Novel homozygous ALS2 nonsense mutation (p.Gln715X) in sibs with infantile-onset ascending spastic paralysis: the first cases from northwestern Europe

Recommendations for a nomenclature system for human gene mutations

Stylianos E. Antonarakis · Human Mutation · 1998 · 939 citations · Full text

Life Sciences, Genetics, Molecular Genetics +12

The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosis

Yi Yang, Afif Hentati, Han‐Xiang Deng et al. · Nature Genetics · 2001 · 732 citations

Life Sciences, Genetics, Molecular Genetics +12

A gene encoding a putative GTPase regulator is mutated in familial amyotrophic lateral sclerosis 2

Collette K. Hand, Hitoshi Osuga, Yoshiko Yanagisawa et al. · Nature Genetics · 2001 · 676 citations

Life Sciences, Genetics, Neuroscience +14

PRIMARY LATERAL SCLEROSIS: CLINICAL FEATURES, NEUROPATHOLOGY AND DIAGNOSTIC CRITERIA

C. Elizabeth Pringle, Anna Hudson, David G. Muñoz et al. · Brain · 1992 · 429 citations

Medicine, Neurology, Neuroscience +17

ALS2, a novel guanine nucleotide exchange factor for the small GTPase Rab5, is implicated in endosomal dynamics

Asako Otomo · Human Molecular Genetics · 2003 · 246 citations · Full text

Life Sciences, Neurology, Neuroscience +17