Publikationen

Ausgewählte Publikationen

Karle KN, Mockel D, Reid E, Schöls L (2012) Axonal transport deficit in a KIF5A( -/- ) mouse model. Neurogenetics. 13:169-179
Synofzik M, Beetz C, Bauer C, Bonin M, Sanchez-Ferrero E, Schmitz-Hübsch T, Wüllner U, Nägele T, Riess O, Schöls L, Bauer P (2011) Spinocerebellar ataxia type 15: diagnostic assessment, frequency, and phenotypic features. J Med Genet 48: 407-12.
Synofzik M, Schicks J, Lindig T, Biskup S, Schmidt T, Hansel J, Lehmann-Horn F, Schöls L (2011) Acetazolamide-responsive exercise-induced episodic ataxia associated with a novel homozygous DARS2 mutation. J Med Genet 48: 713-715
Schüle R, Siddique T, Deng HX, Yang Y, Donkervoort S, Hansson M, Madrid RE, Siddique N, Schöls L, Bjorkhem I (2010) Marked accumulation of 27-hydroxycholesterol in SPG5 patients with hereditary spastic paresis. Journal of Lipid Research 51: 819-823.
Ilg W, Synofzik M, Brotz D, Burkard S, Giese MA, Schöls L (2009) Intensive coordinative training improves motor performance in degenerative cerebellar disease. Neurology 73:1823-30
Schüle R, Bonin M, Durr A, Forlani S, Sperfeld AD, Klimpe S, Mueller JC, Seibel A, van de Warrenburg BP, Bauer P, Schöls L (2009) Autosomal dominant spastic paraplegia with peripheral neuropathy maps to chr12q23-24. Neurology 72: 1893-1898.
Schöls L, Bauer P, Schmidt T, Schulte T, Riess O (2004) Autosomal dominant cerebellar ataxias: clinical features, genetics, and pathogenesis. Lancet Neurol 3: 291-304