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16. Distinctive genetic and clinical features of CMT4J: a severe neuropathy caused by mutations in the PI(3,5)P₂ phosphatase FIG4. Nicholson G; Lenk GM; Reddel SW; Grant AE; Towne CF; Ferguson CJ; Simpson E; Scheuerle A; Yasick M; Hoffman S; Blouin R; Brandt C; Coppola G; Biesecker LG; Batish SD; Meisler MH Brain; 2011 Jul; 134(Pt 7):1959-71. PubMed ID: 21705420 [TBL] [Abstract][Full Text] [Related]
17. Yunis-varon syndrome: further delineation of cardiovascular and endocrine outcome. Varghese P; Collins N; Warner G; Leitch J; Ho E; Crock P Am J Med Genet A; 2014 May; 164A(5):1213-7. PubMed ID: 24610892 [TBL] [Abstract][Full Text] [Related]
18. FIG4 variants in central European patients with amyotrophic lateral sclerosis: a whole-exome and targeted sequencing study. Osmanovic A; Rangnau I; Kosfeld A; Abdulla S; Janssen C; Auber B; Raab P; Preller M; Petri S; Weber RG Eur J Hum Genet; 2017 Feb; 25(3):324-331. PubMed ID: 28051077 [TBL] [Abstract][Full Text] [Related]
19. Mutation of FIG4 causes neurodegeneration in the pale tremor mouse and patients with CMT4J. Chow CY; Zhang Y; Dowling JJ; Jin N; Adamska M; Shiga K; Szigeti K; Shy ME; Li J; Zhang X; Lupski JR; Weisman LS; Meisler MH Nature; 2007 Jul; 448(7149):68-72. PubMed ID: 17572665 [TBL] [Abstract][Full Text] [Related]
20. The chloride antiporter CLCN7 is a modifier of lysosome dysfunction in FIG4 and VAC14 mutants. Cao X; Lenk GM; Mikusevic V; Mindell JA; Meisler MH PLoS Genet; 2023 Jun; 19(6):e1010800. PubMed ID: 37363915 [TBL] [Abstract][Full Text] [Related] [Next] [New Search]