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Journal Abstract Search

289 related items for PubMed ID: 27466180

  • 21. 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]

  • 22. An animal model for Charcot-Marie-Tooth disease type 4B1.
    Bonneick S, Boentert M, Berger P, Atanasoski S, Mantei N, Wessig C, Toyka KV, Young P, Suter U.
    Hum Mol Genet; 2005 Dec 01; 14(23):3685-95. PubMed ID: 16249189
    [Abstract] [Full Text] [Related]

  • 23. Regulation of myelin-specific gene expression. Relevance to CMT1.
    Kamholz J, Awatramani R, Menichella D, Jiang H, Xu W, Shy M.
    Ann N Y Acad Sci; 1999 Sep 14; 883():91-108. PubMed ID: 10586235
    [Abstract] [Full Text] [Related]

  • 24. Stringent comparative sequence analysis reveals SOX10 as a putative inhibitor of glial cell differentiation.
    Gopinath C, Law WD, Rodríguez-Molina JF, Prasad AB, Song L, Crawford GE, Mullikin JC, Svaren J, Antonellis A.
    BMC Genomics; 2016 Nov 07; 17(1):887. PubMed ID: 27821050
    [Abstract] [Full Text] [Related]

  • 25. Loss of the inactive myotubularin-related phosphatase Mtmr13 leads to a Charcot-Marie-Tooth 4B2-like peripheral neuropathy in mice.
    Robinson FL, Niesman IR, Beiswenger KK, Dixon JE.
    Proc Natl Acad Sci U S A; 2008 Mar 25; 105(12):4916-21. PubMed ID: 18349142
    [Abstract] [Full Text] [Related]

  • 26. SOX10 regulates expression of the SH3-domain kinase binding protein 1 (Sh3kbp1) locus in Schwann cells via an alternative promoter.
    Hodonsky CJ, Kleinbrink EL, Charney KN, Prasad M, Bessling SL, Jones EA, Srinivasan R, Svaren J, McCallion AS, Antonellis A.
    Mol Cell Neurosci; 2012 Feb 25; 49(2):85-96. PubMed ID: 22037207
    [Abstract] [Full Text] [Related]

  • 27. SOX10-regulated promoter use defines isoform-specific gene expression in Schwann cells.
    Fogarty EA, Kitzman JO, Antonellis A.
    BMC Genomics; 2020 Aug 08; 21(1):549. PubMed ID: 32770939
    [Abstract] [Full Text] [Related]

  • 28. Myelin is dependent on the Charcot-Marie-Tooth Type 4H disease culprit protein FRABIN/FGD4 in Schwann cells.
    Horn M, Baumann R, Pereira JA, Sidiropoulos PN, Somandin C, Welzl H, Stendel C, Lühmann T, Wessig C, Toyka KV, Relvas JB, Senderek J, Suter U.
    Brain; 2012 Dec 08; 135(Pt 12):3567-83. PubMed ID: 23171661
    [Abstract] [Full Text] [Related]

  • 29. Establishment of myelinating Schwann cells and barrier integrity between central and peripheral nervous systems depend on Sox10.
    Fröb F, Bremer M, Finzsch M, Kichko T, Reeh P, Tamm ER, Charnay P, Wegner M.
    Glia; 2012 May 08; 60(5):806-19. PubMed ID: 22337526
    [Abstract] [Full Text] [Related]

  • 30. 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]

  • 31. 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 23; 72(5):1141-53. PubMed ID: 12687498
    [Abstract] [Full Text] [Related]

  • 32. A genome-wide assessment of conserved SNP alleles reveals a panel of regulatory SNPs relevant to the peripheral nerve.
    Law WD, Fogarty EA, Vester A, Antonellis A.
    BMC Genomics; 2018 May 02; 19(1):311. PubMed ID: 29716548
    [Abstract] [Full Text] [Related]

  • 33. c-Jun activation in Schwann cells protects against loss of sensory axons in inherited neuropathy.
    Hantke J, Carty L, Wagstaff LJ, Turmaine M, Wilton DK, Quintes S, Koltzenburg M, Baas F, Mirsky R, Jessen KR.
    Brain; 2014 Nov 02; 137(Pt 11):2922-37. PubMed ID: 25216747
    [Abstract] [Full Text] [Related]

  • 34. 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]

  • 35. Human Connexin 32, a gap junction protein altered in the X-linked form of Charcot-Marie-Tooth disease, is directly regulated by the transcription factor SOX10.
    Bondurand N, Girard M, Pingault V, Lemort N, Dubourg O, Goossens M.
    Hum Mol Genet; 2001 Nov 15; 10(24):2783-95. PubMed ID: 11734543
    [Abstract] [Full Text] [Related]

  • 36. Identification of the regulatory region of the peripheral myelin protein 22 (PMP22) gene that directs temporal and spatial expression in development and regeneration of peripheral nerves.
    Maier M, Berger P, Nave KA, Suter U.
    Mol Cell Neurosci; 2002 May 15; 20(1):93-109. PubMed ID: 12056842
    [Abstract] [Full Text] [Related]

  • 37. Charcot-Marie-Tooth disease: an update.
    Shy ME.
    Curr Opin Neurol; 2004 Oct 15; 17(5):579-85. PubMed ID: 15367862
    [Abstract] [Full Text] [Related]

  • 38.
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  • 39. 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]

  • 40. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 15; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

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