Gburek-Augustat, Janina; Hanagasi, Hasmet A.; Heinzmann, Anna; Horvath, Rita; Jonghe, Peter de; Kamm, Christoph; Klivenyi, Peter; Klopstock, Thomas; Minnerop, Martina; Muenchau, Alexander; Renaud, Mathilde; Roxburgh, Richard H.; Santorelli, Filippo M.; Schirinzi, Tommaso; Sival, Deborah A.; Timmann, Dagmar; Vielhaber, Stefan; Wallner, Michael; Warrenburg, Bart P. van de; Zanni, Ginevra; Zuchner, Stephan; Klockgether, Thomas; Schuele, Rebecca; Schols, Ludger und Synofzik, Matthis
(25. Juni 2021):
The ARCA Registry: A Collaborative Global Platform for Advancing Trial Readiness in Autosomal Recessive Cerebellar Ataxias.
In: Frontiers in Neurology, Bd. 12, 677551
[PDF, 1MB]
Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Biousse, Valerie; Moster, Mark L.; Vignal-Clermont, Catherine; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Girmens, Jean-Francois; La Morgia, Chiara; DeBusk, Adam A.; Jurkute, Neringa; Priglinger, Claudia; Karanjia, Rustum; Josse, Constant; Salzmann, Julie; Montestruc, Francois; Roux, Michel; Taiel, Magali und Sahel, Jose-Alain
(24. Mai 2021):
Intravitreal Gene Therapy vs. Natural History in Patients With Leber Hereditary Optic Neuropathy Carrying the m.11778G>A ND4 Mutation: Systematic Review and Indirect Comparison.
In: Frontiers in Neurology, Bd. 12, 662838
[PDF, 592kB]
Iankova, Vassilena; Karin, Ivan; Klopstock, Thomas und Schneider, Susanne A.
(15. April 2021):
Emerging Disease-Modifying Therapies in Neurodegeneration With Brain Iron Accumulation (NBIA) Disorders.
In: Frontiers in Neurology, Bd. 12, 629414
[PDF, 400kB]
Karin, Ivan; Buechner, Boriana; Gauzy, Florence; Klucken, Angelika und Klopstock, Thomas
(22. Februar 2021):
Treat Iron-Related Childhood-Onset Neurodegeneration (TIRCON)—An International Network on Care and Research for Patients With Neurodegeneration With Brain Iron Accumulation (NBIA).
In: Frontiers in Neurology, Bd. 12, 642228
[PDF, 1MB]
Rabenstein, Andrea; Catarino, Claudia B.; Rampeltshammer, Verena; Schindler, David; Gallenmüller, Constanze; Priglinger, Claudia; Pogarell, Oliver; Rüther, Tobias und Klopstock, Thomas
(2021):
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
In: Orphanet journal of rare diseases, Bd. 16, Nr. 1, 127
[PDF, 1MB]
Feil, Katharina; Adrion, Christine; Boesch, Sylvia; Doss, Sarah; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schöls, Ludger; Steiner, Katharina Marie; Stendel, Claudia; Timmann, Dagmar; Naumann, Ivonne; Mansmann, Ulrich ORCID: https://orcid.org/0000-0002-9955-8906 und Strupp, Michael
(2021):
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
In: JAMA Network Open, Bd. 4, Nr. 12, e2135841
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-9955-8906 und Strupp, Michael
(2021):
Safety and Efficacy of Acetyl-DL-Leucine in Certain Types of Cerebellar Ataxia: The ALCAT Randomized Clinical Crossover Trial.
In: JAMA Network Open, Bd. 4, Nr. 12, e2135841
[PDF, 1MB]
Biagosch, Caroline A.; Vidali, Silvia; Faerberboeck, Michael; Hensler, Svenja-Viola; Becker, Lore; Amarie, Oana V.; Aguilar-Pimentel, Antonio; Garrett, Lillian; Klein-Rodewald, Tanja; Rathkolb, Birgit; Zanuttigh, Enrica; Calzada-Wack, Julia; Silva-Buttkus, Patricia da; Rozman, Jan; Treise, Irina; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Janik, Dirk; Wurst, Wolfgang; Mayr, Johannes A.; Klopstock, Thomas; Meitinger, Thomas; Prokisch, Holger und Iuso, Arcangela
(2021):
A comprehensive phenotypic characterization of a whole-body Wdr45 knock-out mouse.
In: Mammalian Genome, Bd. 32, Nr. 5: S. 332-349
[PDF, 3MB]
Jueschke, Christoph; Klopstock, Thomas; Catarino, Claudia B.; Owczarek-Lipska, Marta; Wissinger, Bernd und Neidhardt, John
(2021):
Autosomal dominant optic atrophy: A novel treatment for OPA1 splice defects using U1 snRNA adaption.
In: Molecular Therapy-Nucleic Acids, Bd. 26: S. 1186-1197
[PDF, 1MB]
Klionsky, Daniel J.; Abdel-Aziz, Amal Kamal; Abdelfatah, Sara; Abdellatif, Mahmoud; Abdoli, Asghar; Abel, Steffen; Abeliovich, Hagai; Abildgaard, Marie H.; Abudu, Yakubu Princely; Acevedo-Arozena, Abraham; Adamopoulos, Iannis E.; Adeli, Khosrow; Adolph, Timon E.; Adornetto, Annagrazia; Aflaki, Elma; Agam, Galila; Agarwal, Anupam; Aggarwal, Bharat B.; Agnello, Maria; Agostinis, Patrizia; Agrewala, Javed N.; Agrotis, Alexander; Aguilar, Patricia V.; Ahmad, S. Tariq; Ahmed, Zubair M.; Ahumada-Castro, Ulises; Aits, Sonja; Aizawa, Shu; Akkoc, Yunus; Akoumianaki, Tonia; Akpinar, Hafize Aysin; Al-Abd, Ahmed M.; Al-Akra, Lina; Al-Gharaibeh, Abeer; Alaoui-Jamali, Moulay A.; Alberti, Simon; Alcocer-Gomez, Elisabet; Alessandri, Cristiano; Ali, Muhammad; Al-Bari, M. 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Bast; Basu, Alakananda; Batoko, Henri; Batten, Isabella; Baulieu, Etienne E.; Baumgarner, Bradley L.; Bayry, Jagadeesh; Beale, Rupert; Beau, Isabelle; Beaumatin, Florian; Bechara, Luiz R. G.; Beck, George R.; Beers, Michael F.; Begun, Jakob; Behrends, Christian; Behrens, Georg M. N.; Bei, Roberto; Bejarano, Eloy; Bel, Shai; Behl, Christian; Belaid, Amine; Belgareh-Touze, Naima; Bellarosa, Cristina; Belleudi, Francesca; Bello Perez, Melissa; Bello-Morales, Raquel; de Oliveira Beltran, Jackeline Soares; Beltran, Sebastian; Benbrook, Doris Mangiaracina; Bendorius, Mykolas; Benitez, Bruno A.; Benito-Cuesta, Irene; Bensalem, Julien; Berchtold, Martin W.; Berezowska, Sabina; Bergamaschi, Daniele; Bergami, Matteo; Bergmann, Andreas; Berliocchi, Laura; Berlioz-Torrent, Clarisse; Bernard, Amelie; Berthoux, Lionel; Besirli, Cagri G.; Besteiro, Sebastien; Betin, Virginie M.; Beyaert, Rudi; Bezbradica, Jelena S.; Bhaskar, Kiran; Bhatia-Kissova, Ingrid; Bhattacharya, Resham; Bhattacharya, Sujoy; Bhattacharyya, Shalmoli; Bhuiyan, Md Shenuarin; Bhutia, Sujit Kumar; Bi, Lanrong; Bi, Xiaolin; Biden, Trevor J.; Bijian, Krikor; Billes, Viktor A.; Binart, Nadine; Bincoletto, Claudia; Birgisdottir, Asa B.; Bjorkoy, Geir; Blanco, Gonzalo; Blas-Garcia, Ana; Blasiak, Janusz; Blomgran, Robert; Blomgren, Klas; Blum, Janice S.; Boada-Romero, Emilio; Boban, Mirta; BoeszeBattaglia, Kathleen; Boeuf, Philippe; Boland, Barry; Bomont, Pascale; Bonaldo, Paolo; Bonam, Srinivasa Reddy; Bonfili, Laura; Bonifacino, Juan S.; Boone, Brian A.; Bootman, Martin D.; Bordi, Matteo; Borner, Christoph; Bornhauser, Beat C.; Borthakur, Gautam; Bosch, Jürgen; Bose, Santanu; Botana, Luis M.; Botas, Juan; Boulanger, Chantal M.; Boulton, Michael E.; Bourdenx, Mathieu; Bourgeois, Benjamin; Bourke, Nollaig M.; Bousquet, Guilhem; Boya, Patricia; Bozhkov, Peter V.; Bozi, Luiz H. M.; Bozkurt, Tolga O.; Brackney, Doug E.; Brandts, Christian H.; Braun, Ralf J.; Braus, Gerhard H.; Bravo-Sagua, Roberto; Bravo-San Pedro, Jose M.; Brest, Patrick; Bringer, Marie-Agnes; Briones-Herrera, Alfredo; Broaddus, V. Courtney; Brodersen, Peter; Alvarez, Elida M. C.; Brodsky, Jeffrey L.; Brody, Steven L.; Bronson, Paola G.; Bronstein, Jeff M.; Brown, Carolyn N.; Brown, Rhoderick E.; Brum, Patricia C.; Brumell, John H.; Brunetti-Pierri, Nicola; Bruno, Daniele; Bryson-Richardson, Robert J.; Bucci, Cecilia; Buchrieser, Carmen; Bueno, Marta; Buitrago-Molina, Laura Elisa; Buraschi, Simone; Buch, Shilpa; Buchan, J. Ross; Buckingham, Erin M.; Budak, Hikmet; Budini, Mauricio; Bultynck, Geert; Burada, Florin; Burgoyne, Joseph R.; Buron, M. Isabel; Bustos, Victor; Buttner, Sabrina; Butturini, Elena; Byrd, Aaron; Cabas, Isabel; Cabrera-Benitez, Sandra; Cadwell, Ken; Cai, Jingjing; Cai, Lu; Cai, Qian; Cairo, Montserrat; Calbet, Jose A.; Caldwell, Guy A.; Caldwell, Kim A.; Call, Jarrod A.; Calvani, Riccardo; Calvo, Ana C.; Barrera, Miguel Calvo-Rubio; Camara, Niels Os; Camonis, Jacques H.; Camougrand, Nadine; Campanella, Michelangelo; Campbell, Edward M.; Campbell-Valois, Francois-Xavier; Campello, Silvia; Campesi, Ilaria; Campos, Juliane C.; Camuzard, Olivier; Cancino, Jorge; de Almeida, Danilo Candido; Canesi, Laura; Caniggia, Isabella; Canonico, Barbara; Canti, Carles; Cao, Bin; Caraglia, Michele; Carames, Beatriz; Carchman, Evie H.; Cardenal-Munoz, Elena; Cardenas, Cesar; Cardenas, Luis; Cardoso, Sandra M.; Carew, Jennifer S.; Carle, Georges F.; Carleton, Gillian; Carloni, Silvia; Carmona-Gutierrez, Didac; Carneiro, Leticia A.; Carnevali, Oliana; Carosi, Julian M.; Carra, Serena; Carrier, Alice; Carrier, Lucie; Carroll, Bernadette; Carter, A. Brent; Carvalho, Andreia Neves; Casanova, Magali; Casas, Caty; Casas, Josefina; Cassioli, Chiara; Castillo, Eliseo F.; Castillo, Karen; Castillo-Lluva, Sonia; Castoldi, Francesca; Castori, Marco; Castro, Ariel F.; Castro-Caldas, Margarida; Castro-Hernandez, Javier; Castro-Obregon, Susana; Catz, Sergio D.; Cavadas, Claudia; Cavaliere, Federica; Cavallini, Gabriella; Cavinato, Maria; Cayuela, Maria L.; Rica, Paula Cebollada; Cecarini, Valentina; Cecconi, Francesco; Cechowska-Pasko, Marzanna; Cenci, Simone; Ceperuelo-Mallafre, Victoria; Cerqueira, Joao J.; Cerutti, Janete M.; Cervia, Davide; Cetintas, Vildan Bozok; Cetrullo, Silvia; Chae, Han-Jung; Chagin, Andrei S.; Chai, Chee-Yin; Chakrabarti, Gopal; Chakrabarti, Oishee; Chakraborty, Tapas; Chakraborty, Trinad; Chami, Mounia; Chamilos, Georgios; Chan, David W.; Chan, Edmond Y. W.; Chan, Edward D.; Chan, H. Y. Edwin; Chan, Helen H.; Chan, Hung; Chan, Matthew T. V.; Chan, Yau Sang; Chandra, Partha K.; Chang, Chih-Peng; Chang, Chunmei; Chang, Hao-Chun; Chang, Kai; Chao, Jie; Chapman, Tracey; Charlet-Berguerand, Nicolas; Chatterjee, Samrat; Chaube, Shail K.; Chaudhary, Anu; Chauhan, Santosh; Chaum, Edward; Checler, Frederic; Cheetham, Michael E.; Chen, ChangShi; Chen, Guang-Chao; Chen, Jian-Fu; Chen, Liam L.; Chen, Leilei; Chen, Lin; Chen, Mingliang; Chen, MuKuan; Chen, Ning; Chen, Quan; Chen, Ruey-Hwa; Chen, Shi; Chen, Wei; Chen, Weiqiang; Chen, XinMing; Chen, Xiong-Wen; Chen, Xu; Chen, Yan; Chen, Ye-Guang; Chen, Yingyu; Chen, Yongqiang; Chen, YuJen; Chen, Yue-Qin; Chen, Zhefan Stephen; Chen, Zhi; Chen, Zhi-Hua; Chen, Zhijian J.; Chen, Zhixiang; Cheng, Hanhua; Cheng, Jun; Cheng, Shi-Yuan; Cheng, Wei; Cheng, Xiaodong; Cheng, Xiu-Tang; Cheng, Yiyun; Cheng, Zhiyong; Chen, Zhong; Cheong, Heesun; Cheong, Jit Kong; Chernyak, Boris; Cherry, Sara; Cheung, Chi Fai Randy; Cheung, Chun Hei Antonio; Cheung, King-Ho; Chevet, Eric; Chi, Richard J.; Chiang, Alan Kwok Shing; Chiaradonna, Ferdinando; Chiarelli, Roberto; Chiariello, Mario; Chica, Nathalia; Chiocca, Susanna; Chiong, Mario; Chiou, Shih-Hwa; Chiramel, Abhilash; Chiurchiu, Valerio; Cho, Dong-Hyung; Choe, Seong-Kyu; Choi, Augustine M. K.; Choi, Mary E.; Choudhury, Kamalika Roy; Chow, Norman S.; Chu, Charleen T.; Chua, Jason P.; Chua, John Jia En; Chung, Hyewon; Chung, Kin Pan; Chung, Seockhoon; Chung, So-Hyang; Chung, Yuen-Li; Cianfanelli, Valentina; Ciechomska, Iwona A.; Cifuentes, Mariana; Cinque, Laura; Cirak, Sebahattin; Cirone, Mara; Clague, Michael J.; Clarke, Robert; Clementi, Emilio; Coccia, Eliana M.; Codogno, Patrice; Cohen, Ehud; Cohen, Mickael M.; Colasanti, Tania; Colasuonno, Fiorella; Colbert, Robert A.; Colell, Anna; Coll, Nuria S.; Collins, Mark O.; Colombo, Maria; Colon-Ramos, Daniel A.; Combaret, Lydie; Comincini, Sergio; Cominetti, Marcia R.; Consiglio, Antonella; Conte, Andrea; Conti, Fabrizio; Contu, Viorica Raluca; Cookson, Mark R.; Coombs, Kevin M.; Coppens, Isabelle; Corasaniti, Maria Tiziana; Corkery, Dale P.; Cordes, Nils; Cortese, Katia; Costa, Maria do Carmo; Costantino, Sarah; Costelli, Paola; Coto-Montes, Ana; Crack, Peter J.; Crespo, Jose L.; Criollo, Alfredo; Crippa, Valeria; Cristofani, Riccardo; Csizmadia, Tamas; Cuadrado, Antonio; Cui, Bing; Cui, Jun; Cui, Yixian; Cui, Yong; Culetto, Emmanuel; Cumino, Andrea C.; Cybulsky, Andrey; Czaja, Mark J.; Czuczwar, Stanislaw J.; D'Adamo, Stefania; D'Amelio, Marcello; D'Arcangelo, Daniela; D'Lugos, Andrew C.; D'Orazi, Gabriella; da Silva, James A.; Dafsari, Hormos Salimi; Dagda, Ruben K.; Dagdas, Yasin; Daglia, Maria; Dai, Xiaoxia; Dai, Yun; Dai, Yuyuan; Dal Col, Jessica; Dalhaimer, Paul; Dalla Valle, Luisa; Dallenga, Tobias; Dalmasso, Guillaume; Damme, Markus; Dando, Ilaria; Dantuma, Nico P.; Darling, April L.; Das, Hiranmoy; Dasarathy, Srinivasan; Dasari, Santosh K.; Dash, Srikanta; Daumke, Oliver; Dauphinee, Adrian N.; Davies, Jeffrey S.; Davila, Valeria A.; Davis, Roger J.; Davis, Tanja; Naidu, Sharadha Dayalan; De Amicis, Francesca; De Bosscher, Karolien; De Felice, Francesca; De Franceschi, Lucia; De Leonibus, Chiara; de Mattos Barbosa, Mayara G.; De Meyer, Guido R. Y.; De Milito, Angelo; De Nunzio, Cosimo; De Palma, Clara; De Santi, Mauro; De Virgilio, Claudio; De Zio, Daniela; Debnath, Jayanta; DeBosch, Brian J.; Decuypere, JeanPaul; Deehan, Mark A.; Deflorian, Gianluca; DeGregori, James; Dehay, Benjamin; Del Rio, Gabriel; Delaney, Joe R.; Delbridge, Lea M. D.; Delorme-Axford, Elizabeth; Delpino, M. Victoria; Demarchi, Francesca; Dembitz, Vilma; Demers, Nicholas D.; Deng, Hongbin; Deng, Zhiqiang; Dengjel, Joern; Dent, Paul; Denton, Donna; DePamphilis, Melvin L.; Der, Channing J.; Deretic, Vojo; Descoteaux, Albert; Devis, Laura; Devkota, Sushil; Devuyst, Olivier; Dewson, Grant; Dharmasivam, Mahendiran; Dhiman, Rohan; di Bernardo, Diego; Di Cristina, Manlio; Di Domenico, Fabio; Di Fazio, Pietro; Di Fonzo, Alessio; Di Guardo, Giovanni; Di Guglielmo, Gianni M.; Di Leo, Luca; Di Malta, Chiara; Di Nardo, Alessia; Di Rienzo, Martina; Di Sano, Federica; Diallinas, George; Diao, Jiajie; Diaz-Araya, Guillermo; Diaz-Laviada, Ines; Dickinson, Jared M.; Diederich, Marc; Dieude, Melanie; Dikic, Ivan; Ding, Shiping; Ding, Wen-Xing; Dini, Luciana; Dinic, Miroslav; Dinkova-Kostova, Albena T.; Dionne, Marc S.; Distler, Jorg H. W.; Diwan, Abhinav; Dixon, Ian M. C.; Djavaheri-Mergny, Mojgan; Dobrinski, Ina; Dobrovinskaya, Oxana; Dobrowolski, Radek; Dobson, Renwick C. J.; Emre, Serap Dokmeci; Donadelli, Massimo; Dong, Bo; Dong, Xiaonan; Dong, Zhiwu; Ii, Gerald W. Dorn; Dotsch, Volker; Dou, Huan; Dou, Juan; Dowaidar, Moataz; Dridi, Sami; Drucker, Liat; Du, Ailian; Du, Caigan; Du, Guangwei; Du, Hai-Ning; Du, Li-Lin; du Toit, Andre; Duan, Shao-Bin; Duan, Xiaoqiong; Duarte, Sonia P.; Dubrovska, Anna; Dunlop, Elaine A.; Dupont, Nicolas; Duran, Raul; Dwarakanath, Bilikere S.; Dyshlovoy, Sergey A.; Ebrahimi-Fakhari, Darius; Eckhart, Leopold; Edelstein, Charles L.; Efferth, Thomas; Eftekharpour, Eftekhar; Eichinger, Ludwig; Eid, Nabil; Eisenberg, Tobias; Eissa, N. Tony; Eissa, Sanaa; Ejarque, Miriam; El Andaloussi, Abdeljabar; El-Hage, Nazira; El-Naggar, Shahenda; Eleuteri, Anna Maria; El-Shafey, Eman S.; Elgendy, Mohamed; Eliopoulos, Aristides G.; Elizalde, Maria M.; Elks, Philip M.; Elsasser, Hans-Peter; Elsherbiny, Eslam S.; Emerling, Brooke M.; Emre, N. C. Tolga; Eng, Christina H.; Engedal, Nikolai; Engelbrecht, Anna-Mart; Engelsen, Agnete S. T.; Enserink, Jorrit M.; Escalante, Ricardo; Esclatine, Audrey; Escobar-Henriques, Mafalda; Eskelinen, Eeva-Liisa; Espert, Lucile; Eusebio, Makandjou-Ola; Fabrias, Gemma; Fabrizi, Cinzia; Facchiano, Antonio; Facchiano, Francesco; Fadeel, Bengt; Fader, Claudio; Faesen, Alex C.; Fairlie, W. Douglas; Falco, Alberto; Falkenburger, Bjorn H.; Fan, Daping; Fan, Jie; Fan, Yanbo; Fang, Evandro F.; Fang, Yanshan; Fang, Yognqi; Fanto, Manolis; Farfel-Becker, Tamar; Faure, Mathias; Fazeli, Gholamreza; Fedele, Anthony O.; Feldman, Arthur M.; Feng, Du; Feng, Jiachun; Feng, Lifeng; Feng, Yibin; Feng, Yuchen; Feng, Wei; Araujo, Thais Fenz; Ferguson, Thomas A.; Fernandez-Checa, Jose C.; FernandezVeledo, Sonia; Fernie, Alisdair R.; Ferrante, Anthony W.; Ferraresi, Alessandra; Ferrari, Merari F.; Ferreira, Julio C. B.; Ferro-Novick, Susan; Figueras, Antonio; Filadi, Riccardo; Filigheddu, Nicoletta; FilippiChiela, Eduardo; Filomeni, Giuseppe; Fimia, Gian Maria; Fineschi, Vittorio; Finetti, Francesca; Finkbeiner, Steven; Fisher, Edward A.; Fisher, Paul B.; Flamigni, Flavio; Fliesler, Steven J.; Flo, Trude H.; Florance, Ida; Florey, Oliver; Florio, Tullio; Fodor, Erika; Follo, Carlo; Fon, Edward A.; Forlino, Antonella; Fornai, Francesco; Fortini, Paola; Fracassi, Anna; Fraldi, Alessandro; Franco, Brunella; Franco, Rodrigo; Franconi, Flavia; Frankel, Lisa B.; Friedman, Scott L.; Frohlich, Leopold F.; Fruhbeck, Gema; Fuentes, Jose M.; Fujiki, Yukio; Fujita, Naonobu; Fujiwara, Yuuki; Fukuda, Mitsunori; Fulda, Simone; Furic, Luc; Furuya, Norihiko; Fusco, Carmela; Gack, Michaela U.; Gaffke, Lidia; Galadari, Sehamuddin; Galasso, Alessia; Galindo, Maria F.; Kankanamalage, Sachith Gallolu; Galluzzi, Lorenzo; Galy, Vincent; Gammoh, Noor; Gan, Boyi; Ganley, Ian G.; Gao, Feng; Gao, Hui; Gao, Minghui; Gao, Ping; Gao, Shou-Jiang; Gao, Wentao; Gao, Xiaobo; Garcera, Ana; Garcia, Maria Noe; Garcia, Veronica E.; Garcia-Del Portillo, Francisco; Garcia-Escudero, Vega; GarciaGarcia, Aracely; Garcia-Macia, Marina; Garcia-Moreno, Diana; Garcia-Ruiz, Carmen; Garcia-Sanz, Patricia; Garg, Abhishek D.; Gargini, Ricardo; Garofalo, Tina; Garry, Robert F.; Gassen, Nils C.; Gatica, Damian; Ge, Liang; Ge, Wanzhong; Geiss-Friedlander, Ruth; Gelfi, Cecilia; Genschik, Pascal; Gentle, Ian E.; Gerbino, Valeria; Gerhardt, Christoph; Germain, Kyla; Germain, Marc; Gewirtz, David A.; Afshar, Elham Ghasemipour; Ghavami, Saeid; Ghigo, Alessandra; Ghosh, Manosij; Giamas, Georgios; Giampietri, Claudia; Giatromanolaki, Alexandra; Gibson, Gary E.; Gibson, Spencer B.; Ginet, Vanessa; Giniger, Edward; Giorgi, Carlotta; Girao, Henrique; Girardin, Stephen E.; Giridharan, Mridhula; Giuliano, Sandy; Giulivi, Cecilia; Giuriato, Sylvie; Giustiniani, Julien; Gluschko, Alexander; Goder, Veit; Goginashvili, Alexander; Golab, Jakub; Goldstone, David C.; Golebiewska, Anna; Gomes, Luciana R.; Gomez, Rodrigo; Gomez-Sanchez, Ruben; Gomez-Puerto, Maria Catalina; Gomez-Sintes, Raquel; Gong, Qingqiu; Goni, Felix M.; Gonzalez-Gallego, Javier; Gonzalez-Hernandez, Tomas; Gonzalez-Polo, Rosa A.; Gonzalez-Reyes, Jose A.; Gonzalez-Rodriguez, Patricia; Goping, Ing Swie; Gorbatyuk, Marina S.; Gorbunov, Nikolai; Gorojod, Roxana M.; Gorski, Sharon M.; Goruppi, Sandro; Gotor, Cecilia; Gottlieb, Roberta A.; Gozes, Illana; Gozuacik, Devrim; Graef, Martin; Graler, Markus H.; Granatiero, Veronica; Grasso, Daniel; Gray, Joshua P.; Green, Douglas R.; Greenhough, Alexander; Gregory, Stephen L.; Griffin, Edward F.; Grinstaff, Mark W.; Gros, Frederic; Grose, Charles; Gross, Angelina S.; Gruber, Florian; Grumati, Paolo; Grune, Tilman; Gu, Xueyan; Guan, Jun-Lin; Guardia, Carlos M.; Guda, Kishore; Guerra, Flora; Guerri, Consuelo; Guha, Prasun; Guillen, Carlos; Gujar, Shashi; Gukovskaya, Anna; Gukovsky, Ilya; Gunst, Jan; Gunther, Andreas; Guntur, Anyonya R.; Guo, Chuanyong; Guo, Chun; Guo, Hongqing; Guo, Lian-Wang; Guo, Ming; Gupta, Pawan; Fernandez, Alvaro F.; Gupta, Shashi Kumar; Gupta, Swapnil; Gupta, Veer Bala; Gupta, Vivek; Gustafsson, Asa B.; Gutterman, David D.; Ranjitha, H. B.; Haapasalo, Annakaisa; Haber, James E.; Hadano, Shinji; Hafren, Anders J.; Haidar, Mansour; Hall, Belinda S.; Hallden, Gunnel; Hamacher-Brady, Anne; Hamann, Andrea; Hamasaki, Maho; Han, Weidong; Hansen, Malene; Hanson, Phyllis; Hao, Zijian; Harada, Masaru; Harhaji-Trajkovic, Ljubica; Hariharan, Nirmala; Haroon, Nigil; Harris, James; Hasegawa, Takafumi; Nagoor, Noor Hasima; Haspel, Jeffrey A.; Haucke, Volker; Hawkins, Wayne D.; Hay, Bruce A.; Haynes, Cole M.; Hayrabedyan, Soren B.; Hays, Thomas S.; He, Congcong; He, Qin; He, RongRong; He, You-Wen; He, Yu-Ying; Heakal, Yasser; Heberle, Alexander M.; Hejtmancik, J. Fielding; Helgason, Gudmundur Vignir; Henkel, Vanessa; Herb, Marc; Hergovich, Alexander; Herman-Antosiewicz, Anna; Hernandez, Agustin; Hernandez, Carlos; Hernandez-Diaz, Sergio; Hernandez-Gea, Virginia; Herpin, Amaury; Herreros, Judit; Hervas, Javier H.; Hesselson, Daniel; Hetz, Claudio; Heussler, Volker T.; Higuchi, Yujiro; Hilfiker, Sabine; Hill, Joseph A.; Hlavacek, William S.; Ho, Emmanuel A.; Ho, Idy H. T.; Ho, Philip Wing-Lok; Ho, ShuLeong; Ho, Wan Yun; Hobbs, G. Aaron; Hochstrasser, Mark; Hoet, Peter H. M.; Hofius, Daniel; Hofman, Paul; Hohn, Annika; Holmberg, Carina; Hombrebueno, Jose R.; Hong, Chang-Won; Hong, Yi-Ren; Hooper, Lora; Hoppe, Thorsten; Horos, Rastislav; Hoshida, Yujin; Hsin, I-Lun; Hsu, Hsin-Yun; Hu, Bing; Hu, Dong; Hu, Li-Fang; Hu, Ming Chang; Hu, Ronggui; Hu, Wei; Hu, Yu-Chen; Hu, Zhuo-Wei; Hua, Fang; Hua, Jinlian; Hua, Yingqi; Huan, Chongmin; Huang, Canhua; Huang, Chuanshu; Huang, Chuanxin; Huang, Chunling; Huang, Haishan; Huang, Kun; Huang, Michael L. H.; Huang, Rui; Huang, Shan; Huang, Tianzhi; Huang, Xing; Huang, Yuxiang Jack; Huber, Tobias B.; Hubert, Virginie; Hubner, Christian A.; Hughes, Stephanie M.; Hughes, William E.; Humbert, Magali; Hummer, Gerhard; Hurley, James H.; Hussain, Sabah; Hussain, Salik; Hussey, Patrick J.; Hutabarat, Martina; Hwang, Hui-Yun; Hwang, Seungmin; Ieni, Antonio; Ikeda, Fumiyo; Imagawa, Yusuke; Imai, Yuzuru; Imbriano, Carol; Imoto, Masaya; Inman, Denise M.; Inoki, Ken; Iovanna, Juan; Iozzo, Renato; Ippolito, Giuseppe; Irazoqui, Javier E.; Iribarren, Pablo; Ishaq, Mohd; Ishikawa, Makoto; Ishimwe, Nestor; Isidoro, Ciro; Ismail, Nahed; Issazadeh-Navikas, Shohreh; Itakura, Eisuke; Ito, Daisuke; Ivankovic, Davor; Ivanova, Saska; Iyer, Anand Krishnan V.; Izquierdo, Jose M.; Izumi, Masanori; Jaattela, Marja; Jabir, Majid Sakhi; Jackson, William T.; Jacobo-Herrera, Nadia; Jacomin, Anne-Claire; Jacquin, Elise; Jadiya, Pooja; Jäschke, Hartmut; Jagannath, Chinnaswamy; Jakobi, Arjen J.; Jakobsson, Johan; Janji, Bassam; JansenDurr, Pidder; Jansson, Patric J.; Jantsch, Jonathan; Januszewski, Slawomir; Jassey, Alagie; Jean, Steve; JeltschDavid, Helene; Jendelova, Pavla; Jenny, Andreas; Jensen, Thomas E.; Jessen, Niels; Jewell, Jenna L.; Ji, Jing; Jia, Lijun; Jia, Rui; Jiang, Liwen; Jiang, Qing; Jiang, Richeng; Jiang, Teng; Jiang, Xuejun; Jiang, Yu; Jimenez-Sanchez, Maria; Jin, Eun-Jung; Jin, Fengyan; Jin, Hongchuan; Jin, Li; Jin, Luqi; Jin, Meiyan; Jin, Si; Jo, Eun-Kyeong; Joffre, Carine; Johansen, Terje; Johnson, Gail V. W.; Johnston, Simon A.; Jokitalo, Eija; Jolly, Mohit Kumar; Joosten, Leo A. B.; Jordan, Joaquin; Joseph, Bertrand; Ju, Dianwen; Ju, Jeong-Sun; Ju, Jingfang; Juarez, Esmeralda; Judith, Delphine; Juhasz, Gabor; Jun, Youngsoo; Jung, Chang Hwa; Jung, SungChul; Jung, Yong Keun; Jungbluth, Heinz; Jungverdorben, Johannes; Just, Steffen; Kaarniranta, Kai; Kaasik, Allen; Kabuta, Tomohiro; Kaganovich, Daniel; Kahana, Alon; Kain, Renate; Kajimura, Shinjo; Kalamvoki, Maria; Kalia, Manjula; Kalinowski, Danuta S.; Kaludercic, Nina; Kalvari, Ioanna; Kaminska, Joanna; Kaminskyy, Vitaliy O.; Kanamori, Hiromitsu; Kanasaki, Keizo; Kang, Chanhee; Kang, Rui; Kang, Sang Sun; Kaniyappan, Senthilvelrajan; Kanki, Tomotake; Kanneganti, Thirumala-Devi; Kanthasamy, Anumantha G.; Kanthasamy, Arthi; Kantorow, Marc; Kapuy, Orsolya; Karamouzis, Michalis; Karim, Md Razaul; Karmakar, Parimal; Katare, Rajesh G.; Kato, Masaru; Kaufmann, Stefan H. E.; Kauppinen, Anu; Kaushal, Gur P.; Kaushik, Susmita; Kawasaki, Kiyoshi; Kazan, Kemal; Ke, Po-Yuan; Keating, Damien J.; Keber, Ursula; Kehrl, John H.; Keller, Kate E.; Keller, Christian W.; Kemper, Jongsook Kim; Kenific, Candia M.; Kepp, Oliver; Kermorgant, Stephanie; Kern, Andreas; Ketteler, Robin; Keulers, Tom G.; Khalfin, Boris; Khalil, Hany; Khambu, Bilon; Khan, Shahid Y.; Khandelwal, Vinoth Kumar Megraj; Khandia, Rekha; Kho, Widuri; Khobrekar, Noopur; Khuansuwan, Sataree; Khundadze, Mukhran; Killackey, Samuel A.; Kim, Dasol; Kim, Deok Ryong; Kim, Do-Hyung; Kim, Dong-Eun; Kim, Eun Young; Kim, Eun-Kyoung; Kim, HakRim; Kim, Hee-Sik; Kim, Hyung-Ryong; Kim, Jeong Hun; Kim, Jin Kyung; Kim, Jin-Hoi; Kim, Joungmok; Kim, Ju Hwan; Kim, Keun Il; Kim, Peter K.; Kim, Seong-Jun; Kimball, Scot R.; Kimchi, Adi; Kimmelman, Alec C.; Kimura, Tomonori; King, Matthew A.; Kinghorn, Kerri J.; Kinsey, Conan G.; Kirkin, Vladimir; Kirshenbaum, Lorrie A.; Kiselev, Sergey L.; Kishi, Shuji; Kitamoto, Katsuhiko; Kitaoka, Yasushi; Kitazato, Kaio; Kitsis, Richard N.; Kittler, Josef T.; Kjaerulff, Ole; Klein, Peter S.; Klopstock, Thomas; Klucken, Jochen; Knovelsrud, Helene; Knorr, Roland L.; Ko, Ben C. 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(2021):
Guidelines for the use and interpretation of assays for monitoring autophagy (4th edition).
In: Autophagy, Bd. 17, Nr. 1: S. 1-382
Klopstock, Thomas; Priglinger, Claudia; Yilmaz, Ali; Kornblum, Cornelia; Distelmaier, Felix und Prokisch, Holger
(2021):
Mitochondrial Disorders.
In: Deutsches Ärzteblatt International, Bd. 118, Nr. 44: S. 741-748
Moster, Mark L.; Sergott, Robert C.; Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Bryan, Molly Scannell; Smits, Gerard; Biousse, Valerie; Vignal-Clermont, Catherine; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Sadun, Alfredo A.; DeBusk, Adam A.; Carbonelli, Michele; Hage, Rabih; Priglinger, Siegfried ORCID: https://orcid.org/0000-0002-5580-612X; Karanjia, Rustum; Blouin, Laure; Taiel, Magali; Katz, Barrett und Sahel, Jose Alain
(2021):
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies.
In: Journal of Neuro-Ophthalmology, Bd. 41, Nr. 3: S. 298-308
[PDF, 363kB]
ORCID: https://orcid.org/0000-0003-2805-4652; Sadun, Alfredo A.; DeBusk, Adam A.; Carbonelli, Michele; Hage, Rabih; Priglinger, Siegfried ORCID: https://orcid.org/0000-0002-5580-612X; Karanjia, Rustum; Blouin, Laure; Taiel, Magali; Katz, Barrett und Sahel, Jose Alain
(2021):
Cross-Sectional Analysis of Baseline Visual Parameters in Subjects Recruited Into the RESCUE and REVERSE ND4-LHON Gene Therapy Studies.
In: Journal of Neuro-Ophthalmology, Bd. 41, Nr. 3: S. 298-308
[PDF, 363kB]
Reinert, Marie-Christine; Pacheu-Grau, David; Catarino, Claudia B.; Klopstock, Thomas; Ohlenbusch, Andreas; Schittkowski, Michael; Wilichowski, Ekkehard; Rehling, Peter und Brockmann, Knut
(2021):
Sulthiame impairs mitochondrial function in vitro and may trigger onset of visual loss in Leber hereditary optic neuropathy.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 64
[PDF, 1MB]
Schischlevskij, Pavel; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Stendel, Claudia; Muschen, Lars H.; Osmanovic, Alma; Binz, Camilla; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
Informal Caregiving in Amyotrophic Lateral Sclerosis (ALS): A High Caregiver Burden and Drastic Consequences on Caregivers' Lives.
In: Brain Sciences, Bd. 11, Nr. 6, 748
[PDF, 2MB]
Stenton, Sarah L.; Sheremet, Natalia L.; Catarino, Claudia B.; Andreeva, Natalia A.; Assouline, Zahra; Barboni, Piero; Barel, Ortal; Berutti, Riccardo; Bychkov, Igor; Caporali, Leonardo; Capristo, Mariantonietta; Carbonelli, Michele; Cascavilla, Maria L.; Issa, Peter Charbel; Freisinger, Peter; Gerber, Sylvie; Ghezzi, Daniele; Graf, Elisabeth; Heidler, Juliana; Hempel, Maja; Heon, Elise; Itkis, Yulya S.; Javasky, Elisheva; Kaplan, Josseline; Kopajtich, Robert; Kornblum, Cornelia; Kovacs-Nagy, Reka; Krylova, Tatiana D.; Kunz, Wolfram S.; La Morgia, Chiara; Lamperti, Costanza; Ludwig, Christina; Malacarne, Pedro F.; Maresca, Alessandra; Mayr, Johannes A.; Meisterknecht, Jana; Nevinitsyna, Tatiana A.; Palombo, Flavia; Pode-Shakked, Ben; Shmelkova, Maria S.; Strom, Tim M.; Tagliavini, Francesca; Tzadok, Michal; Ven, Amelie T. van der; Vignal-Clermont, Catherine; Wagner, Matias; Zakharova, Ekaterina Y.; Zhorzholadze, Nino V.; Rozet, Jean-Michel; Carelli, Valerio; Tsygankova, Polina G.; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
ORCID: https://orcid.org/0000-0003-2805-4652; Wittig, Ilka und Prokisch, Holger
(2021):
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy.
In: Journal of Clinical Investigation, Bd. 131, Nr. 6, e138267
[PDF, 6MB]
Rabenstein, Andrea; Catarino, Claudia B.; Rampeltshammer, Verena; Schindler, David; Gallenmüller, Constanze; Priglinger, Claudia; Pogarell, Oliver; Rüther, Tobias und Klopstock, Thomas
(2021):
Smoking and alcohol, health-related quality of life and psychiatric comorbidities in Leber's Hereditary Optic Neuropathy mutation carriers: a prospective cohort study.
In: Orphanet Journal of Rare Diseases, Bd. 16, Nr. 1, 127
[PDF, 1MB]
Peseschkian, Tara; Cordts, Isabell; Guenther, Rene; Stolte, Benjamin; Zeller, Daniel; Schroeter, Carsten; Weyen, Ute; Regensburger, Martin; Wolf, Joachim; Schneider, Ilka; Hermann, Andreas; Metelmann, Moritz; Kohl, Zacharias; Linker, Ralf A.; Koch, Jan Christoph; Buechner, Boriana; Weiland, Ulrike; Schoenfelder, Erik; Heinrich, Felix; Osmanovic, Alma; Klopstock, Thomas; Dorst, Johannes; Ludolph, Albert C.; Boentert, Matthias; Hagenacker, Tim; Deschauer, Marcus; Lingor, Paul; Petri, Susanne und Schreiber-Katz, Olivia
(2021):
A Nation-Wide, Multi-Center Study on the Quality of Life of ALS Patients in Germany.
In: Brain Sciences, Bd. 11, Nr. 3, 372
[PDF, 1MB]
Thakur, Nivedita; Klopstock, Thomas; Jackowski, Suzanne; Kuscer, Enej; Tricta, Fernando; Videnovic, Aleksandar und Jinnah, Hyder A.
(2021):
Rational Design of Novel Therapies for Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 9: S. 2005-2016
Ng, Yi Shiau; Bindoff, Laurence A.; Gorman, Grainne S.; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; McFarland, Robert; Sue, Carolyn M.; Suomalainen, Anu; Taylor, Robert W.; Thorburn, David R. und Turnbull, Doug M.
(2021):
Mitochondrial disease in adults: recent advances and future promise.
In: Lancet Neurology, Bd. 20, Nr. 7: S. 573-584
Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Parkinson, Michael H.; Mariotti, Caterina; Nanetti, Lorenzo; Durr, Alexandra; Ewenczyk, Claire; Boesch, Sylvia; Nachbauer, Wolfgang; Klopstock, Thomas; Stendel, Claudia; de Rivera Garrido, Francisco Javier Rodriguez; Rummey, Christian; Schoels, Ludger; Hayer, Stefanie N.; Klockgether, Thomas; Giordano, Ilaria; Didszun, Claire; Rai, Myriam; Pandolfo, Massimo und Schulz, Jorg B.
(2021):
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 4-year cohort study.
In: Lancet Neurology, Bd. 20, Nr. 5: S. 362-372
Ng, Yi Shiau; Bindoff, Laurence A.; Gorman, Grainne S.; Klopstock, Thomas; Kornblum, Cornelia; Mancuso, Michelangelo; McFarland, Robert; Sue, Carolyn M.; Suomalainen, Anu; Taylor, Robert W.; Thorburn, David R. und Turnbull, Doug M.
(2021):
Mitochondrial disease in adults: recent advances and future promise.
In: Lancet Neurology, Bd. 20, Nr. 7: S. 573-584
Biousse, Valerie; Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Moster, Mark L.; Vignal-Clermont, Catherine; Klopstock, Thomas; Sadun, Alfredo A.; Sergott, Robert C.; Hage, Rabih; Esposti, Simona; La Morgia, Chiara; Priglinger, Claudia; Karanja, Rustum; Blouin, Laure; Taiel, Magali und Sahel, Jose-Alain
(2021):
Long-Term Follow-Up After Unilateral Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy: The RESTORE Study.
In: Journal of Neuro-Ophthalmology, Bd. 41, Nr. 3: S. 309-315
[PDF, 235kB]
Newman, Nancy J.; Yu-Wai-Man, Patrick; Carelli, Valerio; Moster, Mark L.; Biousse, Valerie; Vignal-Clermont, Catherine; Sergott, Robert C.; Klopstock, Thomas; Sadun, Alfredo A.; Barboni, Piero; DeBusk, Adam A.; Girmens, Jean Francois; Rudolph, Guenther; Karanjia, Rustum; Taiel, Magali; Blouin, Laure; Smits, Gerard; Katz, Barrett und Sahel, Jose-Alain
(2021):
Efficacy and Safety of Intravitreal Gene Therapy for Leber Hereditary Optic Neuropathy Treated within 6 Months of Disease Onset.
In: Ophthalmology, Bd. 128, Nr. 5: S. 649-660
[PDF, 894kB]
Elstner, Matthias; Olszewski, Konrad; Prokisch, Holger; Klopstock, Thomas und Murgia, Marta
(2021):
Multi-Omics Approach to Mitochondrial DNA Damage in Human Muscle Fibers.
In: International Journal of Molecular Sciences, Bd. 22, Nr. 20, 11080
[PDF, 10MB]
Dusek, Petr; Mekle, Ralf; Skowronska, Marta; Acosta‐Cabronero, Julio; Huelnhagen, Till; Robinson, Simon Daniel; Schubert, Florian; Deschauer, Marcus; Els, Antje; Ittermann, Bernd; Schottmann, Gudrun; Madai, Vince I.; Paul, Friedemann; Klopstock, Thomas; Kmiec, Tomasz; Niendorf, Thoralf; Wuerfel, Jens und Schneider, Susanne A.
(2020):
Brain Iron and Metabolic Abnormalities in C19orf12 Mutation Carriers: A 7.0 Tesla MRI Study in Mitochondrial Membrane Protein–Associated Neurodegeneration.
In: Movement Disorders, Bd. 35, Nr. 1: S. 142-150
[PDF, 903kB]
Bux, Esther Marie; Solis-Mezarino, Victor; Kuhm, Christoph; Northoff, Bernd H.; Karin, Ivan; Klopstock, Thomas; Holdt, Lesca M.; Voelker-Albert, Moritz; Imhof, Axel und Peleg, Shahaf
(2020):
Determining histone H4 acetylation patterns in human peripheral blood mononuclear cells using mass spectrometry.
In: Clinical Mass Spectrometry, Bd. 15: S. 54-60
Werning, Maike; Muellner, Ernst W.; Mlynek, Georg; Dobretzberger, Verena; Djinovic-Carugo, Kristina; Baron, David M.; Prokisch, Holger; Buechner, Boriana; Klopstock, Thomas und Salzer, Ulrich
(2020):
PKAN neurodegeneration and residual PANK2 activities in patient erythrocytes.
In: Annals of Clinical and Translational Neurology, Bd. 7, Nr. 8: S. 1340-1351
[PDF, 2MB]
Traschuetz, Andreas; Schirinzi, Tommaso; Laugwitz, Lucia; Murray, Nathan H.; Bingman, Craig A.; Reich, Selina; Kern, Jan; Heinzmann, Anna; Vasco, Gessica; Bertini, Enrico; Zanni, Ginevra; Durr, Alexandra; Magri, Stefania; Taroni, Franco; Malandrini, Alessandro; Baets, Jonathan; de Jonghe, Peter; de Ridder, Willem; Bereau, Matthieu; Demuth, Stephanie; Ganos, Christos; Basak, A. Nazli; Hanagasi, Hasmet; Kurul, Semra Hiz; Bender, Benjamin; Schoels, Ludger; Grasshoff, Ute; Klopstock, Thomas; Horvath, Rita; Warrenburg, Bart van de; Burglen, Lydie; Rougeot, Christelle; Ewenczyk, Claire; König, Michel; Santorelli, Filippo M.; Anheim, Mathieu; Munhoz, Renato P.; Haack, Tobias; Distelmaier, Felix; Pagliarini, David J.; Puccio, Helene und Synofzik, Matthis
(2020):
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients.
In: Annals of Neurology, Bd. 88, Nr. 2: S. 251-263
[PDF, 7MB]
Ascari, Giulia; Peelman, Frank; Farinelli, Pietro; Rosseel, Toon; Lambrechts, Nina; Wunderlich, Kirsten A.; Wagner, Matias; Nikopoulos, Konstantinos; Martens, Pernille; Balikova, Irina; Derycke, Lara; Holtappels, Gabriele; Krysko, Olga; Laethem, Thalia van; De Jaegere, Sarah; Guillemyn, Brecht; De Rycke, Riet; De Bleecker, Jan; Creytens, David; Dorpe, Jo van; Gerris, Jan; Bachert, Claus; Neuhofer, Christiane; Walraedt, Sophie; Bischoff, Almut; Pedersen, Lotte B.; Klopstock, Thomas; Rivolta, Carlo; Leroy, Bart P.; De Baere, Elfride und Coppieters, Frauke
(2020):
Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility.
In: Human Mutation, Bd. 41, Nr. 5: S. 998-1011
[PDF, 5MB]
Milev, Miroslav P.; Saint-Dic, Djenann; Zardoui, Khashayar; Klopstock, Thomas; Law, Christopher; Distelmaier, Felix und Sacher, Michael
(2020):
The phenotype associated with variants inTANGO2may be explained by a dual role of the protein inER-to-Golgitransport and at the mitochondria.
In: Journal of Inherited Metabolic Disease, Bd. 44, Nr. 2: S. 426-437
Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]
ORCID: https://orcid.org/0000-0003-2805-4652; Videnovic, Aleksandar; Bischoff, Almut Turid; Bonnet, Cecilia; Cif, Laura; Comella, Cynthia; Correa-Vela, Marta; Escolar, Maria L.; Fraser, Jamie L.; Gonzalez, Victoria; Hermanowicz, Neal; Jech, Robert; Jinnah, Hyder A.; Kmiec, Tomasz; Lang, Anthony; Marti, Maria J.; Mercimek-Andrews, Saadet; Monduy, Migvis; Nimmo, Graeme A. M.; Perez-Duenas, Belen; Pfeiffer, Helle Cecilie Viekilde; Planellas, Lluis; Roze, Emmanuel; Thakur, Nivedita; Tochen, Laura; Vanegas-Arroyave, Nora; Zorzi, Giovanna; Burns, Colleen und Greblikas, Feriandas
(2020):
Fosmetpantotenate Randomized Controlled Trial in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders, Bd. 36, Nr. 6: S. 1342-1352
[PDF, 305kB]
Kollmus, Heike; Fuchs, Helmut; Lengger, Christoph; Haselimashhadi, Hamed; Bogue, Molly A.; Ostereicher, Manuela A.; Horsch, Marion; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Amarie, Oana Veronica; Becker, Lore; Beckers, Johannes; Calzada-Wack, Julia; Garrett, Lillian; Hans, Wolfgang; Hoelter, Sabine M.; Klein-Rodewald, Tanja; Maier, Holger; Mayer-Kuckuk, Philipp; Miller, Gregor; Moreth, Kristin; Neff, Frauke; Rathkolb, Birgit; Racz, Ildiko; Rozman, Jan; Spielmann, Nadine; Treise, Irina; Busch, Dirk; Graw, Jochen; Klopstock, Thomas; Wolf, Eckhard; Wurst, Wolfgang; Yildirim, Ali Onder; Mason, Jeremy; Torres, Arturo; Balling, Rudi; Mehaan, Terry; Gailus-Durner, Valerie; Schughart, Klaus und de Angelis, Martin Hrabe
(2020):
A comprehensive and comparative phenotypic analysis of the collaborative founder strains identifies new and known phenotypes.
In: Mammalian Genome, Bd. 31: S. 30-48
[PDF, 3MB]
Hayer, Stefanie Nicole; Liepelt, Inga; Barro, Christian; Wilke, Carlo; Kuhle, Jens; Martus, Peter; Schoels, Ludger; Schulz, Jörg Bernhard; Reetz, Kathrin; Fedosov, Kathrin; Didszun, Claire; Klockgether, Thomas; Giordano, Ilaria; Pandolfo, Massimo; Depondt, Chantal; Rai, Myriam; Boesch, Sylvia; Nachbauer, Wolfgang; Eigentler, Andreas; Indelicato, Elisabetta; Giunti, Paola; Parkinson, Michael; Manso, Katarina; Thomas-Black, Gilbert; Garcia-Moreno, Hector; Solanky, Nita; Abeti, Rosella; Polke, James; Labrum, Robin; Garrido, Rodriguez de Rivera Francisco Javier; Mascias, Javier; Velasco, Sanchez Sara; Garcia, Secades Sergio; Mariotti, Caterina; Nanetti, Lorenzo; Castaldo, Anna; Mongelli, Alessia; Fichera, Mario; Klopstock, Thomas; Karin, Ivan; Stendel, Claudia; Radelfahr, Florentine; Durr, Alexandra; Biet, Marie; Charles, Perrine; Ewenczyk, Claire; Just, Jennifer; Koutsis, Georgios; Walsh, Richard und Bertini, Enrico
(2020):
NfL and pNfH are increased in Friedreich's ataxia.
In: Journal of Neurology, Bd. 267, Nr. 5: S. 1420-1430
Husain, Ralf A.; Grimmel, Mona; Wagner, Matias; Hennings, J. Christopher; Marx, Christian; Feichtinger, Rene G.; Saadi, Abdelkrim; Rostasy, Kevin; Radelfahr, Florentine; Bevot, Andrea; Doebler-Neumann, Marion; Hartmann, Hans; Colleaux, Laurence; Cordts, Isabell; Kobeleva, Xenia; Darvish, Hossein; Bakhtiari, Somayeh; Kruer, Michael C.; Besse, Arnaud; Ng, Andy Cheuk-Him; Chiang, Diana; Bolduc, Francois; Tafakhori, Abbas; Mane, Shrikant; Firouzabadi, Saghar Ghasemi; Huebner, Antje K.; Buchert, Rebecca; Beck-Woedl, Stefanie; Müller, Amelie J.; Laugwitz, Lucia; Naegele, Thomas; Wang, Zhao-Qi; Strom, Tim M.; Sturm, Marc; Meitinger, Thomas; Klockgether, Thomas; Riess, Olaf; Klopstock, Thomas; Brandl, Ulrich; Huebner, Christian A.; Deschauer, Marcus; Mayr, Johannes A.; Bonnen, Penelope E.; Kraegeloh-Mann, Ingeborg; Wortmann, Saskia B. und Haack, Tobias B.
(2020):
Bi-allelic HPDL Variants Cause a Neurodegenerative Disease Ranging from Neonatal Encephalopathy to Adolescent-Onset Spastic Paraplegia.
In: American Journal of Human Genetics, Bd. 107, Nr. 2: S. 364-373
Tan, Jing; Wagner, Matias; Stenton, Sarah L.; Strom, Tim M.; Wortmann, Saskia B.; Prokisch, Holger; Meitinger, Thomas; Oexle, Konrad und Klopstock, Thomas
(2020):
Lifetime risk of autosomal recessive mitochondrial disorders calculated from genetic databases.
In: eBioMedicine, Bd. 54, 102730
[PDF, 842kB]
Blechner, Christine; Becker, Lore; Fuchs, Helmut; Rathkolb, Birgit; Prehn, Cornelia; Adler, Thure; Calzada-Wack, Julia; Garrett, Lillian; Gailus-Durner, Valerie; Morellini, Fabio; Conrad, Susanne; Hoelter, Sabine M.; Wolf, Eckhard; Klopstock, Thomas; Adamski, Jerzy; Busch, Dirk; de Angelis, Martin Hrabe; Schmeisser, Michael J. und Windhorst, Sabine
(2020):
Physiological relevance of the neuronal isoform of inositol-1,4,5-trisphosphate 3-kinases in mice.
In: Neuroscience Letters, Bd. 735, 135206
Catarino, Claudia B.; Livonius, Bettina von; Priglinger, Claudia; Banik, Rudrani; Matloob, Selma; Tamhankar, Madhura A.; Castillo, Lorena; Friedburg, Christoph; Halfpenny, Christopher A.; Lincoln, John A.; Traber, Ghislaine L.; Acaroglu, Goelge; Black, Graeme C. M.; Doncel, Carlos; Fraser, Clare L.; Jakubaszko, Joanna; Landau, Klara; Langenegger, Stefan J.; Munoz-Negrete, Francisco J.; Newman, Nancy J.; Poulton, Joanna; Scoppettuolo, Elisabetta; Subramanian, Prem; Toosy, Ahmed T.; Vidal, Mariona; Vincent, Andrea L.; Votruba, Marcela; Zarowski, Marcin; Zermansky, Adam; Lob, Felice; Rudolph, Guenther; Mikazans, Oskars; Silva, Magda; Lloria, Xavier; Metz, Guenther und Klopstock, Thomas
(2020):
Real-World Clinical Experience With Idebenone in the Treatment of Leber Hereditary Optic Neuropathy.
In: Journal of Neuro-Ophthalmology, Bd. 40, Nr. 4: S. 558-565
[PDF, 358kB]
Bryant, Laura; Li, Dong; Cox, Samuel G.; Marchione, Dylan; Joiner, Evan F.; Wilson, Khadija; Janssen, Kevin; Lee, Pearl; March, Michael E.; Nair, Divya; Sherr, Elliott; Fregeau, Brieana; Wierenga, Klaas J.; Wadley, Alexandrea; Mancini, Grazia M. S.; Powell-Hamilton, Nina; Kamp, Jiddeke van de; Grebe, Theresa; Dean, John; Ross, Alison; Crawford, Heather P.; Powis, Zoe; Cho, Megan T.; Willing, Marcia C.; Manwaring, Linda; Schot, Rachel; Nava, Caroline; Afenjar, Alexandra; Lessel, Davor; Wagner, Matias; Klopstock, Thomas; Winkelmann, Juliane; Catarino, Claudia B.; Retterer, Kyle; Schuette, Jane L.; Innis, Jeffrey W.; Pizzino, Amy; Luttgen, Sabine; Denecke, Jonas; Strom, Tim M.; Monaghan, Kristin G.; Yuan, Zuo-Fei; Dubbs, Holly; Bend, Renee; Lee, Jennifer A.; Lyons, Michael J.; Hoefele, Julia; Gunthner, Roman; Reutter, Heiko; Keren, Boris; Radtke, Kelly; Sherbini, Omar; Mrokse, Cameron; Helbig, Katherine L.; Odent, Sylvie; Cogne, Benjamin; Mercier, Sandra; Bezieau, Stephane; Besnard, Thomas; Kury, Sebastien; Redon, Richard; Reinson, Karit; Wojcik, Monica H.; Ounap, Katrin; Ilves, Pilvi; Innes, A. Micheil; Kernohan, Kristin D.; Costain, Gregory; Meyn, M. Stephen; Chitayat, David; Zackai, Elaine; Lehman, Anna; Kitson, Hilary; Martin, Martin G.; Martinez-Agosto, Julian A.; Nelson, Stan F.; Palmer, Christina G. S.; Papp, Jeanette C.; Parker, Neil H.; Sinsheimer, Janet S.; Vilain, Eric; Wan, Jijun; Yoon, Amanda J.; Zheng, Allison; Brimble, Elise; Ferrero, Giovanni Battista; Radio, Francesca Clementina; Carli, Diana; Barresi, Sabina; Brusco, Alfredo; Tartaglia, Marco; Thomas, Jennifer Muncy; Umana, Luis; Weiss, Marjan M.; Gotway, Garrett; Stuurman, K. E.; Thompson, Michelle L.; McWalter, Kirsty; Stumpel, Constance T. R. M.; Stevens, Servi J. C.; Stegmann, Alexander P. A.; Tveten, Kristian; Vollo, Arve; Prescott, Trine; Fagerberg, Christina; Laulund, Lone Walentin; Larsen, Martin J.; Byler, Melissa; Lebel, Robert Roger; Hurst, Anna C.; Dean, Joy; Vergano, Samantha A. Schrier; Norman, Jennifer; Mercimek-Andrews, Saadet; Neira, Juanita; Allen, Margot van; Longo, Nicola; Sellars, Elizabeth; Louie, Raymond J.; Cathey, Sara S.; Brokamp, Elly; Heron, Delphine; Snyder, Molly; Vanderver, Adeline; Simon, Celeste; de la Cruz, Xavier; Padilla, Natalia; Crump, J. Gage; Chung, Wendy; Garcia, Benjamin; Hakonarson, Hakon H. und Bhoj, Elizabeth J.
(2020):
Histone H3.3 beyond cancer: Germline mutations in Histone 3 Family 3A and 3B cause a previously unidentified neurodegenerative disorder in 46 patients.
In: Science Advances, Bd. 6, Nr. 49, eabc9207
[PDF, 703kB]
Yu-Wai-Man, Patrick; Newman, Nancy J.; Carelli, Valerio; Moster, Mark L.; Biousse, Valerie; Sadun, Alfredo A.; Klopstock, Thomas; Vignal-Clermont, Catherine; Sergott, Robert C.; Rudolph, Gunther; La Morgia, Chiara; Karanjia, Rustum; Taiel, Magali; Blouin, Laure; Burguiere, Pierre; Smits, Gerard; Chevalier, Caroline; Masonson, Harvey; Salermo, Yordak; Katz, Barrett; Picaud, Serge; Calkins, David J. und Sahel, Jose-Alain
(2020):
Bilateral visual improvement with unilateral gene therapy injection for Leber hereditary optic neuropathy.
In: Science Translational Medicine, Bd. 12, Nr. 573, eaaz7423
Indelicato, Elisabetta; Nachbauer, Wolfgang; Eigentler, Andreas; Amprosi, Matthias; Gothe, Raffaella Matteucci; Giunti, Paola; Mariotti, Caterina; Arpa, Javier; Durr, Alexandra; Klopstock, Thomas; Schoels, Ludger; Giordano, Ilaria; Bürk, Katrin; Pandolfo, Massimo; Didszdun, Claire; Schulz, Jörg B. und Bösch, Sylvia
(2020):
Onset features and time to diagnosis in Friedreich's Ataxia.
In: Orphanet Journal of Rare Diseases, Bd. 15, Nr. 1, 198
Stendel, Claudia; Neuhofer, Christiane; Floride, Elisa; Shi, Yuqing; Ganetzky, Rebecca D.; Park, Joohyun; Freisinger, Peter; Kornblum, Cornelia; Kleinle, Stephanie; Schoels, Ludger; Distelmaier, Felix; Stettner, Georg M.; Buechner, Boriana; Falk, Marni J.; Mayr, Johannes A.; Synofzik, Matthis; Abicht, Angela; Haack, Tobias B.; Prokisch, Holger; Wortmann, Saskia B.; Murayama, Kei; Fang, Fang und Klopstock, Thomas
(2020):
Delineating MT-ATP6-associated disease.
In: Neurology-Genetics, Bd. 6, Nr. 1, e393
[PDF, 543kB]
Neuhofer, Christiane M.; Catarino, Claudia B.; Schmidt, Heinrich; Seelos, Klaus; Alhaddad, Bader; Haack, Tobias B. und Klopstock, Thomas
(2020):
LINS1-associated neurodevelopmental disorder: Family with novel mutation expands the phenotypic spectrum.
In: Neurology-Genetics, Bd. 6, Nr. 5, e500
[PDF, 348kB]
Radelfahr, Florentine; Riedhammer, Korbinian M.; Keidel, Leonie F.; Gramer, Gwendolyn; Meitinger, Thomas; Klopstock, Thomas und Wagner, Matias
(2020):
Biotinidase deficiency: A treatable cause of hereditary spastic paraparesis.
In: Neurology-Genetics, Bd. 6, Nr. 6, e525
[PDF, 187kB]
Stendel, Claudia; D'Adamo, Maria Cristina; Wiessner, Manuela; Dusl, Marina; Cenciarini, Marta; Belia, Silvia; Nematian-Ardestani, Ehsan; Bauer, Peter; Senderek, Jan; Klopstock, Thomas und Pessia, Mauro
(2020):
Association of A Novel Splice Site Mutation in P/Q-Type Calcium Channels with Childhood Epilepsy and Late-Onset Slowly Progressive Non-Episodic Cerebellar Ataxia.
In: International Journal of Molecular Sciences, Bd. 21, Nr. 11, 3810
[PDF, 2MB]
Lucienne, Marie; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V.; Becker, Lore; Calzada-Wack, Julia; Silva-Buttkus, Patricia da; Garrett, Lillian; Holter, Sabine M.; Mayer-Kuckuk, Philipp; Rathkolb, Birgit; Rozman, Jan; Spielmann, Nadine; Treise, Irina; Busch, Dirk H.; Klopstock, Thomas; Schmidt-Weber, Carsten; Wolf, Eckhard; Wurst, Wolfgang; Forny, Merima; Mathis, Deborah; Fingerhut, Ralph; Froese, D. Sean; Gailus-Durner, Valerie; Fuchs, Helmut; Hrabe de Angelis, Martin und Baumgartner, Matthias R.
(2020):
In-depth phenotyping reveals common and novel disease symptoms in a hemizygous knock-in mouse model (Mut-ko/ki) of mut-type methylmalonic aciduria.
In: Biochimica et Biophysica Acta-Molecular Basis of Disease, Bd. 1866, Nr. 3, 165622
[PDF, 2MB]
Murgia, Marta; Tan, Jing; Geyer, Philipp E.; Doll, Sophia; Mann, Matthias und Klopstock, Thomas
(2019):
Proteomics of Cytochrome c Oxidase-Negative versus -Positive Muscle Fiber Sections in Mitochondrial Myopathy.
In: Cell Reports, Bd. 29, Nr. 12
[PDF, 1MB]
Stendel, Claudia; Wagner, Matias; Rudolph, Guenther und Klopstock, Thomas
(2019):
Gillespie's Syndrome with Minor Cerebellar Involvement and No Intellectual Disability Associated with a Novel ITPR1 Mutation: Report of a Case and Literature Review.
In: Neuropediatrics, Bd. 50, Nr. 6: S. 382-386
Priglinger, Claudia; Klopstock, Thomas; Rudolph, Guenter und Priglinger, Siegfried Georg
(2019):
Leberʼsche hereditäre Optikusneuropathie.
In: Klinische Monatsblätter für Augenheilkunde, Bd. 236, Nr. 11: S. 1271-1282
Segal, Joanna; Muelleder, Michael; Krüger, Antje; Adler, Thure; Scholze-Wittler, Manuela; Becker, Lore; Calzada-Wack, Julia; Garrett, Lillian; Hoelter, Sabine M.; Rathkolb, Birgit; Rozman, Jan; Racz, Ildiko; Fischer, Ralf; Busch, Dirk H.; Neff, Frauke; Klingenspor, Martin; Klopstock, Thomas; Grüning, Nana-Maria; Michel, Steve; Lukaszewska-McGreal, Beata; Voigt, Ingo; Hartmann, Ludger; Timmermann, Bernd; Lehrach, Hans; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valerie; Fuchs, Helmut; de Angelis, Martin H.; Schrewe, Heinrich; Yuneva, Mariia und Ralser, Markus
(2019):
Low catalytic activity is insufficient to induce disease pathology in triosephosphate isomerase deficiency.
In: Journal of Inherited Metabolic Disease, Bd. 42, Nr. 5: S. 839-849
[PDF, 3MB]
Bax, Bridget E.; Levene, Michelle; Bain, Murray D.; Fairbanks, Lynette D.; Filosto, Massimiliano; Ucar, Sema Kalkan; Klopstock, Thomas ORCID: https://orcid.org/0000-0003-2805-4652; Kornblum, Cornelia; Mandel, Hanna; Rahman, Shamima; Roubertie, Agathe; Scarpelli, Mauro; Sedgwick, Philip M.; Baru, Moshe; Sellos-Moura, Marcia; Price, Jeanie; Horn, Patrick und Nirmalananthan, Niranjanan
(2019):
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
In: Journal of Clinical Medicine, Bd. 8, Nr. 8, 1096
[PDF, 1MB]
ORCID: https://orcid.org/0000-0003-2805-4652; Kornblum, Cornelia; Mandel, Hanna; Rahman, Shamima; Roubertie, Agathe; Scarpelli, Mauro; Sedgwick, Philip M.; Baru, Moshe; Sellos-Moura, Marcia; Price, Jeanie; Horn, Patrick und Nirmalananthan, Niranjanan
(2019):
Erythrocyte Encapsulated Thymidine Phosphorylase for the Treatment of Patients with Mitochondrial Neurogastrointestinal Encephalomyopathy: Study Protocol for a Multi-Centre, Multiple Dose, Open Label Trial.
In: Journal of Clinical Medicine, Bd. 8, Nr. 8, 1096
[PDF, 1MB]
Klopstock, Thomas; Escolar, Maria L.; Marshall, Randall D.; Perez-Duenas, Belen; Tuller, Sarah; Videnovic, Aleksandar und Greblikas, Feriandas
(2019):
The FOsmetpantotenate Replacement Therapy (FORT) randomized, double-blind, Placebo-controlled pivotal trial: Study design and development methodology of a novel primary efficacy outcome in patients with pantothenate kinase-associated neurodegeneration.
In: Clinical Trials, Bd. 16, Nr. 4: S. 410-418
[PDF, 263kB]
Klopstock, Thomas; Tricta, Fernando; Neumayr, Lynne; Karin, Ivan; Zorzi, Giovanna; Fradette, Caroline; Kmiec, Tomasz; Buchner, Boriana; Steele, Hannah E.; Horvath, Rita; Chinnery, Patrick F.; Basu, Anna; Kupper, Clemens; Neuhofer, Christiane; Kalman, Bernadette; Dusek, Petr; Yapici, Zuhal; Wilson, Ian; Zhao, Feng; Zibordi, Federica; Nardocci, Nardo; Aguilar, Christine; Hayflick, Susan J.; Spino, Michael; Blamire, Andrew M.; Hogarth, Penelope und Vichinsky, Elliott
(2019):
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study.
In: Lancet Neurology, Bd. 18, Nr. 7: S. 631-642
Coarelli, Giulia; Schule, Rebecca; van de Warrenburg, Bart P. C.; De Jonghe, Peter; Ewenczyk, Claire; Martinuzzi, Andrea; Synofzik, Matthis; Hamer, Elisa G.; Baets, Jonathan; Anheim, Mathieu; Schoels, Ludger; Deconinck, Tine; Masrori, Pegah; Fontaine, Bertrand; Klockgether, Thomas; D'Angelo, Maria Grazia; Monin, Marie-Lorraine; De Bleecker, Jan; Migeotte, Isabelle; Charles, Perrine; Bassi, Maria Teresa; Klopstock, Thomas; Mochel, Fanny; Ollagnon-Roman, Elisabeth; D'Hooghe, Marc; Kamm, Christoph; Kurzwelly, Delia; Papin, Melanie; Davoine, Claire-Sophie; Banneau, Guillaume; du Montcel, Sophie Tezenas; Seilhean, Danielle; Brice, Alexis; Duyckaerts, Charles; Stevanin, Giovanni und Durr, Alexandra
(2019):
Loss of paraplegin drives spasticity rather than ataxia in a cohort of 241 patients with SPG7.
In: Neurology, Bd. 92, Nr. 23, E2679-E2690
Dorst, Johannes; Chen, Lu; Rosenbohm, Angela; Dreyhaupt, Jens; Huebers, Annemarie; Schuster, Joachim; Weishaupt, Jochen H.; Kassubek, Jan; Gess, Burkhard; Meyer, Thomas; Weyen, Ute; Hermann, Andreas; Winkler, Jürgen; Grehl, Torsten; Hagenacker, Tim; Lingor, Paul; Koch, Jan C.; Sperfeld, Anne; Petri, Susanne; Grosskreutz, Julian; Metelmann, Moritz; Wolf, Joachim; Winkler, Andrea S.; Klopstock, Thomas; Boentert, Matthias; Johannesen, Siw; Storch, Alexander; Schrank, Bertold; Zeller, Daniel; Liu, Xiao-lu; Tang, Lu; Fan, Dong-Sheng und Ludolph, Albert C.
(2019):
Prognostic factors in ALS: a comparison between Germany and China.
In: Journal of Neurology, Bd. 266, Nr. 6: S. 1516-1525
Ganetzky, Rebecca D.; Stendel, Claudia; McCormick, Elizabeth M.; Zolkipli-Cunningham, Zarazuela; Goldstein, Amy C.; Klopstock, Thomas und Falk, Marni J.
(2019):
MT-ATP6 mitochondrial disease variants: Phenotypic and biochemical features analysis in 218 published cases and cohort of 14 new cases.
In: Human Mutation, Bd. 40, Nr. 5: S. 499-515
Radelfahr, Florentine und Klopstock, Thomas
(2019):
Mitochondriale Erkrankungen.
In: Nervenarzt, Bd. 90, Nr. 2: S. 121-130
Sobrido, Maria-Jesus; Bauer, Peter; de Koning, Tom; Klopstock, Thomas; Nadjar, Yann; Patterson, Marc C.; Synofzik, Matthis und Hendriksz, Chris J.
(2019):
Recommendations for patient screening in ultra-rare inherited metabolic diseases: what have we learned from Niemann-Pick disease type C?
In: Orphanet Journal of Rare Diseases, Bd. 14, 20
[PDF, 696kB]
Marshall, Randall D.; Collins, Abigail; Escolar, Maria L.; Jinnah, H. A.; Klopstock, Thomas; Kruer, Michael C.; Videnovic, Aleksandar; Robichaux-Viehoever, Amy; Burns, Colleen; Swett, Laura L.; Revicki, Dennis A.; Bender, Randall H. und Lenderking, William R.
(2019):
Diagnostic and clinical experience of patients with pantothenate kinase-associated neurodegeneration.
In: Orphanet Journal of Rare Diseases, Bd. 14, 174
[PDF, 891kB]
Marshall, Randall D.; Collins, Abigail; Escolar, Maria L.; Jinnah, H. A.; Klopstock, Thomas; Kruer, Michael C.; Videnovic, Aleksandar; Robichaux-Viehoever, Amy; Swett, Laura; Revicki, Dennis A.; Bender, Randall H. und Lenderking, William R.
(2019):
A Scale to Assess Activities of Daily Living in Pantothenate Kinase-Associated Neurodegeneration.
In: Movement Disorders Clinical Practice, Bd. 6, Nr. 2: S. 139-149
Solga, Roxana; Behrens, Juliane; Ziemann, Anja; Riou, Adrien; Berwanger, Carolin; Becker, Lore; Garrett, Lillian; de Angelis, Martin Hrabe; Fischer, Lisa; Coras, Roland; Barkovits, Katalin; Marcus, Katrin; Mahabir, Esther; Eichinger, Ludwig; Schröder, Rolf; Noegel, Angelika A.; Clemen, Christoph S.; Aguilar-Pimentel, Antonio; Schmidt-Weber, Carsten; Klopstock, Thomas; Adler, Thure; Treisel, Irina; Busch, Dirk H.; Moreth, Kristin; Hoelter, Sabine M.; Zimprich, Annemarie; Wurst, Wolfgang; Amarie, Oana; Graw, Jochen; Rozman, Jan; Calzada-Wack, Julia; Racz, Ildiko; Rathkolb, Birgit; Wolf, Eckhard; Oestereicher, Manuela; Miller, Gregor; Lengger, Christoph; Maier, Holger; Stoeger, Claudia; Leuchtenberger, Stefanie; Gallus-Durner, Valerie und Fuchs, Helmut
(2019):
CRN2 binds to TIMP4 and MMP14 and promotes perivascular invasion of glioblastoma cells.
In: European Journal of Cell Biology, Bd. 98, Nr. 5-8, UNSP 151046
Vetrivel, Sharmilee; Tiso, Natascia; Kuegler, Andrea; Irmler, Martin; Horsch, Marion; Beckers, Johannes; Hladik, Daniela; Giesert, Florian; Gailus-Durner, Valerie; Fuchs, Helmut; Sabrautzki, Sibylle; Angelis, Martin Hrabe de; Graw, Jochen; Adler, Thure; Treise, Irina; Busch, Dirk H.; Aguilar-Pimentel, Antonio; Ollert, Markus; Götz, Alexander; Amarie, Oana; Stoeger, Tobias; Schulz, Holger; Becker, Lore; Klopstock, Thomas; Schrewe, Anja; Spielmann, Nadine; Bekeredjian, Raffi; Garrett, Lillian; Hoelter, Sabine M.; Zimprich, Annemarie; Wurst, Wolfgang; Mayer-Kuckuk, Philipp; Hans, Wolfgang; Rozman, Jan; Klingenspor, Martin; Neff, Frauke; Silva-Buttkus, Patricia da; Calzada-Wack, Julia; Racz, Ildiko; Zimmer, Andreas; Rathkolb, Birgit; Wolf, Eckhard; Prehn, Cornelia; Adamski, Jerzy; Oestereicher, Manuela; Miller, Gregor; Steinkamp, Ralph; Lengger, Christoph; Maier, Holger; Stoeger, Claudia und Leuchtenberger, Stefanie
(2019):
Mutation in the mouse histone gene Hist2h3c1 leads to degeneration of the lens vesicle and severe microphthalmia.
In: Experimental Eye Research, Bd. 188, UNSP 107632
[PDF, 7MB]
Dias, Mariana Castro; Coisne, Caroline; Baden, Pascale; Enzmann, Gaby; Garrett, Lillian; Becker, Lore; Hoelter, Sabine M.; de Angelis, Martin Hrabe; Deutsch, Urban; Engelhardt, Britta; Aguilar-Pimentel, Antonio; Adler, Thure; Busch, Dirk H.; Spielmann, Nadine; Moreth, Kristin; Hans, Wolfgang; Amarie, Oana; Graw, Jochen; Rozman, Jan; Radc, Ildiko; Neff, Frauke; Calzada-Wack, Julia; Rathkolb, Birgit; Wolf, Eckhard; Klopstock, Thomas; Wurst, Wolfgang; Beckers, Johannes; Oestereicher, Manuela; Miller, Gregor; Maier, Holger; Stoeger, Claudia; Leuchtenberger, Stefanie; Gailus-Durner, Valerie und Fuchs, Helmut
(2019):
Claudin-12 is not required for blood-brain barrier tight junction function.
In: Fluids and Barriers of the Cns, Bd. 16, Nr. 1, 30
[PDF, 3MB]
Jensen, Lars R.; Garrett, Lillian; Hoelter, Sabine M.; Rathkolb, Birgit; Racz, Ildiko; Adler, Thure; Prehn, Cornelia; Hans, Wolfgang; Rozman, Jan; Becker, Lore; Aguilar-Pimentel, Juan Antonio; Puk, Oliver; Moreth, Kristin; Dopatka, Monika; Walther, Diego J.; Bohlen und Halbach, Viola von; Rath, Matthias; Delatycki, Martin; Bert, Bettina; Fink, Heidrun; Bluemlein, Katharina; Ralser, Markus; Dijck, Anke van; Kooy, Frank; Stark, Zornitza; Müller, Sabine; Scherthan, Harry; Gecz, Jozef; Wurst, Wolfgang; Wolf, Eckhard; Zimmer, Andreas; Klingenspor, Martin; Graw, Jochen; Klopstock, Thomas; Busch, Dirk; Adamski, Jerzy; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Bohlen und Halbach, Oliver von; Ropers, Hans-Hilger und Kuss, Andreas W.
(2019):
A mouse model for intellectual disability caused by mutations in the X-linked 2 '-O-methyltransferase Ftsj1 gene.
In: Biochimica et Biophysica Acta-Molecular Basis of Disease, Bd. 1865, Nr. 9: S. 2083-2093
Kolarova, Hana; Catarino, Claudia B.; Priglinger, Claudia und Klopstock, Thomas
(2019):
Charles Bonnet syndrome in Leber's hereditary optic neuropathy.
In: Journal of Neurology, Bd. 266, Nr. 3: S. 777-779
Brenner, David; Rosenbohm, Angela; Yilmaz, Ruestem; Mueller, Kathrin; Grehl, Torsten; Petri, Susanne; Meyer, Thomas; Grosskreutz, Julian; Weydt, Patrick; Ruf, Wolfgang; Neuwirth, Christoph; Weber, Markus; Pinto, Susana; Claeys, Kristl G.; Schrank, Berthold; Jordan, Berit; Knehr, Antje; Guenther, Kornelia; Huebers, Annemarie; Zeller, Daniel; Kubisch, Christian; Jablonka, Sibylle; Sendtner, Michael; Klopstock, Thomas; de Carvalho, Mamede; Sperfeld, Anne; Borck, Guntram; Volk, Alexander E.; Dorst, Johannes; Weis, Joachim; Otto, Markus; Schuster, Joachim; Del Tredici, Kelly; Braak, Heiko; Danzer, Karin M.; Freischmidt, Axel; Meitinger, Thomas; Ludolph, Albert C.; Andersen, Peter M.; Weishaupt, Jochen H.; Weyen, Ute; Hermann, Andreas; Winkler, Juergen; Hagenacker, Tim; Koch, Jan Christoph; Lingor, Paul; Goericke, Bettina; Zierz, Stephan; Baum, Petra; Wolf, Joachim; Winkler, Andrea; Young, Peter; Bogdahn, Ulrich; Prudlo, Johannes und Kassubek, Jan
(2019):
Reply: Adult-onset distal spinal muscular atrophy: a new phenotype associated with KIF5A mutations.
In: Brain, Bd. 142, e67
[PDF, 190kB]
Reetz, Kathrin; Hilgers, Ralf-Dieter; Isfort, Susanne; Dohmen, Marc; Didszun, Claire; Fedosov, Kathrin; Kistermann, Jennifer; Mariotti, Caterina; Durr, Alexandra; Boesch, Sylvia A.; Klopstock, Thomas; Garrido, Francisco Javier Rodriguez de Rivera; Schoels, Ludger; Klockgether, Thomas; Pandolfo, Massimo; Korinthenberg, Rudolf; Lavin, Philip; Molenberghs, Geert; Libri, Vincenzo; Giunti, Paola; Festenstein, Richard und Schulz, Joerg B.
(2019):
Protocol of a randomized, double-blind, placebo-controlled, parallel-group, multicentre study of the efficacy and safety of nicotinamide in patients with Friedreich ataxia (NICOFA).
In: Neurological Research and Practice, Bd. 1, Nr. 1, 33
[PDF, 1MB]
Ng, Yi Shiau ORCID: https://orcid.org/0000-0002-7591-2034; Bindoff, Laurence A.; Gorman, Gráinne S.; Horvath, Rita; Klopstock, Thomas; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Martikainen, Mika H. ORCID: https://orcid.org/0000-0002-7604-8081; Mcfarland, Robert ORCID: https://orcid.org/0000-0002-8833-2688; Nesbitt, Victoria; Pitceathly, Robert D. S. ORCID: https://orcid.org/0000-0002-6123-4551; Schaefer, Andrew M. und Turnbull, Doug M.
(2019):
Consensus-based statements for the management of mitochondrial stroke-like episodes.
In: Wellcome Open Research, Bd. 4: S. 201
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-7591-2034; Bindoff, Laurence A.; Gorman, Gráinne S.; Horvath, Rita; Klopstock, Thomas; Mancuso, Michelangelo ORCID: https://orcid.org/0000-0003-2738-8562; Martikainen, Mika H. ORCID: https://orcid.org/0000-0002-7604-8081; Mcfarland, Robert ORCID: https://orcid.org/0000-0002-8833-2688; Nesbitt, Victoria; Pitceathly, Robert D. S. ORCID: https://orcid.org/0000-0002-6123-4551; Schaefer, Andrew M. und Turnbull, Doug M.
(2019):
Consensus-based statements for the management of mitochondrial stroke-like episodes.
In: Wellcome Open Research, Bd. 4: S. 201
[PDF, 1MB]
Schnerwitzki, Danny; Perry, Sharn; Ivanova, Anna; Caixeta, Fabio V.; Cramer, Paul; Günther, Sven; Weber, Kathrin; Tafreshiha, Atieh; Becker, Lore; Panesso, Ingrid L. Vargas; Klopstock, Thomas; Hrabe de Angelis, Martin; Schmidt, Manuela; Kullander, Klas und Englert, Christoph
(2018):
Neuron-specific inactivation of Wt1 alters locomotion in mice and changes interneuron composition in the spinal cord.
In: Life Science Alliance, Bd. 1, Nr. 4, e201800106
[PDF, 2MB]
Garrett, Lillian; Becker, Lore; Rozman, Jan; Puk, Oliver; Stoeger, Tobias; Yildirim, Ali Onder; Bohla, Alexander; Eickelberg, Oliver; Hans, Wolfgang; Prehn, Cornelia; Adamski, Jerzy; Klopstock, Thomas; Racz, Ildiko; Zimmer, Andreas; Klingenspor, Martin; Fuchs, Helmut; Gailus-Durner, Valerie; Wurst, Wolfgang; Hrabe de Angelis, Martin; Graw, Jochen und Hölter, Sabine M.
(2018):
Fgf9(Y162C) Mutation Alters Information Processing and Social Memory in Mice.
In: Molecular Neurobiology, Bd. 55, Nr. 6: S. 4580-4595
Andre, Viola; Gaut, Christine; Scheideler, Angelika; Aguilar-Pimentel, Juan A.; Amarie, Oana V.; Becker, Lore; Garrett, Lillian; Hans, Wolfgang; Hölter, Sabine M.; Janik, Dirk; Moreth, Kristin; Neff, Frauke; Östereicher, Manuela; Racz, Ildiko; Rathkolb, Birgit; Rozman, Jan; Bekeredjian, Raffi; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Ollert, Markus; Schmidt-Weber, Carsten; Wolf, Eckhard; Wurst, Wolfgang; Gailus-Durner, Valerie; Brielmeier, Markus; Fuchs, Helmut und Hrabe de Angelis, Martin
(2018):
Laboratory mouse housing conditions can be improved using common environmental enrichment without compromising data.
In: PLOS Biology 16(4), e2005019 [PDF, 5MB]
In: PLOS Biology 16(4), e2005019 [PDF, 5MB]
Fuchs, Helmut; Aguilar-Pimentel, Juan Antonio; Amarie, Oana V.; Becker, Lore; Calzada-Wack, Julia; Cho, Yi-Li; Garrett, Lillian; Hölter, Sabine M.; Irmler, Martin; Kistler, Martin; Kraiger, Markus; Mayer-Kuckuk, Philipp; Moreth, Kristin; Rathkolb, Birgit; Rozman, Jan; Silva Buttkus, Patricia da; Treise, Irina; Zimprich, Annemarie; Gampe, Kristine; Hutterer, Christine; Stoeger, Claudia; Leuchtenberger, Stefanie; Maier, Holger; Miller, Manuel; Scheideler, Angelika; Wu, Moya; Beckers, Johannes; Bekeredjian, Raffi; Brielmeier, Markus; Busch, Dirk H.; Klingenspor, Martin; Klopstock, Thomas; Ollert, Markus; Schmidt-Weber, Carsten; Stoeger, Tobias; Wolf, Eckhard; Wurst, Wolfgang; Yildirim, Ali Oender; Zimmer, Andreas; Gailus-Durner, Valerie und Hrabe de Angelis, Martin
(2018):
Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic.
In: Behavioural Brain Research, Bd. 352: S. 187-196
Schönecker, Sonja; Neuhofer, Christiane; Otto, Markus; Ludolph, Albert; Kassubek, Jan; Landwehrmeyer, Bernhard; Anderl-Straub, Sarah; Semler, Elisa; Diehl-Schmid, Janine; Prix, Catharina; Vollmar, Christian; Fortea, Juan; Huppertz, Hans-Jürgen; Arzberger, Thomas; Edbauer, Dieter; Feddersen, Berend; Dieterich, Marianne; Schröter, Matthias L.; Volk, Alexander E.; Fliessbach, Klaus; Schneider, Anja; Kornhuber, Johannes; Maler, Manuel; Prudlo, Johannes; Jahn, Holger; Böckh-Behrens, Tobias; Danek, Adrian; Klopstock, Thomas und Levin, Johannes
(2018):
Atrophy in the Thalamus But Not Cerebellum Is Specific for C9orf72 FTD and ALS Patients - An Atlas-Based Volumetric MRI Study.
In: Frontiers in Aging Neuroscience, Bd. 10, 45
[PDF, 1MB]
Catarino, Claudia B.; Vollmar, Christian; Kuepper, Clemens; Seelos, Klaus; Gallenmüller, Constanze; Bartkiewicz, Joanna; Biskup, Saskia; Hoertnagel, Konstanze und Klopstock, Thomas
(2018):
Brain diffusion tensor imaging changes in cerebrotendinous xanthomatosis reversed with treatment.
In: Journal of Neurology, Bd. 265, Nr. 2: S. 388-393
Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger und Wortmann, Saskia
(2018):
Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?
In: Orphanet Journal of Rare Diseases
13:120
[PDF, 3MB]
Finsterer, Josef; Mancuso, Michelangelo; Pareyson, Davide; Burgunder, Jean-Marc und Klopstock, Thomas
(2018):
Mitochondrial disorders of the retinal ganglion cells and the optic nerve.
In: Mitochondrion, Bd. 42: S. 1-10
Reetz, Kathrin; Dogan, Imis; Hohenfeld, Christian; Didszun, Claire; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Bösch, Sylvia; Klopstock, Thomas; Rodriguez de Rivera Garrid, Francisco Javier; Schöls, Ludger; Giordano, Ilaria; Buerk, Katrin; Pandolfo, Massimo und Schulz, Jörg B.
(2018):
Nonataxia symptoms in Friedreich Ataxia Report from the Registry of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS).
In: Neurology, Bd. 91, Nr. 10, E917-E930
[PDF, 475kB]
Melac, Audrey Tanguy; Mariotti, Caterina; Pierucci, Antoine Filipovic; Giunti, Paola; Arpa, Javier; Bösch, Sylvia; Klopstock, Thomas; vom Hagen, Jennifer Müller; Klockgether, Thomas; Buerk, Katrin; Schulz, Jörg B.; Reetz, Kathrin; Pandolfo, Massimo; Durr, Alexandra und du Montcel, Sophie Tezenas
(2018):
Friedreich and dominant ataxias: quantitative differences in cerebellar dysfunction measurements.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 6: S. 559-565
[PDF, 363kB]
Müller, Kathrin; Brenner, David; Weydt, Patrick; Meyer, Thomas; Grehl, Torsten; Petri, Susanne; Grosskreutz, Julian; Schuster, Joachim; Volk, Alexander E.; Borck, Guntram; Kubisch, Christian; Klopstock, Thomas; Zeller, Daniel; Jablonka, Sibylle; Sendtner, Michael; Klebe, Stephan; Knehr, Antje; Günther, Kornelia; Weis, Joachim; Claeys, Kristl G.; Schrank, Berthold; Sperfeld, Anne-Dorte; Hübers, Annemarie; Otto, Markus; Dorst, Johannes; Meitinger, Thomas; Strom, Tim M.; Andersen, Peter M.; Ludolph, Albert C. und Weishaupt, Jochen H.
(2018):
Comprehensive analysis of the mutation spectrum in 301 German ALS families.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 89, Nr. 8: S. 817-827
[PDF, 637kB]
Radelfahr, Florentine und Klopstock, Thomas
(2018):
Diagnostik und Therapie Mitochondrialer Erkrankungen.
In: Fortschritte der Neurologie, Psychiatrie, Bd. 86, Nr. 9: S. 584-591
Feil, Katharina; Adrion, Christine ORCID: https://orcid.org/0000-0003-2408-2533; Teufel, Julian; Bösch, Sylvia; Claassen, Jens; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schöls, Ludger; Stendel, Claudia; Uslar, Ellen; Warrenburg, Bart van de; Berger, Ingrid; Naumann, Ivonne; Bayer, Otmar; Müller, Hans-Helge; Mansmann, Ulrich und Strupp, Michael
(2017):
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.
In: BMC Neurology
17: S. 7
[PDF, 615kB]
ORCID: https://orcid.org/0000-0003-2408-2533; Teufel, Julian; Bösch, Sylvia; Claassen, Jens; Giordano, Ilaria; Hengel, Holger; Jacobi, Heike; Klockgether, Thomas; Klopstock, Thomas; Nachbauer, Wolfgang; Schöls, Ludger; Stendel, Claudia; Uslar, Ellen; Warrenburg, Bart van de; Berger, Ingrid; Naumann, Ivonne; Bayer, Otmar; Müller, Hans-Helge; Mansmann, Ulrich und Strupp, Michael
(2017):
Effects of acetyl-DL-leucine on cerebellar ataxia (ALCAT trial): study protocol for a multicenter, multinational, randomized, double-blind, placebo-controlled, crossover phase III trial.
In: BMC Neurology
17: S. 7
[PDF, 615kB]
Schludi, Martin H.; Becker, Lore; Garrett, Lillian; Gendron, Tania F.; Zhou, Qihui; Schreiber, Franziska; Popper, Bastian; Dimou, Leda; Strom, Tim M.; Winkelmann, Juliane; Thaden, Anne von; Rentzsch, Kristin; May, Stephanie; Michaelsen, Meike; Schwenk, Benjamin M.; Tan, Jing; Schoser, Benedikt; Dieterich, Marianne; Petrucelli, Leonard; Hölter, Sabine M.; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Klopstock, Thomas; Arzberger, Thomas und Edbauer, Dieter
(2017):
Spinal poly-GA inclusions in a C9orf72 mouse model trigger motor deficits and inflammation without neuron loss.
In: Acta Neuropathologica, Bd. 134, Nr. 2: S. 241-254
Karin, Ivan; Borggräfe, Ingo; Catarino, Claudia B.; Kuhm, Christoph; Hörtnagel, Konstanze; Biskup, Saskia; Opladen, Thomas; Blau, Nenad; Heinen, Florian und Klopstock, Thomas
(2017):
Folinic acid therapy in cerebral folate deficiency: marked improvement in an adult patient.
In: Journal of Neurology, Bd. 264, Nr. 3: S. 578-582
Schoels, Ludger; Rattay, Tim W.; Martus, Peter; Meisner, Christoph; Baets, Jonathan; Fischer, Imma; Jaegle, Christine; Fraidakis, Matthew J.; Martinuzzi, Andrea; Saute, Jonas Alex; Scarlato, Marina; Antenora, Antonella; Stendel, Claudia; Hoeflinger, Philip; Lourenco, Charles Marques; Abreu, Lisa; Smets, Katrien; Paucar, Martin; Deconinck, Tine; Bis, Dana M.; Wiethoff, Sarah; Bauer, Peter; Arnoldi, Alessia; Marques, Wilson; Jardim, Laura Bannach; Hauser, Stefan; Criscuolo, Chiara; Filla, Alessandro; Zuchner, Stephan; Bassi, Maria Teresa; Klopstock, Thomas; Jonghe, Peter de; Bjorkhem, Ingemar und Schuele, Rebecca
(2017):
Hereditary spastic paraplegia type 5: natural history, biomarkers and a randomized controlled trial.
In: Brain, Bd. 140: S. 3112-3127
Giordano, Ilaria; Harmuth, Florian; Jacobi, Heike; Paap, Brigitte; Vielhaber, Stefan; Machts, Judith; Schöls, Ludger; Synofzik, Matthis; Sturm, Marc; Tallaksen, Chantal; Wedding, Iselin M.; Bösch, Sylvia; Eigentler, Andreas; Warrenburg, Bart van de; Gaalen, Judith van; Kamm, Christoph; Dudesek, Ales; Kang, Jun-Suk; Timmann, Dagmar; Silvestri, Gabriella; Masciullo, Marcella; Klopstock, Thomas; Neuhofer, Christiane; Ganos, Christos; Filla, Alessandro; Bauer, Peter; Montcel, Sophie Tezenas du und Klockgether, Thomas
(2017):
Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia.
In: Neurology, Bd. 89, Nr. 10: S. 1043-1049
[PDF, 163kB]
Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger und Klopstock, Thomas
(2017):
Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA.
In: Mitochondrion, Bd. 36: S. 15-20
Minnerop, Martina; Kurzwelly, Delia; Wagner, Holger; Söhn, Anne S.; Reichbauer, Jennifer; Tao, Feifei; Rattay, Tim W.; Peitz, Michael; Rehbach, Kristina; Giorgetti, Alejandro; Pyle, Angela; Thiele, Holger; Altmüller, Janine; Timmann, Dagmar; Karaca, Ilker; Lennarz, Martina; Bäts, Jonathan; Hengel, Holger; Synofzik, Matthis; Atasu, Burcu; Feely, Shawna; Kennerson, Marina; Stendel, Claudia; Lindig, Tobias; Gonzalez, Michael A.; Stirnberg, Rüdiger; Sturm, Marc; Röske, Sandra; Jung, Johanna; Bauer, Peter; Lohmann, Ebba; Herms, Stefan; Heilmann-Heimbach, Stefanie; Nicholson, Garth; Mahanjah, Muhammad; Sharkia, Rajech; Carloni, Paolo; Brüstle, Oliver; Klopstock, Thomas; Mathews, Katherine D.; Shy, Michael E.; Jonghe, Peter de; Chinnery, Patrick F.; Horvath, Rita; Kohlhase, Jürgen; Schmitt, Ina; Wolf, Michael; Greschus, Susanne; Amunts, Katrin; Maier, Wolfgang; Schöls, Ludger; Nürnberg, Peter; Zuchner, Stephan; Klockgether, Thomas; Ramirez, Alfredo und Schüle, Rebecca
(2017):
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia.
In: Brain, Bd. 140: S. 1561-1578
Schrank, Bertold; Schoser, Benedikt; Klopstock, Thomas; Schneiderat, Peter; Horvath, Rita; Abicht, Angela; Holinski-Feder, Elke und Augustis, Sarunas
(2017):
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency.
In: Neuromuscular Disorders, Bd. 27, Nr. 5: S. 473-476
Zhou, Qihui; Lehmer, Carina; Michaelsen, Meike; Mori, Kohji; Alterauge, Dominik; Baumjohann, Dirk; Schludi, Martin H.; Greiling, Johanna; Farny, Daniel; Flatley, Andrew; Feederle, Regina; May, Stephanie; Schreiber, Franziska; Arzberger, Thomas; Kuhm, Christoph; Klopstock, Thomas; Hermann, Andreas; Haass, Christian ORCID: https://orcid.org/0000-0002-4869-1627 und Edbauer, Dieter
(2017):
Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins.
In: Embo Molecular Medicine, Bd. 9, Nr. 5: S. 687-702
ORCID: https://orcid.org/0000-0002-4869-1627 und Edbauer, Dieter
(2017):
Antibodies inhibit transmission and aggregation of C9orf72 poly-GA dipeptide repeat proteins.
In: Embo Molecular Medicine, Bd. 9, Nr. 5: S. 687-702
Egana, Isabel; Kaito, Hiroshi; Nitzsche, Anja; Becker, Lore; Ballester-Lopez, Carolina; Niaudet, Colin; Petkova, Milena; Liu, Wei; Vanlandewijck, Michael; Vernaleken, Alexandra; Klopstock, Thomas; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Rask-Andersen, Helge; Johansson, Henrik J.; Lehtio, Janne; He, Liqun; Yildirim, Ali O. und Hellstrom, Mats
(2017):
Female mice lacking Pald1 exhibit endothelial cell apoptosis and emphysema.
In: Scientific Reports, Bd. 7, 15453
[PDF, 3MB]
Kumar, Sudhir; Rathkolb, Birgit; Sabrautzki, Sibylle; Krebs, Stefan; Kemter, Elisabeth; Becker, Lore; Beckers, Johannes; Bekeredjian, Raffi; Brommage, Robert; Calzada-Wack, Julia; Garrett, Lillian; Hölter, Sabine M.; Horsch, Marion; Klingenspor, Martin; Klopstock, Thomas; Moreth, Kristin; Neff, Frauke; Rozman, Jan; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin; Wolf, Eckhard und Aigner, Bernhard
(2017):
Standardized, systemic phenotypic analysis reveals kidney dysfunction as main alteration of Kctd1(I27N) mutant mice.
In: Journal of Biomedical Science
24:57
[PDF, 870kB]
Zimprich, Annemarie; Mroz, Gabi; Meyer zu Reckendorf, Christopher; Anastasiadou, Sofia; Förstner, Philip; Garrett, Lillian; Hölter, Sabine M.; Becker, Lore; Rozman, Jan; Prehn, Cornelia; Rathkolb, Birgit; Moreth, Kristin; Wurst, Wolfgang; Klopstock, Thomas; Klingenspor, Martin; Adamski, Jerzy; Wolf, Eckhard; Bekeredjian, Raffi; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabe de Angelis, Martin und Knöll, Bernd
(2017):
Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms.
In: Molecular Neurobiology, Bd. 54, Nr. 10: S. 8242-8262
Salminen, Aaro V.; Garrett, Lillian; Schormair, Barbara; Rozman, Jan; Giesert, Florian; Niedermeier, Kristina M.; Becker, Lore; Rathkolb, Birgit; Racz, Ildiko; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Zimmer, Andreas; Gailus-Durner, Valerie; Torres, Miguel; Fuchs, Helmut; Hrabe de Angelis, Martin; Wurst, Wolfgang; Hölter, Sabine M. und Winkelmann, Juliane
(2017):
Meis1: effects on motor phenotypes and the sensorimotor system in mice.
In: Disease Models & Mechanisms, Bd. 10, Nr. 8: S. 981-991
Hogarth, Penelope; Kurian, Manju A.; Gregory, Allison; Csányi, Barbara; Zagustin, Tamara; Kmiec, Tomasz; Wood, Patricia; Klucken, Angelika; Scalise, Natale; Sofia, Francesca; Klopstock, Thomas; Zorzi, Giovanna; Nardocci, Nardo und Hayflick, Susan J.
(2017):
Consensus clinical management guideline for pantothenate kinase-associated neurodegeneration (PKAN).
In: Molecular Genetics and Metabolism, Bd. 120, Nr. 3: S. 278-287
Kumar, Sudhir; Rathkolb, Birgit; Kemter, Elisabeth; Sabrautzki, Sibylle; Michel, Dian; Adler, Thure; Becker, Lore; Beckers, Johannes; Busch, Dirk H.; Garrett, Lillian; Hans, Wolfgang; Hölter, Sabine M.; Horsch, Marion; Klingenspor, Martin; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Panesso, Ingrid Liliana Vargas; Vernaleken, Alexandra; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valerie; de Angelis, Martin Hrabe; Wolf, Eckhard und Aigner, Bernhard
(2016):
Generation and Standardized, Systemic Phenotypic Analysis of Pou3f3(L423P) Mutant Mice.
In: PLOS ONE 11(3), e0150472 [PDF, 1MB]
In: PLOS ONE 11(3), e0150472 [PDF, 1MB]
Peleg, Shahaf; Feller, Christian; Forne, Ignasi; Schiller, Evelyn; Sévin, Daniel C.; Schauer, Tamas; Regnard, Catherine; Straub, Tobias; Prestel, Matthias; Klima, Caroline; Schmitt Nogueira, Melanie; Becker, Lore; Klopstock, Thomas; Sauer, Uwe; Becker, Peter B. ORCID: https://orcid.org/0000-0001-7186-0372; Imhof, Axel und Ladurner, Andreas G.
(2016):
Life span extension by targeting a link between metabolism and histone acetylation in Drosophila.
In: Embo Reports, Bd. 17, Nr. 3: S. 455-469
ORCID: https://orcid.org/0000-0001-7186-0372; Imhof, Axel und Ladurner, Andreas G.
(2016):
Life span extension by targeting a link between metabolism and histone acetylation in Drosophila.
In: Embo Reports, Bd. 17, Nr. 3: S. 455-469
Klopstock, Thomas; Klopstock, Barbara und Prokisch, Holger
(2016):
Mitochondrial replacement approaches: challenges for clinical implementation.
In: Genome Medicine
8:126
[PDF, 301kB]
Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger und Haack, Tobias B.
(2016):
Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy.
In: American Journal of Human Genetics, Bd. 98, Nr. 2: S. 358-362
Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J. und Klopstock, Thomas
(2016):
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy.
In: American Journal of Human Genetics, Bd. 99, Nr. 3: S. 735-743
Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix und Prokisch, Holger
(2016):
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood.
In: American Journal of Human Genetics, Bd. 99, Nr. 4: S. 894-902
Metz, Guenther; Hasham, Shabir; Catarino, Claudia und Klopstock, Thomas
(2016):
Treatment of visual impairment in patients with Leber's Hereditary Optic Neuropathy (LHON) using Idebenone (Raxone®).
In: Investigative Ophthalmology & Visual Science, Bd. 57, Nr. 12
Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G. und Klopstock, Thomas
(2016):
Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry.
In: Journal of Neurology, Bd. 263, Nr. 5: S. 961-972
Reetz, Kathrin; Dogan, Imis; Hilgers, Ralf-Dieter; Giunti, Paola; Mariotti, Caterina; Durr, Alexandra; Boesch, Sylvia; Klopstock, Thomas; Rodriguez de Rivera, Francisco Javier; Schöls, Ludger; Klockgether, Thomas; Bürk, Katrin; Rai, Myriam; Pandolfo, Massimo und Schulz, Jörg B.
(2016):
Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study.
In: Lancet Neurology, Bd. 15, Nr. 13: S. 1346-1354
Lukacs, Zoltan; Cobos, Paulina Nieves; Wenninger, Stephan; Willis, Tracey A.; Guglieri, Michela; Roberts, Marc; Quinlivan, Rosaline; Hilton-Jones, David; Evangelista, Teresinha; Zierz, Stephan; Schlotter-Weigel, Beate; Walter, Maggie C.; Reilich, Peter; Klopstock, Thomas; Deschauer, Marcus; Straub, Volker; Müller-Felber, Wolfgang und Schoser, Benedikt
(2016):
Prevalence of Pompe disease in 3,076 patients with hyperCKemia and limb-girdle muscular weakness.
In: Neurology, Bd. 87, Nr. 3: S. 295-298
Fuchs, Helmut; Sabrautzki, Sibylle; Przemeck, Gerhard K. H.; Leuchtenberger, Stefanie; Lorenz-Depiereux, Bettina; Becker, Lore; Rathkolb, Birgit; Horsch, Marion; Garrett, Lillian; Östereicher, Manuela A.; Hans, Wolfgang; Abe, Koichiro; Sagawa, Nobuho; Rozman, Jan; Vargas-Panesso, Ingrid L.; Sandholzer, Michael; Lisse, Thomas S.; Adler, Thure; Aguilar-Pimentel, Juan Antonio; Calzada-Wack, Julia; Ehrhard, Nicole; Elvert, Ralf; Gau, Christine; Hölter, Sabine M.; Micklich, Katja; Moreth, Kristin; Prehn, Cornelia; Puk, Oliver; Racz, Ildiko; Stoeger, Claudia; Vernaleken, Alexandra; Michel, Dian; Diener, Susanne; Wieland, Thomas; Adamski, Jerzy; Bekeredjian, Raffi; Busch, Dirk H.; Favor, John; Graw, Jochen; Klingenspor, Martin; Lengger, Christoph; Maier, Holger; Neff, Frauke; Ollert, Markus; Stoeger, Tobias; Yildirim, Ali Önder; Strom, Tim M.; Zimmer, Andreas; Wolf, Eckhard; Wurst, Wolfgang; Klopstock, Thomas; Beckers, Johannes; Gailus-Durner, Valerie und Hrabé de Angelis, Martin
(2016):
The First Scube3 Mutant Mouse Line with Pleiotropic Phenotypic Alterations.
In: G3-Genes Genomes Genetics, Bd. 6, Nr. 12: S. 4035-4046
Klopstock, Thomas; Metz, Guenther; Gallenmüller, Constanze; Livonius, Bettina von; Lob, Felice; Meier, Thomas und Catarino, Claudia
(2016):
Idebenone Is Effective and Well Tolerated in Leber's Hereditary Optic Neuropathy (LHON): Results of a 3-Year Expanded Access Program.
In: Neurology, Bd. 86
Souren, Nicole Y. P.; Gerdes, Lisa A.; Kümpfel, Tania; Lutsik, Pavlo; Klopstock, Thomas; Hohlfeld, Reinhard und Walter, Jörn
(2016):
Mitochondrial DNA Variation and Heteroplasmy in Monozygotic Twins Clinically Discordant for Multiple Sclerosis.
In: Human Mutation, Bd. 37, Nr. 8: S. 765-775
Yu-Wai-Man, Patrick; Hudson, Gavin; Klopstock, Thomas und Chinnery, Patrick F.
(2016):
Reply: Parsing the differences in affected with LHON: genetic versus environmental triggers of disease conversion.
In: Brain, Bd. 139, e18
Synofzik, Matthis; Smets, Katrien; Mallaret, Martial; Di Bella, Daniela; Gallenmüller, Constanze; Baets, Jonathan; Schulze, Martin; Magri, Stefania; Sarto, Elisa; Mustafa, Mona; Deconinck, Tine; Haack, Tobias; Züchner, Stephan; Gonzalez, Michael; Timmann, Dagmar; Stendel, Claudia; Klopstock, Thomas; Durr, Alexandra; Tranchant, Christine; Sturm, Marc; Hamza, Wahiba; Nanetti, Lorenzo; Mariotti, Caterina; Koenig, Michel; Schöls, Ludger; Schüle, Rebecca; Jonghe, Peter de; Anheim, Mathieu; Taroni, Franco und Bauer, Peter
(2016):
SYNE1 ataxia is a common recessive ataxia with major non-cerebellar features: a large multi-centre study.
In: Brain, Bd. 139: S. 1378-1393
Schwenk, Benjamin M.; Hartmann, Hannelore; Serdaroglu, Alperen; Schludi, Martin H.; Hornburg, Daniel; Meissner, Felix; Orozco, Denise; Colombo, Alessio; Tahirovic, Sabina; Michaelsen, Meike; Schreiber, Franziska; Haupt, Simone; Peitz, Michael; Bruestle, Oliver; Küpper, Clemens; Klopstock, Thomas; Otto, Markus; Ludolph, Albert C.; Arzberger, Thomas; Kuhn, Peer-Hendrik und Edbauer, Dieter
(2016):
TDP-43 loss of function inhibits endosomal trafficking and alters trophic signaling in neurons.
In: Embo Journal, Bd. 35, Nr. 21: S. 2350-2370
Schüle, Rebecca; Wiethoff, Sarah; Martus, Peter; Karle, Kathrin N.; Otto, Susanne; Klebe, Stephan; Klimpe, Sven; Gallenmüller, Constanze; Kurzwelly, Delia; Henkel, Dorothea; Rimmele, Florian; Stolze, Henning; Kohl, Zacharias; Kassubek, Jan; Klockgether, Thomas; Vielhaber, Stefan; Kamm, Christoph; Klopstock, Thomas; Bauer, Peter; Züchner, Stephan; Liepelt-Scarfone, Inga und Schöls, Ludger
(2016):
Hereditary spastic paraplegia: Clinicogenetic lessons from 608 patients.
In: Annals of Neurology, Bd. 79, Nr. 4: S. 646-658
Sabrautzki, Sibylle; Sandholzer, Michael A.; Lorenz-Depiereux, Bettina; Brommage, Robert; Przemeck, Gerhard; Panesso, Ingrid L. Vargas; Vernaleken, Alexandra; Garrett, Lillian; Baron, Katharina; Yildirim, Ali O.; Rozman, Jan; Rathkolb, Birgit; Gau, Christine; Hans, Wolfgang; Hoelter, Sabine M.; Marschall, Susan; Stoeger, Claudia; Becker, Lore; Fuchs, Helmut; Gailus-Durner, Valerie; Klingenspor, Martin; Klopstock, Thomas; Lengger, Christoph; Stefanie, Leuchtenberger; Wolf, Eckhard; Strom, Tim M.; Wurst, Wolfgang und Hrabě de Angelis, Martin
(2016):
Viable Ednra (Y129F) mice feature human mandibulofacial dysostosis with alopecia (MFDA) syndrome due to the homologue mutation.
In: Mammalian Genome, Bd. 27, Nr. 11-12: S. 587-598
Koene, Saskia; Hendriks, Jan C. M.; Dirks, Ilse; Boer, Lonneke de; Vries, Maaike C.; Janssen, Mirian C. H. de; Smuts, Izelle; Fung, Cheuk-Wing; Wong, Virginia C. N.; Coo, I. Rene F. M.; de Vill, Katharina; Stendel, Claudia; Klopstock, Thomas; Falk, Marni J.; McCormick, Elizabeth M.; McFarland, Robert; Groot, Imelda J. M. de und Smeitink, Jan A. M.
(2016):
International Paediatric Mitochondrial Disease Scale.
In: Journal of inherited Metabolic Disease, Bd. 39, Nr. 5: S. 705-712
Bender, Andreas und Klopstock, Thomas
(2016):
Creatine for neuroprotection in neurodegenerative disease: end of story?
In: Amino Acids, Bd. 48, Nr. 8: S. 1929-1940
Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger und Klopstock, Thomas
(2015):
Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement.
In: Annals of Clinical and Translational Neurology, Bd. 2, Nr. 5: S. 492-509
D'Adamo, Maria Cristina; Gallenmüller, Constanze; Servettini, Ilenio; Hartl, Elisabeth; Tucker, Stephen J.; Arning, Larissa; Biskup, Saskia; Grottesi, Alessandro; Guglielmi, Luca; Imbrici, Paola; Bernasconi, Pia; Di Giovanni, Giuseppe; Franciolini, Fabio; Catacuzzeno, Luigi; Pessia, Mauro und Klopstock, Thomas
(2015):
Novel phenotype associated with a mutation in the KCNA1(Kv1.1) gene.
In: Frontiers in Physiology, Bd. 5, 525
[PDF, 5MB]
Obayashi, Masato; Stevanin, Giovanni; Synofzik, Matthis; Monin, Marie-Lorraine; Duyckaerts, Charles; Sato, Nozomu; Streichenberger, Nathalie; Vighetto, Alain; Desestret, Virginie; Tesson, Christelle; Wichmann, Heinz-Erich; Illig, Thomas; Huttenlocher, Johanna; Kita, Yasushi; Izumi, Yuishin; Mizusawa, Hidehiro; Schoels, Ludger; Klopstock, Thomas; Brice, Alexis; Ishikawa, Kinya und Dürr, Alexandra
(2015):
Spinocerebellar ataxia type 36 exists in diverse populations and can be caused by a short hexanucleotide GGCCTG repeat expansion.
In: Journal if neurology, neurosurgery and psychiatry, Bd. 86, Nr. 9: S. 986-995
[PDF, 704kB]
Dimitriadis, Konstantin; Leonhardt, Miriam; Yu-Wai-Man, Patrick; Kirkman, Matthew Anthony; Korsten, Alex; De Coo, Irenaeus F.; Chinnery, Patrick Francis und Klopstock, Thomas
(2014):
Leber's hereditary optic neuropathy with late disease onset: clinical and molecular characteristics of 20 patients.
In: Orphanet Journal of Rare Diseases
9:158
[PDF, 200kB]
Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W. und Prokisch, Holger
(2014):
Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients.
In: Orphanet Journal of Rare Diseases
9:119
[PDF, 2MB]
Becker, Lore; Kling, Eva; Schiller, Evelyn; Zeh, Ramona; Schrewe, Anja; Hölter, Sabine M.; Mossbrugger, Ilona; Calzada-Wack, Julia; Strecker, Valentina; Wittig, Ilka; Dumitru, Iulia; Wenz, Tina; Bender, Andreas; Aichler, Michaela; Janik, Dirk; Neff, Frauke; Walch, Axel; Quintanilla-Fend, Leticia; Floss, Thomas; Bekeredjian, Raffi; Gailus-Durner, Valerie; Fuchs, Helmut; Wurst, Wolfgang; Meitinger, Thomas; Prokisch, Holger; Hrabé de Angelis, Martin und Klopstock, Thomas
(2014):
MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy.
In: PLOS ONE 9(12), e114918 [PDF, 1MB]
In: PLOS ONE 9(12), e114918 [PDF, 1MB]
Kraus, Petra; Sivakamasundari, V; Yu, Hong Bing; Xing, Xing; Lim, Siew Lan; Adler, Thure; Pimentel, Juan Antonio Aguilar; Becker, Lore; Bohla, Alexander; Garrett, Lillian; Hans, Wolfgang; Hölter, Sabine M.; Janas, Eva; Moreth, Kristin; Prehn, Cornelia; Puk, Oliver; Rathkolb, Birgit; Rozman, Jan; Adamski, Jerzy; Bekeredjian, Raffi; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Neff, Frauke; Ollert, Markus; Stoeger, Tobias; Yildrim, Ali Önder; Eickelberg, Oliver; Wolf, Eckhard; Wurst, Wolfgang; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabě de Angelis, Martin; Lufkin, Thomas und Stanton, Lawrence W.
(2014):
Pleiotropic Functions for Transcription Factor Zscan10.
In: PLOS ONE 9(8), e104568 [PDF, 3MB]
In: PLOS ONE 9(8), e104568 [PDF, 3MB]
Kemter, Elisabeth; Rathkolb, Birgit; Becker, Lore; Bolle, Ines; Busch, Dirk H.; Dalke, Claudia; Elvert, Ralf; Favor, Jack; Graw, Jochen; Hans, Wolfgang; Ivandic, Boris; Kalaydjiev, Svetoslav; Klopstock, Thomas; Rácz, Ildikó; Rozman, Jan; Schrewe, Anja; Schulz, Holger; Zimmer, Andreas; Fuchs, Helmut; Gailus-Durner, Valérie; Hrabé de Angelis, Martin; Wolf, Eckhard und Aigner, Bernhard
(2014):
Standardized, systemic phenotypic analysis of Slc12a(1299F) mutant mice.
In: Journal of Biomedical Science
21:68
[PDF, 493kB]
Zumbrennen-Bullough, Kimberly B.; Becker, Lore; Garrett, Lillian; Hölter, Sabine M.; Calzada-Wack, Julia; Mossbrugger, Ilona; Quintanilla-Fend, Leticia; Racz, Ildiko; Rathkolb, Birgit; Klopstock, Thomas; Wurst, Wolfgang; Zimmer, Andreas; Wolf, Eckhard; Fuchs, Helmut; Gailus-Durner, Valerie; Hrabé de Angelis, Martin; Romney, Steven J. und Leibold, Elizabeth A.
(2014):
Abnormal Brain Iron Metabolism in Irp2 Deficient Mice Is Associated with Mild Neurological and Behavioral Impairments.
In: PLOS ONE 9(6), e98072 [PDF, 5MB]
In: PLOS ONE 9(6), e98072 [PDF, 5MB]
Bender, Andreas; Desplats, Paula; Spencer, Brian; Rockenstein, Edward; Adame, Anthony; Elstner, Matthias; Laub, Christoph; Mueller, Sarina; Koob, Andrew O.; Mante, Michael; Pham, Emily; Klopstock, Thomas und Masliah, Eliezer
(2013):
TOM40 Mediates Mitochondrial Dysfunction Induced by α-Synuclein Accumulation in Parkinson's Disease.
In: PLOS ONE 8(4), e62277 [PDF, 2MB]
In: PLOS ONE 8(4), e62277 [PDF, 2MB]
Hartig, Monika B.; Prokisch, Holger; Meitinger, Thomas und Klopstock, Thomas
(1. August 2012):
Pantothenate kinase-associated neurodegeneration.
In: Current drug targets, Bd. 13, Nr. 9: S. 1182-1189
[PDF, 853kB]
Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas und Prokisch, Holger
(April 2012):
Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing.
In: Journal of medical genetics, Bd. 49, Nr. 4: S. 277-283
[PDF, 372kB]
Olszewski, Pawel K.; Rozman, Jan; Jacobsson, Josefin A.; Rathkolb, Birgit; Stromberg, Siv; Hans, Wolfgang; Klockars, Anica; Alsio, Johan; Riserus, Ulf; Becker, Lore; Hoelter, Sabine M.; Elvert, Ralf; Ehrhardt, Nicole; Gailus-Durner, Valerie; Fuchs, Helmut; Fredriksson, Robert; Wolf, Eckhard; Klopstock, Thomas; Wurst, Wolfgang; Levine, Allen S.; Marcus, Claude; Hrabé de Angelis, Martin; Klingenspor, Martin; Schiöth, Helgi B. und Kilimann, Manfred W.
(März 2012):
Neurobeachin, a Regulator of Synaptic Protein Targeting, Is Associated with Body Fat Mass and Feeding Behavior in Mice and Body-Mass Index in Humans.
In: PLOS Genetics 8(3), e1002568. [PDF, 644kB]
In: PLOS Genetics 8(3), e1002568. [PDF, 644kB]
Genius, Just; Geiger, Johanna; Bender, Andreas; Möller, Hans-Jürgen; Klopstock, Thomas und Rujescu, Dan
(2012):
Creatine protects against excitoxicity in an in vitro model of neurodegeneration.
In: PLOS ONE 7(2), e30554 [PDF, 509kB]
In: PLOS ONE 7(2), e30554 [PDF, 509kB]
Staropoli, John F.; Haliw, Larissa; Biswas, Sunita; Garrett, Lillian; Hölter, Sabine M.; Becker, Lore; Skosyrski, Sergej; Silva-Buttkus, Patricia da; Calzada-Wack, Julia; Neff, Frauke; Rathkolb, Birgit; Rozman, Jan; Schrewe, Anja; Adler, Thure; Puk, Oliver; Sun, Minxuan; Favor, Jack; Racz, Ildikó; Bekeredjian, Raffi; Busch, Dirk H.; Graw, Jochen; Klingenspor, Martin; Klopstock, Thomas; Wolf, Eckhard; Wurst, Wolfgang; Zimmer, Andreas; Lopez, Edith; Harati, Hayat; Hill, Eric; Krause, Daniela S.; Guide, Jolene; Dragileva, Ella; Gale, Evan; Wheeler, Vanessa C.; Boustany, Rose-Mary; Brown, Diane E.; Breton, Sylvie; Ruether, Klaus; Gailus-Durner, Valérie; Fuchs, Helmut; Hrabé de Angelis, Martin und Cotman, Susan L.
(2012):
Large-scale phenotyping of an accurate genetic mouse model of JNCL identifies novel early pathology outside the central nervous system.
In: PLOS ONE 7(6), e38310 [PDF, 4MB]
In: PLOS ONE 7(6), e38310 [PDF, 4MB]
Kalman, Bernadette; Lautenschlaeger, Ronald; Kohlmayer, Florian; Buechner, Boriana; Kmiec, Thomas; Klopstock, Thomas und Kuhn, Klaus A.
(2012):
An international registry for neurodegeneration with brain iron accumulation.
In: Orphanet Journal of Rare Diseases
7:66
[PDF, 154kB]
Elstner, Matthias; Mueller, Sarina K.; Leidolt, Lars; Laub, Christoph; Krieg, Lena; Schlaudraff, Falk; Liss, Birgit; Morris, Chris; Turnbull, Douglass M.; Masliah, Eliezer; Prokisch, Holger; Klopstock, Thomas und Bender, Andreas
(2011):
Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions.
In: Molecular Brain
4:43
[PDF, 5MB]
Kleinschnitz, Christoph; Grund, Henrike; Wingler, Kirstin; Armitage, Melanie E.; Jones, Emma; Mittal, Manish; Barit, David; Schwarz, Tobias; Geis, Christian; Kraft, Peter; Barthel, Konstanze; Schuhmann, Michael K.; Herrmann, Alexander M.; Meuth, Sven G.; Stoll, Guido; Meurer, Sabine; Schrewe, Anja; Becker, Lore; Gailus-Durner, Valérie; Fuchs, Helmut; Klopstock, Thomas; Hrabé de Angelis, Martin; Jandeleit-Dahm, Karin; Shah, Ajay M.; Weissmann, Norbert und Schmidt, Harald H. H. W.
(2010):
Post-stroke inhibition of induced NADPH oxidase type 4 prevents oxidative stress and neurodegeneration.
In: PLOS Biology 8(9), e1000479 [PDF, 3MB]
In: PLOS Biology 8(9), e1000479 [PDF, 3MB]
Scharfe, Curt; Lu, Henry Horng-Shing; Neuenburg, Jutta K.; Allen, Edward A.; Li, Guan-Cheng; Klopstock, Thomas; Cowan, Tina M.; Enns, Gregory M. und Davis, Ronald W.
(April 2009):
Mapping gene associations in human mitochondria using clinical disease phenotypes.
In: PLOS Computational Biology 5(4), e1000374 [PDF, 846kB]
In: PLOS Computational Biology 5(4), e1000374 [PDF, 846kB]
Schüle, R.; Kremer, B.P.H.; Kassubek, J.; Auer-Grumbach, M.; Kostic, V.; Klopstock, Thomas; Klimpe, S.; Otto, S.; Boesch, S.; van de Warrenburg, B.P. und Schöls, L.
(2008):
SPG10 is a rare cause of spastic paraplegia in European families.
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 79, Nr. 5: S. 584-587
[PDF, 336kB]
Soeker, Torben; Dalke, Claudia; Puk, Oliver; Floss, Thomas; Becker, Lore; Bolle, Ines; Favor, Jack; Hans, Wolfgang; Hoelter, Sabine M.; Horsch, Marion; Kallnik, Magdalena; Kling, Eva; Moerth, Corinna; Schrewe, Anja; Stigloher, Christian; Topp, Stefanie; Gailus-Durner, Valerie; Naton, Beatrix; Beckers, Johannes; Fuchs, Helmut; Ivandic, Boris; Klopstock, Thomas; Schulz, Holger; Wolf, Eckhard; Wurst, Wolfgang; Bally-Cuif, Laure; de Angelis, Martin Hrabe und Graw, Jochen
(2008):
Pleiotropic effects in Eya3 knockout mice.
In: BMC Developmental Biology
8:118
[PDF, 3MB]
Feddersen, Berend; Linn, Jennifer und Klopstock, Thomas
(2007):
Puppy sign'' indicating bilateral dissection of internal carotid artery.
In: Journal of Neurology Neurosurgery and Psychiatry, Bd. 78: S. 1055
[PDF, 140kB]
Horváth, R.; Klopstock, Thomas; Jaksch, M.; Holinski-Feder, E.; Abicht, Angela; Lochmüller, Hans; Laner, A.; Gempel, K. und Prokisch, H.
(2006):
Leigh syndrome caused by mutations in the flavoprotein (Fp) subunit of succinate dehydrogenase (SDHA).
In: Journal of Neurology, Neurosurgery & Psychiatry, Bd. 77, Nr. 1: S. 74-76
[PDF, 78kB]
Klopstock, Thomas; Naumann, M.; Schalke, B.; Bischof, F.; Seibel, P.; Kottlors, M.; Eckert, P.; Reiners, K.; Toyka, K. und Reichmann, Heinz
(1994):
Multiple symmetric lipomatosis. Abnormalities in complex IV and multiple deletions in mitochondrial DNA.
In: Neurology, Bd. 44: S. 862-866
[PDF, 1MB]
Seibel, P.; Lauber, J.; Klopstock, Thomas; Marsac, C.; Kadenbach, B. und Reichmann, Heinz
(1994):
Chronic Progressive External Ophthalmoplegia Is Associated with a Novel Mutation in the Mitochondrial tRNA(Asn) Gene.
In: Biochemical and Biophysical Research Communications, Bd. 204: S. 482-489
[PDF, 5MB]
Reichmann, Heinz; Gold, R.; Meurers, B.; Naumann, M.; Seibel, P.; Walter, U. und Klopstock, Thomas
(1993):
Progression of myopathology in Kearns-Sayre syndrome. A morphological follow-up study.
In: Acta Neuropathologica, Bd. 85, Nr. 6: S. 679-681
[PDF, 1MB]
Reichmann, Heinz; Klopstock, Thomas; Naumann, M.; Gold, R.; Janetzky, B.; Beck, A.; Maas, J.; Damian, M. S. und Seibel, P.
(1993):
Mitochondriopathien. Eine Sonderform der Ophthalmoparesen.
In: Verhandlungen der Deutschen Gesellschaft für Neurologie, Bd. 7: S. 244-248
[PDF, 2MB]
Seibel, P.; Schneider, C.; Lindner, A.; Klopstock, Thomas; Janetzky, B.; Trappe, J.; Toyka, K. und Reichmann, Heinz
(1993):
Leber´s hereditary optic neuroretinopathy. A mitochondrial disease.
In: Verhandlungen der Deutschen Gesellschaft für Neurologie, Bd. 7: S. 261-263
[PDF, 2MB]
Lötscher, Erika; Zimmer, Franz-Josef; Klopstock, Thomas; Grzeschik, Karl-Heinz; Jaenichen, Rita; Straubinger, Bernhard und Zachau, Hans G.
(1988):
Localization, analysis and evolution of transposed human immunoglobulin VK genes.
In: Gene, Bd. 69, Nr. 2: S. 215-223
[PDF, 475kB]