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Journal Abstract Search

192 related items for PubMed ID: 28190646

  • 1. 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; 27(5):487-491. PubMed ID: 28190646
    [Abstract] [Full Text] [Related]

  • 2. 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]

  • 3. 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 15; 21(4):301-304. PubMed ID: 32488727
    [Abstract] [Full Text] [Related]

  • 4. 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]

  • 5. A Sporadic Case of Charcot-Marie-Tooth Disease Type 2 with Left Vocal Fold Palsy due to Mitofusin 2 Mutation.
    Kanemaru K, Ogawa G, Mochizuki H, Nakazato M, Shiomi K.
    Intern Med; 2019 Jul 15; 58(14):2091-2093. PubMed ID: 30996168
    [Abstract] [Full Text] [Related]

  • 6. Vocal cord paresis and diaphragmatic dysfunction are severe and frequent symptoms of GDAP1-associated neuropathy.
    Sevilla T, Jaijo T, Nauffal D, Collado D, Chumillas MJ, Vilchez JJ, Muelas N, Bataller L, Domenech R, Espinós C, Palau F.
    Brain; 2008 Nov 15; 131(Pt 11):3051-61. PubMed ID: 18812441
    [Abstract] [Full Text] [Related]

  • 7. 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 15; 86(1):55-67. PubMed ID: 31070812
    [Abstract] [Full Text] [Related]

  • 8. Clinical, electrophysiological and morphological findings of Charcot-Marie-Tooth neuropathy with vocal cord palsy and mutations in the GDAP1 gene.
    Sevilla T, Cuesta A, Chumillas MJ, Mayordomo F, Pedrola L, Palau F, Vílchez JJ.
    Brain; 2003 Sep 15; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 9. 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]

  • 10.
    ; . PubMed ID:
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  • 11. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
    Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
    Neuromuscul Disord; 2004 Apr 15; 14(4):261-4. PubMed ID: 15019704
    [Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. 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]

  • 14.
    Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, Bird TD.
    ; 1993 Sep 14. PubMed ID: 20301641
    [Abstract] [Full Text] [Related]

  • 15. 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]

  • 16. 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 15; 55(4):3546-3550. PubMed ID: 28509084
    [Abstract] [Full Text] [Related]

  • 17. Confounding clinical presentation and different disease progression in CMT4B1.
    Guimarães-Costa R, Villar-Quiles RN, Latour P, Sole G, Husson I, Lacour A, Leonard-Louis S, Stojkovic T.
    Neuromuscul Disord; 2020 Jul 15; 30(7):576-582. PubMed ID: 32586600
    [Abstract] [Full Text] [Related]

  • 18. Charcot-Marie-Tooth disease type 2C: a distinct genetic entity. Clinical and molecular characterization of the first European family.
    Santoro L, Manganelli F, Di Maio L, Barbieri F, Carella M, D'Adamo P, Casari G.
    Neuromuscul Disord; 2002 May 15; 12(4):399-404. PubMed ID: 12062259
    [Abstract] [Full Text] [Related]

  • 19. Charcot-Marie-Tooth 4B2 caused by a novel mutation in the MTMR13/SBF2 gene in two related Portuguese families.
    Negrão L, Almendra L, Ribeiro J, Matos A, Geraldo A, Pinto-Basto J.
    Acta Myol; 2014 Dec 15; 33(3):144-8. PubMed ID: 25873783
    [Abstract] [Full Text] [Related]

  • 20. 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]

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