A. Dürr

Spastic Paraplegia and OXPHOS Impairment Caused by Mutations in Paraplegin, a Nuclear-Encoded Mitochondrial Metalloprotease

Giorgio Casari, Maurizio De Fusco, Sonia Ciarmatori et al. · Cell · 1998 · 824 citations · Full text

Mitochondrial Function, Oxphos Impairment, Genetics +10

Chromosomal assignment of the second locus for autosomal dominant cerebellar ataxia (SCA2) to chromosome 12q23–24.1

Suzana Gispert, Rebecca C.J. Twells, Guillermo Hernández Orozco et al. · Nature Genetics · 1993 · 288 citations

Chromatin, Chromosomal Assignment, Genetic Disorder +7

Are interrupted <i>SCA2</i> CAG repeat expansions responsible for parkinsonism?

Perrine Charles, A. Camuzat, N. Benammar et al. · Neurology · 2007 · 164 citations

CYP7B1 mutations in pure and complex forms of hereditary spastic paraplegia type 5

Cyril Goizet, A. Boukhris, A. Dürr et al. · Brain · 2009 · 109 citations

De Novo Expansion of Intermediate Alleles in Spinocerebellar Ataxia 7

Giovanni Stévanin, Paola Giunti, Gilles David et al. · Human Molecular Genetics · 1998 · 100 citations · Full text