Hereditary spastic paraplegia caused by mutations in the SPG4 gene

The mutational spectrum of single base-pair substitutions in mRNA splice junctions of human genes: Causes and consequences

Michael Krawczak, Jochen Reiss, D.N. Cooper · Human Genetics · 1992 · 1.4K citations

Life Sciences, Genetics, Molecular Genetics +17

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 · 829 citations · Full text

Life Sciences, Genetics, Neurology +16

Spastin, a new AAA protein, is altered in the most frequent form of autosomal dominant spastic paraplegia

Jamïlé Hazan, Núria Fonknechten, Delphine Mavel et al. · Nature Genetics · 1999 · 633 citations

Medicine, Neurology, Neuroscience +4

X–linked spastic paraplegia (SPG1), MASA syndrome and X–linked hydrocephalus result from mutations in the L1 gene

Monique Jouet, André Rosenthal, Giles Armstrong et al. · Nature Genetics · 1994 · 420 citations

Life Sciences, Molecular Genetics, Neurology +8

X–linked spastic paraplegia and Pelizaeus–Merzbacher disease are allelic disorders at the proteolipid protein locus

Pascale Saugier-Véber, Arnold Münnich, Dominique Bonneau et al. · Nature Genetics · 1994 · 355 citations

Medicine, Neurology, Neuroscience +7