The gene encoding alsin, a protein with three guanine-nucleotide exchange factor domains, is mutated in a form of recessive amyotrophic lateral sclerosisYI YANG; HENTATI, Afif; COLE, Natalie et al.Nature genetics. 2001, Vol 29, Num 2, pp 160-165, issn 1061-4036Article

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Phenotypic features and genetic findings in sacsin-related autosomal recessive ataxia in TunisiaEL EUCH-FAYACHE, Ghada; LALANI, Irfan; AMOURI, Rim et al.Archives of neurology (Chicago). 2003, Vol 60, Num 7, pp 982-988, issn 0003-9942, 7 p.Article