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177 related items for PubMed ID: 33878035

  • 1. AAV9-mediated FIG4 delivery prolongs life span in Charcot-Marie-Tooth disease type 4J mouse model.
    Presa M, Bailey RM, Davis C, Murphy T, Cook J, Walls R, Wilpan H, Bogdanik L, Lenk GM, Burgess RW, Gray SJ, Lutz C.
    J Clin Invest; 2021 Jun 01; 131(11):. PubMed ID: 33878035
    [Abstract] [Full Text] [Related]

  • 2. Adeno-associated virus gene therapy to the rescue for Charcot-Marie-Tooth disease type 4J.
    Svaren J.
    J Clin Invest; 2021 Jun 01; 131(11):. PubMed ID: 34060476
    [Abstract] [Full Text] [Related]

  • 3. 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 01; 7(10):e1002319. PubMed ID: 22028665
    [Abstract] [Full Text] [Related]

  • 4. Loss of Fig4 in both Schwann cells and motor neurons contributes to CMT4J neuropathy.
    Vaccari I, Carbone A, Previtali SC, Mironova YA, Alberizzi V, Noseda R, Rivellini C, Bianchi F, Del Carro U, D'Antonio M, Lenk GM, Wrabetz L, Giger RJ, Meisler MH, Bolino A.
    Hum Mol Genet; 2015 Jan 15; 24(2):383-96. PubMed ID: 25187576
    [Abstract] [Full Text] [Related]

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  • 6. Congenital CNS hypomyelination in the Fig4 null mouse is rescued by neuronal expression of the PI(3,5)P(2) phosphatase Fig4.
    Winters JJ, Ferguson CJ, Lenk GM, Giger-Mateeva VI, Shrager P, Meisler MH, Giger RJ.
    J Neurosci; 2011 Nov 30; 31(48):17736-51. PubMed ID: 22131434
    [Abstract] [Full Text] [Related]

  • 7. 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 30; 83(4):756-770. PubMed ID: 29518270
    [Abstract] [Full Text] [Related]

  • 8. Pathogenic mechanism of the FIG4 mutation responsible for Charcot-Marie-Tooth disease CMT4J.
    Lenk GM, Ferguson CJ, Chow CY, Jin N, Jones JM, Grant AE, Zolov SN, Winters JJ, Giger RJ, Dowling JJ, Weisman LS, Meisler MH.
    PLoS Genet; 2011 Jun 30; 7(6):e1002104. PubMed ID: 21655088
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10. Severe Consequences of SAC3/FIG4 Phosphatase Deficiency to Phosphoinositides in Patients with Charcot-Marie-Tooth Disease Type-4J.
    Shisheva A, Sbrissa D, Hu B, Li J.
    Mol Neurobiol; 2019 Dec 05; 56(12):8656-8667. PubMed ID: 31313076
    [Abstract] [Full Text] [Related]

  • 11. 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]

  • 12. Mutation of FIG4 causes a rapidly progressive, asymmetric neuronal degeneration.
    Zhang X, Chow CY, Sahenk Z, Shy ME, Meisler MH, Li J.
    Brain; 2008 Aug 15; 131(Pt 8):1990-2001. PubMed ID: 18556664
    [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 15; 137(4):382-387. PubMed ID: 36434903
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 74():6-11. PubMed ID: 32268254
    [Abstract] [Full Text] [Related]

  • 15. A dysfunctional endolysosomal pathway common to two sub-types of demyelinating Charcot-Marie-Tooth disease.
    Edgar JR, Ho AK, Laurá M, Horvath R, Reilly MM, Luzio JP, Roberts RC.
    Acta Neuropathol Commun; 2020 Oct 15; 8(1):165. PubMed ID: 33059769
    [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 01; 76(9):789-799. PubMed ID: 28859335
    [Abstract] [Full Text] [Related]

  • 17. 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]

  • 18. 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 15; 21(16):3525-34. PubMed ID: 22581779
    [Abstract] [Full Text] [Related]

  • 19. Clinical Characteristics of Charcot-Marie-Tooth Disease Type 4J.
    Sadjadi R, Picher-Martel V, Morrow JM, Thedens D, DiCamillo PA, McCray BA, Pareyson D, Herrmann DN, Reilly MM, Li J, Castro D, Shy ME, Inherited Neuropathy ConsortiumFrom the Department of Neurology (R.S., V.P.-M.), Massachusetts General Hospital, Harvard Medical School, Boston; Centre for Neuromuscular Diseases (J.M.M., M.M.R.), Department of Neuromuscular Diseases, UCL Queen Square Institute of Neurology, London, United Kingdom; Department of Neurology (D.T.), and Department of Radiology (P.A.D.), University of Iowa Health Care, Carver College of Medicine, Iowa City; Michigan Neuroscience Institute (B.A.M.), University of Michigan, Ann Arbor; Unit of Medical Genetics and Neurogenetics (D.P.), Department of Diagnostics and Technology, Fondazione IRCCS Istituto Neurologico Carlo Besta, Milan, Italy; Department of Neurology (D.N.H.), University of Rochester, NY; Department of Neurology (J.L.), Houston Methodist Research Institute; Neurology & Neuromuscular Care Center/Neurology Rare Disease Center (D.C.), Denton, TX; and Department of Molecular Physiology and Biophysics (M.E.S.), University of Iowa Health Care, Carver College of Medicine, Iowa City..
    Neurology; 2024 Sep 10; 103(5):e209763. PubMed ID: 39133880
    [Abstract] [Full Text] [Related]

  • 20. Distinct pathogenic processes between Fig4-deficient motor and sensory neurons.
    Katona I, Zhang X, Bai Y, Shy ME, Guo J, Yan Q, Hatfield J, Kupsky WJ, Li J.
    Eur J Neurosci; 2011 Apr 10; 33(8):1401-10. PubMed ID: 21410794
    [Abstract] [Full Text] [Related]

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