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263 related items for PubMed ID: 23623387

  • 1. Yunis-Varón syndrome is caused by mutations in FIG4, encoding a phosphoinositide phosphatase.
    Campeau PM, Lenk GM, Lu JT, Bae Y, Burrage L, Turnpenny P, Román Corona-Rivera J, Morandi L, Mora M, Reutter H, Vulto-van Silfhout AT, Faivre L, Haan E, Gibbs RA, Meisler MH, Lee BH.
    Am J Hum Genet; 2013 May 02; 92(5):781-91. PubMed ID: 23623387
    [Abstract] [Full Text] [Related]

  • 2. Novel FIG4 mutations in Yunis-Varon syndrome.
    Nakajima J, Okamoto N, Shiraishi J, Nishimura G, Nakashima M, Tsurusaki Y, Saitsu H, Kawashima H, Matsumoto N, Miyake N.
    J Hum Genet; 2013 Dec 02; 58(12):822-4. PubMed ID: 24088667
    [Abstract] [Full Text] [Related]

  • 3. 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 02; 98(2):147-154. PubMed ID: 32385905
    [Abstract] [Full Text] [Related]

  • 4. FIG4 mutations leading to parkinsonism and a phenotypical continuum between CMT4J and Yunis Varón syndrome.
    Zimmermann M, Schuster S, Boesch S, Korenke GC, Mohr J, Reichbauer J, Kernstock C, Kotzot D, Spahlinger V, Schüle-Freyer R, Schöls L.
    Parkinsonism Relat Disord; 2020 May 02; 74():6-11. PubMed ID: 32268254
    [Abstract] [Full Text] [Related]

  • 5. Rescue of neurodegeneration in the Fig4 null mouse by a catalytically inactive FIG4 transgene.
    Lenk GM, Frei CM, Miller AC, Wallen RC, Mironova YA, Giger RJ, Meisler MH.
    Hum Mol Genet; 2016 Jan 15; 25(2):340-7. PubMed ID: 26604144
    [Abstract] [Full Text] [Related]

  • 6. Protective role of the lipid phosphatase Fig4 in the adult nervous system.
    Mironova YA, Lin JP, Kalinski AL, Huffman LD, Lenk GM, Havton LA, Meisler MH, Giger RJ.
    Hum Mol Genet; 2018 Jul 15; 27(14):2443-2453. PubMed ID: 29688489
    [Abstract] [Full Text] [Related]

  • 7. Yunis-Varón syndrome caused by biallelic VAC14 mutations.
    Lines MA, Ito Y, Kernohan KD, Mears W, Hurteau-Miller J, Venkateswaran S, Ward L, Khatchadourian K, McClintock J, Bhola P, Care4Rare Consortium, Campeau PM, Boycott KM, Michaud J, van Kuilenburg AB, Ferdinandusse S, Dyment DA.
    Eur J Hum Genet; 2017 Sep 15; 25(9):1049-1054. PubMed ID: 28635952
    [Abstract] [Full Text] [Related]

  • 8. 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 09; 13(8):. PubMed ID: 36691351
    [Abstract] [Full Text] [Related]

  • 9. Role of the phosphoinositide phosphatase FIG4 gene in familial epilepsy with polymicrogyria.
    Baulac S, Lenk GM, Dufresnois B, Ouled Amar Bencheikh B, Couarch P, Renard J, Larson PA, Ferguson CJ, Noé E, Poirier K, Hubans C, Ferreira S, Guerrini R, Ouazzani R, El Hachimi KH, Meisler MH, Leguern E.
    Neurology; 2014 Mar 25; 82(12):1068-75. PubMed ID: 24598713
    [Abstract] [Full Text] [Related]

  • 10. FIG4-Associated Yunis-Varon Syndrome: Identification of a Novel Missense Variant.
    Umair M, Alkharfy TM, Sajjad S, Alfadhel M.
    Mol Syndromol; 2021 Oct 25; 12(6):386-392. PubMed ID: 34899148
    [Abstract] [Full Text] [Related]

  • 11. Cerebral hypomyelination associated with biallelic variants of FIG4.
    Lenk GM, Berry IR, Stutterd CA, Blyth M, Green L, Vadlamani G, Warren D, Craven I, Fanjul-Fernandez M, Rodriguez-Casero V, Lockhart PJ, Vanderver A, Simons C, Gibb S, Sadedin S, Broad Center for Mendelian Genomics, White SM, Christodoulou J, Skibina O, Ruddle J, Tan TY, Leventer RJ, Livingston JH, Meisler MH.
    Hum Mutat; 2019 May 25; 40(5):619-630. PubMed ID: 30740813
    [Abstract] [Full Text] [Related]

  • 12. CMT4J, parkinsonism and a new FIG4 mutation.
    Posada IJ, Domínguez-González C.
    Parkinsonism Relat Disord; 2020 Dec 25; 81():82-83. PubMed ID: 33096303
    [No Abstract] [Full Text] [Related]

  • 13. Chloroquine corrects enlarged lysosomes in FIG4 null cells and reduces neurodegeneration in Fig4 null mice.
    Lenk GM, Meisler MH.
    Mol Genet Metab; 2022 Dec 25; 137(4):382-387. PubMed ID: 36434903
    [Abstract] [Full Text] [Related]

  • 14. Homozygous variant, p.(Arg643Trp) in VAC14 causes striatonigral degeneration: report of a novel variant and review of VAC14-related disorders.
    Kaur P, Bhavani GS, Raj A, Girisha KM, Shukla A.
    J Hum Genet; 2019 Dec 25; 64(12):1237-1242. PubMed ID: 31591492
    [Abstract] [Full Text] [Related]

  • 15. FIG4 regulates lysosome membrane homeostasis independent of phosphatase function.
    Bharadwaj R, Cunningham KM, Zhang K, Lloyd TE.
    Hum Mol Genet; 2016 Feb 15; 25(4):681-92. PubMed ID: 26662798
    [Abstract] [Full Text] [Related]

  • 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 15; 134(Pt 7):1959-71. PubMed ID: 21705420
    [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 15; 164A(5):1213-7. PubMed ID: 24610892
    [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 15; 25(3):324-331. PubMed ID: 28051077
    [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 05; 448(7149):68-72. PubMed ID: 17572665
    [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 05; 19(6):e1010800. PubMed ID: 37363915
    [Abstract] [Full Text] [Related]

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