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Anzahl der Publikationen: 30
Zeitschriftenartikel
Katzdobler, Sabrina 
ORCID: https://orcid.org/0000-0002-3512-5984; Nübling, Georg; Klietz, Martin; Fietzek, Urban M.; Palleis, Carla ORCID: https://orcid.org/0000-0002-4331-8145; Bernhardt, Alexander M. ORCID: https://orcid.org/0000-0002-2572-5062; Wegner, Florian ORCID: https://orcid.org/0000-0002-9931-2666; Huber, Meret; Rogozinski, Sophia; Schneider, Luisa-Sophie; Spruth, Eike Jakob; Beyle, Aline; Vogt, Ina R.; Brandt, Moritz; Hansen, Niels; Glanz, Wenzel ORCID: https://orcid.org/0000-0002-5865-4176; Brockmann, Kathrin ORCID: https://orcid.org/0000-0002-7515-8596; Spottke, Annika; Hoffmann, Daniel C.; Peters, Oliver; Priller, Josef ORCID: https://orcid.org/0000-0001-7596-0979; Wiltfang, Jens ORCID: https://orcid.org/0000-0003-1492-5330; Düzel, Emrah ORCID: https://orcid.org/0000-0002-0139-5388; Schneider, Anja ORCID: https://orcid.org/0000-0001-9540-8700; Falkenburger, Björn; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Gasser, Thomas ORCID: https://orcid.org/0000-0002-1069-1146; Nuscher, Brigitte ORCID: https://orcid.org/0009-0000-4661-0742; Haass, Christian ORCID: https://orcid.org/0000-0002-4869-1627; Höglinger, Günter ORCID: https://orcid.org/0000-0001-7587-6187 und Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306
(2024):
GFAP and NfL as fluid biomarkers for clinical disease severity and disease progression in multiple system atrophy (MSA).
In: Journal of Neurology, Bd. 271: S. 6991-6999
[PDF, 1MB]
ORCID: https://orcid.org/0000-0002-3512-5984; Nübling, Georg; Klietz, Martin; Fietzek, Urban M.; Palleis, Carla ORCID: https://orcid.org/0000-0002-4331-8145; Bernhardt, Alexander M. ORCID: https://orcid.org/0000-0002-2572-5062; Wegner, Florian ORCID: https://orcid.org/0000-0002-9931-2666; Huber, Meret; Rogozinski, Sophia; Schneider, Luisa-Sophie; Spruth, Eike Jakob; Beyle, Aline; Vogt, Ina R.; Brandt, Moritz; Hansen, Niels; Glanz, Wenzel ORCID: https://orcid.org/0000-0002-5865-4176; Brockmann, Kathrin ORCID: https://orcid.org/0000-0002-7515-8596; Spottke, Annika; Hoffmann, Daniel C.; Peters, Oliver; Priller, Josef ORCID: https://orcid.org/0000-0001-7596-0979; Wiltfang, Jens ORCID: https://orcid.org/0000-0003-1492-5330; Düzel, Emrah ORCID: https://orcid.org/0000-0002-0139-5388; Schneider, Anja ORCID: https://orcid.org/0000-0001-9540-8700; Falkenburger, Björn; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Gasser, Thomas ORCID: https://orcid.org/0000-0002-1069-1146; Nuscher, Brigitte ORCID: https://orcid.org/0009-0000-4661-0742; Haass, Christian ORCID: https://orcid.org/0000-0002-4869-1627; Höglinger, Günter ORCID: https://orcid.org/0000-0001-7587-6187 und Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306
(2024):
GFAP and NfL as fluid biomarkers for clinical disease severity and disease progression in multiple system atrophy (MSA).
In: Journal of Neurology, Bd. 271: S. 6991-6999
[PDF, 1MB]
Schoenmakers, Daphne H.; Berg, Sibren van den; Timmers, Lonneke; Adang, Laura A. ORCID: https://orcid.org/0000-0002-8454-1116; Bäumer, Tobias; Bosch, Annet ORCID: https://orcid.org/0000-0001-5027-5916; Casteele, Marc van de; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariëtte H.E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Hout, Hannerieke van den ORCID: https://orcid.org/0000-0001-5150-0767; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Knaap, Marjo S. van der; Papadopoulou, Andri; Plueschke, Kelly; Rijn, Sanne van; Rosenberg, Noah A.; Saunier-Vivar, Elise F.; Santos Vieira, Bruna dos; Hollak, Carla E.M.; Goettsch, Wim G. und Wolf, Nicole I. ORCID: https://orcid.org/0000-0003-1721-0728
(2024):
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases.
In: Neurology, Bd. 103, Nr. 6, e209743
[PDF, 593kB]
ORCID: https://orcid.org/0000-0002-8454-1116; Bäumer, Tobias; Bosch, Annet ORCID: https://orcid.org/0000-0001-5027-5916; Casteele, Marc van de; Datema, Mareen R.; Dekker, Hanka; Donnelly, Conan; Driessens, Mariëtte H.E.; Graessner, Holm; Greger, Valerie; Haddad, Tala; Höglinger, Günter U. ORCID: https://orcid.org/0000-0001-7587-6187; Hout, Hannerieke van den ORCID: https://orcid.org/0000-0001-5150-0767; Jonker, Carla; Langeveld, Mirjam; Lambert, Laurie J.; Neacy, Eileen; Nieuwland, Marc; Klockgether, Thomas ORCID: https://orcid.org/0000-0001-6174-5442; Knaap, Marjo S. van der; Papadopoulou, Andri; Plueschke, Kelly; Rijn, Sanne van; Rosenberg, Noah A.; Saunier-Vivar, Elise F.; Santos Vieira, Bruna dos; Hollak, Carla E.M.; Goettsch, Wim G. und Wolf, Nicole I. ORCID: https://orcid.org/0000-0003-1721-0728
(2024):
Framework for Multistakeholder Patient Registries in the Field of Rare Diseases.
In: Neurology, Bd. 103, Nr. 6, e209743
[PDF, 593kB]
Chatterjee, Madhurima; Özdemir, Selcuk; Fritz, Christian; Möbius, Wiebke ORCID: https://orcid.org/0000-0002-2902-7165; Kleineidam, Luca; Mandelkow, Eckhard ORCID: https://orcid.org/0000-0003-4655-4829; Biernat, Jacek; Doğdu, Cem; Peters, Oliver; Cosma, Nicoleta Carmen ORCID: https://orcid.org/0000-0002-2656-8046; Wang, Xiao; Schneider, Luisa-Sophia; Priller, Josef ORCID: https://orcid.org/0000-0001-7596-0979; Spruth, Eike; Kühn, Andrea A. ORCID: https://orcid.org/0000-0002-4134-9060; Krause, Patricia; Klockgether, Thomas; Vogt, Ina R.; Kimmich, Okka; Spottke, Annika; Hoffmann, Daniel C.; Fliessbach, Klaus; Miklitz, Carolin; McCormick, Cornelia; Weydt, Patrick; Falkenburger, Björn; Brandt, Moritz; Guenther, René; Dinter, Elisabeth; Wiltfang, Jens; Hansen, Niels; Bähr, Mathias; Zerr, Inga; Flöel, Agnes; Nestor, Peter J.; Düzel, Emrah; Glanz, Wenzel; Incesoy, Enise; Bürger, Katharina; Janowitz, Daniel; Perneczky, Robert ORCID: https://orcid.org/0000-0003-1981-7435; Rauchmann, Boris S.; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281; Wagemann, Olivia; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Teipel, Stefan; Kilimann, Ingo; Goerss, Doreen; Prudlo, Johannes; Gasser, Thomas; Brockmann, Kathrin ORCID: https://orcid.org/0000-0002-7515-8596; Mengel, David; Zimmermann, Milan; Synofzik, Matthis; Wilke, Carlo; Selma-González, Judit; Turon-Sans, Janina; Santos-Santos, Miguel Angel; Alcolea, Daniel ORCID: https://orcid.org/0000-0002-3819-3245; Rubio-Guerra, Sara ORCID: https://orcid.org/0000-0001-7652-8029; Fortea, Juan ORCID: https://orcid.org/0000-0002-1340-638X; Carbayo, Álvaro ORCID: https://orcid.org/0000-0001-9282-8603; Lleó, Alberto ORCID: https://orcid.org/0000-0002-2568-5478; Rojas-García, Ricardo; Illán-Gala, Ignacio; Wagner, Michael; Frommann, Ingo ORCID: https://orcid.org/0000-0002-7244-2014; Roeske, Sandra ORCID: https://orcid.org/0000-0002-8262-4356; Bertram, Lucas ORCID: https://orcid.org/0009-0005-3594-6925; Heneka, Michael T. ORCID: https://orcid.org/0000-0003-4996-1630; Brosseron, Frederic; Ramirez, Alfredo ORCID: https://orcid.org/0000-0003-4991-763X; Schmid, Matthias; Beschorner, Rudi ORCID: https://orcid.org/0000-0003-1109-915X; Halle, Annett; Herms, Jochen; Neumann, Manuela; Barthélemy, Nicolas R.; Bateman, Randall J. ORCID: https://orcid.org/0000-0002-7729-1702; Rizzu, Patrizia; Heutink, Peter; Dols-Icardo, Oriol ORCID: https://orcid.org/0000-0003-2656-8748; Höglinger, Günter ORCID: https://orcid.org/0000-0001-7587-6187; Hermann, Andreas ORCID: https://orcid.org/0000-0002-7364-7791 und Schneider, Anja ORCID: https://orcid.org/0000-0001-9540-8700
(2024):
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
In: Nature Medicine, Bd. 30, Nr. 6: S. 1771-1783
[PDF, 12MB]
ORCID: https://orcid.org/0000-0002-2902-7165; Kleineidam, Luca; Mandelkow, Eckhard ORCID: https://orcid.org/0000-0003-4655-4829; Biernat, Jacek; Doğdu, Cem; Peters, Oliver; Cosma, Nicoleta Carmen ORCID: https://orcid.org/0000-0002-2656-8046; Wang, Xiao; Schneider, Luisa-Sophia; Priller, Josef ORCID: https://orcid.org/0000-0001-7596-0979; Spruth, Eike; Kühn, Andrea A. ORCID: https://orcid.org/0000-0002-4134-9060; Krause, Patricia; Klockgether, Thomas; Vogt, Ina R.; Kimmich, Okka; Spottke, Annika; Hoffmann, Daniel C.; Fliessbach, Klaus; Miklitz, Carolin; McCormick, Cornelia; Weydt, Patrick; Falkenburger, Björn; Brandt, Moritz; Guenther, René; Dinter, Elisabeth; Wiltfang, Jens; Hansen, Niels; Bähr, Mathias; Zerr, Inga; Flöel, Agnes; Nestor, Peter J.; Düzel, Emrah; Glanz, Wenzel; Incesoy, Enise; Bürger, Katharina; Janowitz, Daniel; Perneczky, Robert ORCID: https://orcid.org/0000-0003-1981-7435; Rauchmann, Boris S.; Hopfner, Franziska ORCID: https://orcid.org/0000-0001-6524-0281; Wagemann, Olivia; Levin, Johannes ORCID: https://orcid.org/0000-0001-5092-4306; Teipel, Stefan; Kilimann, Ingo; Goerss, Doreen; Prudlo, Johannes; Gasser, Thomas; Brockmann, Kathrin ORCID: https://orcid.org/0000-0002-7515-8596; Mengel, David; Zimmermann, Milan; Synofzik, Matthis; Wilke, Carlo; Selma-González, Judit; Turon-Sans, Janina; Santos-Santos, Miguel Angel; Alcolea, Daniel ORCID: https://orcid.org/0000-0002-3819-3245; Rubio-Guerra, Sara ORCID: https://orcid.org/0000-0001-7652-8029; Fortea, Juan ORCID: https://orcid.org/0000-0002-1340-638X; Carbayo, Álvaro ORCID: https://orcid.org/0000-0001-9282-8603; Lleó, Alberto ORCID: https://orcid.org/0000-0002-2568-5478; Rojas-García, Ricardo; Illán-Gala, Ignacio; Wagner, Michael; Frommann, Ingo ORCID: https://orcid.org/0000-0002-7244-2014; Roeske, Sandra ORCID: https://orcid.org/0000-0002-8262-4356; Bertram, Lucas ORCID: https://orcid.org/0009-0005-3594-6925; Heneka, Michael T. ORCID: https://orcid.org/0000-0003-4996-1630; Brosseron, Frederic; Ramirez, Alfredo ORCID: https://orcid.org/0000-0003-4991-763X; Schmid, Matthias; Beschorner, Rudi ORCID: https://orcid.org/0000-0003-1109-915X; Halle, Annett; Herms, Jochen; Neumann, Manuela; Barthélemy, Nicolas R.; Bateman, Randall J. ORCID: https://orcid.org/0000-0002-7729-1702; Rizzu, Patrizia; Heutink, Peter; Dols-Icardo, Oriol ORCID: https://orcid.org/0000-0003-2656-8748; Höglinger, Günter ORCID: https://orcid.org/0000-0001-7587-6187; Hermann, Andreas ORCID: https://orcid.org/0000-0002-7364-7791 und Schneider, Anja ORCID: https://orcid.org/0000-0001-9540-8700
(2024):
Plasma extracellular vesicle tau and TDP-43 as diagnostic biomarkers in FTD and ALS.
In: Nature Medicine, Bd. 30, Nr. 6: S. 1771-1783
[PDF, 12MB]
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]
Greten, Stephan; Wegner, Florian; Jensen, Ida; Krey, Lea; Rogozinski, Sophia; Fehring, Meret; Heine, Johanne; Doll-Lee, Johanna; Poetter-Nerger, Monika; Zeitzschel, Molly; Hagena, Keno; Pedrosa, David J.; Eggers, Carsten; Buerk, Katrin; Trenkwalder, Claudia; Claus, Inga; Warnecke, Tobias; Suess, Patrick; Winkler, Juergen; Gruber, Doreen; Gandor, Florin; Berg, Daniela; Paschen, Steffen; Classen, Joseph; Pinkhardt, Elmar H.; Kassubek, Jan; Jost, Wolfgang H.; Toenges, Lars; Kuehn, Andrea A.; Schwarz, Johannes; Peters, Oliver; Dashti, Eman; Priller, Josef; Spruth, Eike J.; Krause, Patricia; Spottke, Annika; Schneider, Anja; Beyle, Aline; Kimmich, Okka; Donix, Markus; Haussmann, Robert; Brandt, Moritz; Dinter, Elisabeth; Wiltfang, Jens; Schott, Bjoern H.; Zerr, Inga; Baehr, Mathias; Buerger, Katharina; Janowitz, Daniel; Perneczky, Robert; Rauchmann, Boris-Stephan; Weidinger, Endy; Levin, Johannes; Katzdobler, Sabrina; Duezel, Emrah; Glanz, Wenzel; Teipel, Stefan; Kilimann, Ingo; Prudlo, Johannes; Gasser, Thomas; Brockmann, Kathrin; Hoffmann, Daniel C.; Klockgether, Thomas; Krause, Olaf; Heck, Johannes; Hoeglinger, Guenter U. und Klietz, Martin
(2024):
The comorbidity and co-medication profile of patients with progressive supranuclear palsy.
In: Journal of Neurology, Bd. 271, Nr. 2: S. 782-793
[PDF, 1MB]
Ye, Lan; Greten, Stephan; Wegner, Florian; Doll-Lee, Johanna; Krey, Lea; Heine, Johanne; Gandor, Florin; Vogel, Annemarie; Berger, Luise; Gruber, Doreen; Levin, Johannes; Katzdobler, Sabrina; Peters, Oliver; Dashti, Eman; Priller, Josef; Spruth, Eike Jakob; Kuehn, Andrea A.; Krause, Patricia; Spottke, Annika; Schneider, Anja; Beyle, Aline; Kimmich, Okka; Donix, Markus; Haussmann, Robert; Brandt, Moritz; Dinter, Elisabeth; Wiltfang, Jens; Schott, Bjoern H.; Zerr, Inga; Baehr, Mathias; Buerger, Katharina; Janowitz, Daniel; Perneczky, Robert; Rauchmann, Boris-Stephan; Weidinger, Endy; Duezel, Emrah; Glanz, Wenzel; Teipel, Stefan; Kilimann, Ingo; Wurster, Isabel; Brockmann, Kathrin; Hoffmann, Daniel C.; Klockgether, Thomas; Krause, Olaf; Heck, Johannes; Hoeglinger, Guenter U. und Klietz, Martin
(2024):
The comorbidity profiles and medication issues of patients with multiple system atrophy: a systematic cross-sectional analysis.
In: Journal of Neurology, Bd. 271, Nr. 5: S. 2639-2648
[PDF, 4MB]
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]
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]
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]
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]
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
[PDF, 381kB]
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]
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
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]
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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
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
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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
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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