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Journal Abstract Search

131 related items for PubMed ID: 11354824

  • 1. 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; 3(2):107-9. PubMed ID: 11354824
    [Abstract] [Full Text] [Related]

  • 2. 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; 12(9):869-73. PubMed ID: 12398840
    [Abstract] [Full Text] [Related]

  • 3. Charcot-Marie-Tooth type 4B is caused by mutations in the gene encoding myotubularin-related protein-2.
    Bolino A, Muglia M, Conforti FL, LeGuern E, Salih MA, Georgiou DM, Christodoulou K, Hausmanowa-Petrusewicz I, Mandich P, Schenone A, Gambardella A, Bono F, Quattrone A, Devoto M, Monaco AP.
    Nat Genet; 2000 May; 25(1):17-9. PubMed ID: 10802647
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. 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]

  • 6. The phosphoinositide-3-phosphatase MTMR2 associates with MTMR13, a membrane-associated pseudophosphatase also mutated in type 4B Charcot-Marie-Tooth disease.
    Robinson FL, Dixon JE.
    J Biol Chem; 2005 Sep 09; 280(36):31699-707. PubMed ID: 15998640
    [Abstract] [Full Text] [Related]

  • 7. 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 09; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 8. Molecular characterization and expression analysis of Mtmr2, mouse homologue of MTMR2, the Myotubularin-related 2 gene, mutated in CMT4B.
    Bolino A, Marigo V, Ferrera F, Loader J, Romio L, Leoni A, Di Duca M, Cinti R, Cecchi C, Feltri ML, Wrabetz L, Ravazzolo R, Monaco AP.
    Gene; 2002 Jan 23; 283(1-2):17-26. PubMed ID: 11867209
    [Abstract] [Full Text] [Related]

  • 9. Mutations in the 5' region of the myotubularin-related protein 2 (MTMR2) gene in autosomal recessive hereditary neuropathy with focally folded myelin.
    Houlden H, King RH, Wood NW, Thomas PK, Reilly MM.
    Brain; 2001 May 23; 124(Pt 5):907-15. PubMed ID: 11335693
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ.
    Acta Neurol Scand Suppl; 2012 Nov 15; (193):iv-22. PubMed ID: 23106488
    [Abstract] [Full Text] [Related]

  • 12. Genetic heterogeneity in autosomal recessive hereditary motor and sensory neuropathy with focally folded myelin sheaths (CMT4B).
    Gambardella A, Bolino A, Muglia M, Valentino P, Bono F, Oliveri RL, Sabatelli M, Brancolini V, Van Broeckhoven C, Romeo G, Devoto M, Quattrone A.
    Neurology; 1998 Mar 15; 50(3):799-801. PubMed ID: 9521281
    [Abstract] [Full Text] [Related]

  • 13. Charcot-Marie-Tooth type 4B demyelinating neuropathy: deciphering the role of MTMR phosphatases.
    Previtali SC, Quattrini A, Bolino A.
    Expert Rev Mol Med; 2007 Sep 20; 9(25):1-16. PubMed ID: 17880751
    [Abstract] [Full Text] [Related]

  • 14. 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 20; 21(4):301-304. PubMed ID: 32488727
    [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. Myotubularin and MTMR2, phosphatidylinositol 3-phosphatases mutated in myotubular myopathy and type 4B Charcot-Marie-Tooth disease.
    Kim SA, Taylor GS, Torgersen KM, Dixon JE.
    J Biol Chem; 2002 Feb 08; 277(6):4526-31. PubMed ID: 11733541
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