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Anzahl der Publikationen: 20
Zeitschriftenartikel
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]
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]
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-+
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]
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; 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]
Roeben, Benjamin; Bueltmann, Eva; Stendel, Claudia und Synofzik, Matthis
(2022):
Cerebellar Bottom of Fissure Hyperintensities in MT-ATP6-Associated Ataxia.
In: Annals of Neurology, Bd. 91, Nr. 3: S. 438-440
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
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]
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]
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]
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]
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
Bartesaghi, Luca; Wang, Yiqiao; Fontanet, Paula; Wanderoy, Simone; Berger, Finja; Wu, Haohao; Akkuratova, Natalia; Boucanova, Filipa; Medard, Jean-Jacques; Petitpre, Charles; Landy, Mark A.; Zhang, Ming-Dong; Harrer, Philip; Stendel, Claudia; Stucka, Rolf; Dusl, Marina; Kastriti, Maria Eleni; Croci, Laura; Lai, Helen C.; Consalez, Gian Giacomo; Pattyn, Alexandre; Ernfors, Patrik; Senderek, Jan; Adameyko, Igor; Lallemend, Francois; Hadjab, Saida und Chrast, Roman
(2019):
PRDM12 Is Required for Initiation of the Nociceptive Neuron Lineage during Neurogenesis.
In: Cell Reports, Bd. 26, Nr. 13
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
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
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]
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
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
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
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