Klinik und Poliklinik für Neurologie

Forschung

Koch P, Breuer P, Peitz M, Jungverdorben J, Kesavan J, Poppe D, et al. Excitation-induced ataxin-3 aggregation in neurons from patients with Machado-Joseph disease. Nature 2011;480:543-6.

Jacobi H, Reetz K, du Montcel ST, Bauer P, Mariotti C, Nanetti L, et al. Biological and clinical characteristics of individuals at risk for spinocerebellar ataxia types 1, 2, 3, and 6 in the longitudinal RISCA study: analysis of baseline data. Lancet Neurol 2013;12:650-8.

Jacobi H, du Montcel ST, Bauer P, Giunti P, Cook A, Labrum R, et al. Long-term disease progression in spinocerebellar ataxia types 1, 2, 3, and 6: a longitudinal cohort study. Lancet Neurol 2015;14:1101-8.

Reetz K, Dogan I, Hilgers RD, Giunti P, Mariotti C, Durr A, et al. Progression characteristics of the European Friedreich's Ataxia Consortium for Translational Studies (EFACTS): a 2 year cohort study. Lancet Neurol 2016;15:1346-54.

Giordano I, Harmuth F, Jacobi H, Paap B, Vielhaber S, Machts J, et al. Clinical and genetic characteristics of sporadic adult-onset degenerative ataxia. Neurology 2017;89:1043-9.

Diallo A, Jacobi H, Cook A, Labrum R, Durr A, Brice A, et al. Survival in patients with spinocerebellar ataxia types 1, 2, 3, and 6 (EUROSCA): a longitudinal cohort study. Lancet Neurol 2018;17:327-34.

Klockgether T, Mariotti C, Paulson HL. Spinocerebellar ataxia. Nat Rev Dis Primers 2019;5:24.