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A."},{"issue":"37","key":"10.1016\/j.bbadis.2006.04.003_bib73","doi-asserted-by":"crossref","first-page":"38626","DOI":"10.1074\/jbc.M406120200","article-title":"Homo-oligomerization of ALS2 through its unique carboxyl-terminal regions is essential for the ALS2-associated Rab5 guanine nucleotide exchange activity and its regulatory function on endosome trafficking","volume":"279","author":"Kunita","year":"2004","journal-title":"J. Biol. Chem."},{"issue":"Pt 18","key":"10.1016\/j.bbadis.2006.04.003_bib74","doi-asserted-by":"crossref","first-page":"3739","DOI":"10.1242\/jcs.00686","article-title":"Microtubule and Rac 1-dependent F-actin in growth cones","volume":"116","author":"Grabham","year":"2003","journal-title":"J. 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Chem."},{"issue":"2","key":"10.1016\/j.bbadis.2006.04.003_bib77","doi-asserted-by":"crossref","first-page":"233","DOI":"10.1093\/hmg\/ddi440","article-title":"Mice deficient in the Rab5 guanine nucleotide exchange factor ALS2\/alsin exhibit age-dependent neurological deficits and altered endosome trafficking","volume":"15","author":"Hadano","year":"2006","journal-title":"Hum. Mol. Genet."},{"issue":"Pt. 8","key":"10.1016\/j.bbadis.2006.04.003_bib78","doi-asserted-by":"crossref","first-page":"1539","DOI":"10.1093\/brain\/122.8.1539","article-title":"Autosomal dominant juvenile amyotrophic lateral sclerosis","volume":"122","author":"Rabin","year":"1999","journal-title":"Brain"},{"issue":"6","key":"10.1016\/j.bbadis.2006.04.003_bib79","doi-asserted-by":"crossref","first-page":"1128","DOI":"10.1086\/421054","article-title":"DNA\/RNA helicase gene mutations in a form of juvenile amyotrophic lateral sclerosis (ALS4)","volume":"74","author":"Chen","year":"2004","journal-title":"Am. J. Hum. 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A."},{"issue":"1","key":"10.1016\/j.bbadis.2006.04.003_bib93","doi-asserted-by":"crossref","first-page":"69","DOI":"10.1111\/j.1469-1809.1966.tb00007.x","article-title":"Familial spastic paraplegia with amyotrophy of the hands","volume":"30","author":"Silver","year":"1966","journal-title":"Ann. Hum. Genet."},{"issue":"1","key":"10.1016\/j.bbadis.2006.04.003_bib94","doi-asserted-by":"crossref","first-page":"209","DOI":"10.1086\/321267","article-title":"The Silver syndrome variant of hereditary spastic paraplegia maps to chromosome 11q12\u2013q14, with evidence for genetic heterogeneity within this subtype","volume":"69","author":"Patel","year":"2001","journal-title":"Am. J. Hum. 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