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7. Clinical and radiological characterization of novel FIG4-related combined system disease with neuropathy. Wright GC; Brown R; Grayton H; Livingston JH; Park SM; Parker APJ; Patel A; Simonic I; Thomas AG; Vadlamani G; Horvath R; Harijan PD Clin Genet; 2020 Aug; 98(2):147-154. PubMed ID: 32385905 [TBL] [Abstract][Full Text] [Related]
8. 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]
9. Altered phenotypes due to genetic interaction between the mouse phosphoinositide biosynthesis genes Fig4 and Pip4k2c. Cao X; Lenk GM; Meisler MH G3 (Bethesda); 2023 Aug; 13(8):. PubMed ID: 36691351 [TBL] [Abstract][Full Text] [Related]
10. Genetic interaction between MTMR2 and FIG4 phospholipid phosphatases involved in Charcot-Marie-Tooth neuropathies. Vaccari I; Dina G; Tronchère H; Kaufman E; Chicanne G; Cerri F; Wrabetz L; Payrastre B; Quattrini A; Weisman LS; Meisler MH; Bolino A PLoS Genet; 2011 Oct; 7(10):e1002319. PubMed ID: 22028665 [TBL] [Abstract][Full Text] [Related]
11. 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]
12. Neuronal expression of Fig4 is both necessary and sufficient to prevent spongiform neurodegeneration. Ferguson CJ; Lenk GM; Jones JM; Grant AE; Winters JJ; Dowling JJ; Giger RJ; Meisler MH Hum Mol Genet; 2012 Aug; 21(16):3525-34. PubMed ID: 22581779 [TBL] [Abstract][Full Text] [Related]
13. Myelin abnormality in Charcot-Marie-Tooth type 4J recapitulates features of acquired demyelination. Hu B; McCollum M; Ravi V; Arpag S; Moiseev D; Castoro R; Mobley B; Burnette B; Siskind C; Day J; Yawn R; Feely S; Li Y; Yan Q; Shy M; Li J Ann Neurol; 2018 Apr; 83(4):756-770. PubMed ID: 29518270 [TBL] [Abstract][Full Text] [Related]
14. Knockdown of the Drosophila FIG4 induces deficient locomotive behavior, shortening of motor neuron, axonal targeting aberration, reduction of life span and defects in eye development. Kyotani A; Azuma Y; Yamamoto I; Yoshida H; Mizuta I; Mizuno T; Nakagawa M; Tokuda T; Yamaguchi M Exp Neurol; 2016 Mar; 277():86-95. PubMed ID: 26708557 [TBL] [Abstract][Full Text] [Related]
15. CMT4J, parkinsonism and a new FIG4 mutation. Posada IJ; Domínguez-González C Parkinsonism Relat Disord; 2020 Dec; 81():82-83. PubMed ID: 33096303 [No Abstract] [Full Text] [Related]
16. A New Mutation in FIG4 Causes a Severe Form of CMT4J Involving TRPV4 in the Pathogenic Cascade. Gentil BJ; O'Ferrall E; Chalk C; Santana LF; Durham HD; Massie R J Neuropathol Exp Neurol; 2017 Sep; 76(9):789-799. PubMed ID: 28859335 [TBL] [Abstract][Full Text] [Related]