L
Ludger Schöls
Researcher at German Center for Neurodegenerative Diseases
Publications - 46
Citations - 4280
Ludger Schöls is an academic researcher from German Center for Neurodegenerative Diseases. The author has contributed to research in topics: Spinocerebellar ataxia & Ataxia. The author has an hindex of 27, co-authored 46 publications receiving 3482 citations. Previous affiliations of Ludger Schöls include University of Bonn & University of Tübingen.
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Journal ArticleDOI
Scale for the assessment and rating of ataxia: development of a new clinical scale.
T. Schmitz-Hübsch,S. Tezenas du Montcel,Laszlo Baliko,José Berciano,S Boesch,Chantal Depondt,Paola Giunti,C. Globas,Jon Infante,J-S Kang,Berry Kremer,Christian Mariotti,Béla Melegh,Massimo Pandolfo,Maryla Rakowicz,P Ribai,Rafał Rola,Ludger Schöls,Sandra Szymanski,B.P.C. van de Warrenburg,Alexandra Durr,Thomas Klockgether,Roberto Fancellu +22 more
TL;DR: The Scale for the Assessment and Rating of Ataxia is a reliable and valid measure of ataxia, making it an appropriate primary outcome measure for clinical trials.
Journal ArticleDOI
Clinical features, neurogenetics and neuropathology of the polyglutamine spinocerebellar ataxias type 1, 2, 3, 6 and 7.
Udo Rüb,Ludger Schöls,Henry L. Paulson,Georg Auburger,Pawel Kermer,Joanna C. Jen,Kay Seidel,Horst-Werner Korf,Thomas Deller +8 more
TL;DR: The present review summarizes the current knowledge about the polyglutamine ataxias SCA1,SCA2, SCA3, SCa6 and SCA7 and compares their clinical and electrophysiological features, genetic and molecular biological background, as well as their brain pathologies.
Journal ArticleDOI
Spinocerebellar ataxia types 1, 2, 3, and 6 Disease severity and nonataxia symptoms
T. Schmitz-Hübsch,M Coudert,Peter Bauer,Paola Giunti,C. Globas,Laszlo Baliko,Alessandro Filla,Christian Mariotti,Maryla Rakowicz,Perrine Charles,P Ribai,P Ribai,Sandra Szymanski,Jon Infante,B.P.C. van de Warrenburg,Alexandra Durr,Alexandra Durr,Dagmar Timmann,S Boesch,Roberto Fancellu,Rafał Rola,Chantal Depondt,Ludger Schöls,E Zdienicka,J-S Kang,S Döhlinger,Berry Kremer,D A Stephenson,Béla Melegh,Massimo Pandolfo,S. Di Donato,S. Tezenas du Montcel,Thomas Klockgether +32 more
TL;DR: This study suggests that spinocerebellar ataxia (SCA) 1, SCA2, and SCA3 share a number of common biologic properties, whereas SCA6 is distinct in that its phenotype is more determined by age than by disease-related factors.
Journal ArticleDOI
The natural history of spinocerebellar ataxia type 1, 2, 3, and 6: a 2-year follow-up study
Heike Jacobi,Peter Bauer,Paola Giunti,R. Labrum,M.G. Sweeney,P. Charles,A. Durr,Cecila Marelli,C. Globas,C. Linnemann,Ludger Schöls,Maria Rakowicz,Rafał Rola,E. Zdzienicka,T. Schmitz-Hübsch,R. Fancellu,Christian Mariotti,C. Tomasello,Laszlo Baliko,Béla Melegh,Alessandro Filla,Carlo Rinaldi,B.P.C. van de Warrenburg,C.C.P. Verstappen,S. Szymanski,José Berciano,J. Infante,Dagmar Timmann,S. Boesch,S. Hering,Chantal Depondt,Massimo Pandolfo,Jun-Suk Kang,S. Ratzka,Jörg B. Schulz,S. Tezenas du Montcel,Thomas Klockgether +36 more
TL;DR: Larger expanded repeats and earlier age at onset were associated with faster SARA progression in SCA1 and SCA2, and repeat length of the expanded allele had a similar effect on INAS progression.
Journal ArticleDOI
Loss of Function of Glucocerebrosidase GBA2 Is Responsible for Motor Neuron Defects in Hereditary Spastic Paraplegia
Elodie Martin,Rebecca Schüle,Katrien Smets,Agnès Rastetter,Amir Boukhris,José Leal Loureiro,Michael A. Gonzalez,Emeline Mundwiller,Tine Deconinck,Marc Wessner,Ludmila Jornea,Ludmila Jornea,Ludmila Jornea,Andrés Caballero Oteyza,Alexandra Durr,Jean Jacques Martin,Ludger Schöls,Chokri Mhiri,Foudil Lamari,Stephan Züchner,Peter De Jonghe,Edor Kabashi,Edor Kabashi,Edor Kabashi,Alexis Brice,Giovanni Stevanin +25 more
TL;DR: The role of ceramide metabolism in HSP pathology is highlighted, with next-generation sequencing in three independent families finding four different mutations in GBA2 (three truncating variants and one missense variant) found to cosegregate with the disease and were absent in controls.