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150 related items for PubMed ID: 32488727

  • 1. Novel MTMR2 mutation causing severe Charcot-Marie-Tooth type 4B1 disease: a case report.
    Halperin D, Sapir A, Wormser O, Drabkin M, Yogev Y, Dolgin V, Flusser H, Birk OS.
    Neurogenetics; 2020 Oct; 21(4):301-304. PubMed ID: 32488727
    [Abstract] [Full Text] [Related]

  • 2. Whole-Exome Sequencing Identifies a Novel Homozygous Frameshift Mutation in the MTMR2 Gene as a Causative Mutation in a Patient with Charcot-Marie-Tooth Disease Type 4B1.
    Abdalla-Moady T, Peleg A, Sadeh O, Badarneh K, Fares F.
    Mol Neurobiol; 2018 Apr; 55(4):3546-3550. PubMed ID: 28509084
    [Abstract] [Full Text] [Related]

  • 3. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y.
    J Neurol Sci; 2013 Nov 15; 334(1-2):176-9. PubMed ID: 23962696
    [Abstract] [Full Text] [Related]

  • 4. Loss of phosphatase activity in myotubularin-related protein 2 is associated with Charcot-Marie-Tooth disease type 4B1.
    Berger P, Bonneick S, Willi S, Wymann M, Suter U.
    Hum Mol Genet; 2002 Jun 15; 11(13):1569-79. PubMed ID: 12045210
    [Abstract] [Full Text] [Related]

  • 5. Mutations in MTMR13, a new pseudophosphatase homologue of MTMR2 and Sbf1, in two families with an autosomal recessive demyelinating form of Charcot-Marie-Tooth disease associated with early-onset glaucoma.
    Azzedine H, Bolino A, Taïeb T, Birouk N, Di Duca M, Bouhouche A, Benamou S, Mrabet A, Hammadouche T, Chkili T, Gouider R, Ravazzolo R, Brice A, Laporte J, LeGuern E.
    Am J Hum Genet; 2003 May 15; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 6. Identification of a Novel Homozygous Mutation in MTMR2 Gene Causes Very Rare Charcot-Marie-Tooth Disease Type 4B1.
    Du N, Wang X, Wang Z, Liu H, Liu H, Duan H, Zhao S, Banerjee S, Zhang X.
    Appl Clin Genet; 2024 May 15; 17():71-84. PubMed ID: 38835974
    [Abstract] [Full Text] [Related]

  • 7. Vocal cord paralysis in Charcot-Marie-Tooth type 4b1 disease associated with a novel mutation in the myotubularin-related protein 2 gene: A case report and review of the literature.
    Zambon AA, Natali Sora MG, Cantarella G, Cerri F, Quattrini A, Comi G, Previtali SC, Bolino A.
    Neuromuscul Disord; 2017 May 15; 27(5):487-491. PubMed ID: 28190646
    [Abstract] [Full Text] [Related]

  • 8. Novel mutations in the PRX and the MTMR2 genes are responsible for unusual Charcot-Marie-Tooth disease phenotypes.
    Nouioua S, Hamadouche T, Funalot B, Bernard R, Bellatache N, Bouderba R, Grid D, Assami S, Benhassine T, Levy N, Vallat JM, Tazir M.
    Neuromuscul Disord; 2011 Aug 15; 21(8):543-50. PubMed ID: 21741241
    [Abstract] [Full Text] [Related]

  • 9. SOX10 regulates an alternative promoter at the Charcot-Marie-Tooth disease locus MTMR2.
    Fogarty EA, Brewer MH, Rodriguez-Molina JF, Law WD, Ma KH, Steinberg NM, Svaren J, Antonellis A.
    Hum Mol Genet; 2016 Sep 15; 25(18):3925-3936. PubMed ID: 27466180
    [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 15; 7(10):e1002319. PubMed ID: 22028665
    [Abstract] [Full Text] [Related]

  • 11. Loss of Mtmr2 phosphatase in Schwann cells but not in motor neurons causes Charcot-Marie-Tooth type 4B1 neuropathy with myelin outfoldings.
    Bolis A, Coviello S, Bussini S, Dina G, Pardini C, Previtali SC, Malaguti M, Morana P, Del Carro U, Feltri ML, Quattrini A, Wrabetz L, Bolino A.
    J Neurosci; 2005 Sep 14; 25(37):8567-77. PubMed ID: 16162938
    [Abstract] [Full Text] [Related]

  • 12. A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs).
    Pareyson D, Stojkovic T, Reilly MM, Leonard-Louis S, Laurà M, Blake J, Parman Y, Battaloglu E, Tazir M, Bellatache M, Bonello-Palot N, Lévy N, Sacconi S, Guimarães-Costa R, Attarian S, Latour P, Solé G, Megarbane A, Horvath R, Ricci G, Choi BO, Schenone A, Gemelli C, Geroldi A, Sabatelli M, Luigetti M, Santoro L, Manganelli F, Quattrone A, Valentino P, Murakami T, Scherer SS, Dankwa L, Shy ME, Bacon CJ, Herrmann DN, Zambon A, Tramacere I, Pisciotta C, Magri S, Previtali SC, Bolino A.
    Ann Neurol; 2019 Jul 14; 86(1):55-67. PubMed ID: 31070812
    [Abstract] [Full Text] [Related]

  • 13. Genotype-Phenotype Correlations in Charcot-Marie-Tooth Disease Due to MTMR2 Mutations and Implications in Membrane Trafficking.
    Wang H, Kaçar Bayram A, Sprute R, Ozdemir O, Cooper E, Pergande M, Efthymiou S, Nedic I, Mazaheri N, Stumpfe K, Azizi Malamiri R, Shariati G, Zeighami J, Bayram N, Naghibzadeh SK, Tajik M, Yaşar M, Sami Güven A, Bibi F, Sultan T, Salpietro V, Houlden H, Per H, Galehdari H, Shalbafan B, Jamshidi Y, Cirak S.
    Front Neurosci; 2019 Jul 14; 13():974. PubMed ID: 31680794
    [Abstract] [Full Text] [Related]

  • 14. A novel mutation in FGD4/FRABIN causes Charcot Marie Tooth disease type 4H in patients from a consanguineous Tunisian family.
    Boubaker C, Hsairi-Guidara I, Castro C, Ayadi I, Boyer A, Kerkeni E, Courageot J, Abid I, Bernard R, Bonello-Palot N, Kamoun F, Cheikh HB, Lévy N, Triki C, Delague V.
    Ann Hum Genet; 2013 Jul 14; 77(4):336-43. PubMed ID: 23550889
    [Abstract] [Full Text] [Related]

  • 15. Myotubularin-related 2 protein phosphatase and neurofilament light chain protein, both mutated in CMT neuropathies, interact in peripheral nerve.
    Previtali SC, Zerega B, Sherman DL, Brophy PJ, Dina G, King RH, Salih MM, Feltri L, Quattrini A, Ravazzolo R, Wrabetz L, Monaco AP, Bolino A.
    Hum Mol Genet; 2003 Jul 15; 12(14):1713-23. PubMed ID: 12837694
    [Abstract] [Full Text] [Related]

  • 16. Denaturing high-performance liquid chromatography of the myotubularin-related 2 gene (MTMR2) in unrelated patients with Charcot-Marie-Tooth disease suggests a low frequency of mutation in inherited neuropathy.
    Bolino A, Lonie LJ, Zimmer M, Boerkoel CF, Takashima H, Monaco AP, Lupski JR.
    Neurogenetics; 2001 Mar 15; 3(2):107-9. PubMed ID: 11354824
    [Abstract] [Full Text] [Related]

  • 17. WES homozygosity mapping in a recessive form of Charcot-Marie-Tooth neuropathy reveals intronic GDAP1 variant leading to a premature stop codon.
    Masingue M, Perrot J, Carlier RY, Piguet-Lacroix G, Latour P, Stojkovic T.
    Neurogenetics; 2018 May 15; 19(2):67-76. PubMed ID: 29396836
    [Abstract] [Full Text] [Related]

  • 18. Mutation of the SBF2 gene, encoding a novel member of the myotubularin family, in Charcot-Marie-Tooth neuropathy type 4B2/11p15.
    Senderek J, Bergmann C, Weber S, Ketelsen UP, Schorle H, Rudnik-Schöneborn S, Büttner R, Buchheim E, Zerres K.
    Hum Mol Genet; 2003 Feb 01; 12(3):349-56. PubMed ID: 12554688
    [Abstract] [Full Text] [Related]

  • 19. Dysregulation of myelin synthesis and actomyosin function underlies aberrant myelin in CMT4B1 neuropathy.
    Guerrero-Valero M, Grandi F, Cipriani S, Alberizzi V, Di Guardo R, Chicanne G, Sawade L, Bianchi F, Del Carro U, De Curtis I, Pareyson D, Parman Y, Schenone A, Haucke V, Payrastre B, Bolino A.
    Proc Natl Acad Sci U S A; 2021 Mar 09; 118(10):. PubMed ID: 33653949
    [Abstract] [Full Text] [Related]

  • 20. A novel homozygous missense mutation in the myotubularin-related protein 2 gene associated with recessive Charcot-Marie-Tooth disease with irregularly folded myelin sheaths.
    Nelis E, Erdem S, Tan E, Löfgren A, Ceuterick C, De Jonghe P, Van Broeckhoven C, Timmerman V, Topaloglu H.
    Neuromuscul Disord; 2002 Nov 09; 12(9):869-73. PubMed ID: 12398840
    [Abstract] [Full Text] [Related]

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