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Anzahl der Publikationen: 19
Zeitschriftenartikel
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
Krismer, Florian; Palma, Jose-Alberto; Calandra-Buonaura, Giovanna; Stankovic, Iva; Vignatelli, Luca; Berger, Anna-Karin; Falup-Pecurariu, Cristian; Foubert-Samier, Alexandra; Höglinger, Günter; Kaufmann, Horacio; Kellerman, Larry; Kim, Han-Joon; Klockgether, Thomas; Levin, Johannes; Martinez-Martin, Pablo; Mestre, Tiago A.; Pellecchia, Maria Teresa; Perlman, Susan; Qureshi, Irfan; Rascol, Olivier; Schrag, Anette; Seppi, Klaus; Shang, Huifang; Stebbins, Glenn T.; Wenning, Gregor K.; Singer, Wolfgang und Meissner, Wassilios G.
(2022):
The Unified Multiple System Atrophy Rating Scale: Status, Critique, and Recommendations.
In: Movement Disorders, Bd. 37, Nr. 12: S. 2336-2341
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
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]
Traschutz, Andreas; Cortese, Andrea; Reich, Selina; Dominik, Natalia; Faber, Jennifer; Jacobi, Heike; Hartmann, Annette M.; Rujescu, Dan; Montaut, Solveig; Echaniz-Laguna, Andoni; Erer, Sevda; Schutz, Valerie Cornelia; Tarnutzer, Alexander A.; Sturm, Marc; Haack, Tobias B.; Vaucamps-Diedhiou, Nadege; Puccio, Helene; Schols, Ludger; Klockgether, Thomas; Warrenburg, Bart P. van de; Paucar, Martin; Timmann, Dagmar; Hilgers, Ralf-Dieter; Gazulla, Jose; Strupp, Michael; Moris, German; Filla, Alessandro; Houlden, Henry; Anheim, Mathieu; Infante, Jon; Basak, A. Nazli und Synofzik, Matthis
(2021):
Natural History, Phenotypic Spectrum, and Discriminative Features of Multisystemic RFC1 Disease.
In: Neurology, Bd. 96, Nr. 9, E1369-E1382
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]
Piot, Ines; Schweyer, Kerstin; Respondek, Gesine; Stamelou, Maria; Gasser, Thomas; Hermann, Andreas; Höglinger, Gunter; Hoellerhage, Matthias; Kimmich, Okka; Klockgether, Thomas; Levin, Johannes; Machetanz, Gerrit; Osterrath, Antje; Palleis, Carla; Prudlo, Johannes; Spottke, Annika; Berg, Daniela; Buerk, Katrin; Classen, Joseph; Eggers, Carsten; Greuel, Andrea; Grimm, Max-Joseph; Hermann, Lennard; Iankova, Vassilena; Jahn, Klaus; Jost, Wolfgang; Klietz, Martin; Kuehn, Andrea; Marxreiter, Franz; Paschen, Steffen; Poetter-Nerger, Monika; Preisl, Marie-Therese; Prilop, Lisa; Toenges, Lars; Trenkwalder, Claudia; Warnecke, Tobias; Wegner, Florian; Winkler, Jürgen; Antonini, Angelo; Bhatia, Kailash P.; Boxer, Adam L.; Colosimo, Carlo; Compta, Yaroslau; Corvol, Jean-Christophe; Golbe, Lawrence I.; Hoglinger, Guenter U.; Lang, Anthony E.; Litvan, Irene; Morris, Huw R.; Nilsson, Christer; Pantelyat, Alexander; Respondek, Gesine; Stamelou, Maria; Sckopke, Philipp; Schenk, Thomas; Goetz, Christopher G. und Stebbins, Glenn T.
(2020):
The Progressive Supranuclear Palsy Clinical Deficits Scale.
In: Movement Disorders, Bd. 35, Nr. 4: S. 650-661
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
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
Stankovic, Iva; Quinn, Niall; Vignatelli, Luca; Antonini, Angelo; Berg, Daniela; Coon, Elizabeth; Cortelli, Pietro; Fanciulli, Alessandra; Ferreira, Joaquim J.; Freeman, Roy; Halliday, Glenda; Hoglinger, Gunter U.; Iodice, Valeria; Kaufmann, Horacio; Klockgether, Thomas; Kostic, Vladimir; Krismer, Florian; Lang, Anthony; Levin, Johannes; Low, Phillip; Mathias, Christopher; Meissner, Wassillios G.; Kaufmann, Lucy Norcliffe; Palma, Jose-Alberto; Panicker, Jalesh N.; Pellecchia, Maria Teresa; Sakakibara, Ryuji; Schmahmann, Jeremy; Scholz, Sonja W.; Singer, Wolfgang; Stamelou, Maria; Tolosa, Eduardo; Tsuji, Shoji; Seppi, Klaus; Poewe, Werner und Wenning, Gregor K.
(2019):
A critique of the second consensus criteria for multiple system atrophy.
In: Movement Disorders, Bd. 34, Nr. 7: S. 975-984
Cook, Arron; Boesch, Sylvia; Heck, Suzette; Brunt, Ewout; Klockgether, Thomas; Schoels, Ludger; Schulz, Angela und Giunti, Paola
(2019):
Patient-reported outcomes in Friedreich's ataxia after withdrawal from idebenone.
In: Acta Neurologica Scandinavica, Bd. 139, Nr. 6: S. 533-539
Hopfner, Franziska; Müller, Stefanie H.; Steppat, Dagmar; Miller, Joanna; Schmidt, Nele; Wandinger, Klaus-Peter; Leypoldt, Frank; Berg, Daniela; Franke, Andre; Lieb, Wolfgang; Tittmann, Lukas; Balzer-Geldsetzer, Monika; Baudrexel, Simon; Dodel, Richard; Hilker-Roggendorf, Rüdiger; Kalbe, Elke; Kassubek, Jan; Klockgether, Thomas; Liepelt-Scarfone, Inga; Mollenhauer, Brit; Neuser, Petra; Reetz, Kathrin; Riedel, Oliver; Schulte, Claudia; Schulz, Jörg B.; Spottke, Annika; Storch, Alexander; Trenkwalder, Claudia; Wittchen, Hans-Ulrich; Witt, Karsten; Wuellner, Ullrich; Deuschl, Gunther und Kuhlenbaeumer, Gregor
(2019):
No association between Parkinson disease and autoantibodies against NMDA-type glutamate receptors.
In: Translational Neurodegeneration, Bd. 8, 11
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
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]
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
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]
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
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