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Journal Abstract Search

575 related items for PubMed ID: 16856127

  • 1. Major myelin protein gene (P0) mutation causes a novel form of axonal degeneration.
    Li J, Bai Y, Ianakova E, Grandis M, Uchwat F, Trostinskaia A, Krajewski KM, Garbern J, Kupsky WJ, Shy ME.
    J Comp Neurol; 2006 Sep 10; 498(2):252-65. PubMed ID: 16856127
    [Abstract] [Full Text] [Related]

  • 2. Phenotypic clustering in MPZ mutations.
    Shy ME, Jáni A, Krajewski K, Grandis M, Lewis RA, Li J, Shy RR, Balsamo J, Lilien J, Garbern JY, Kamholz J.
    Brain; 2004 Feb 10; 127(Pt 2):371-84. PubMed ID: 14711881
    [Abstract] [Full Text] [Related]

  • 3. Skin biopsies demonstrate MPZ splicing abnormalities in Charcot-Marie-Tooth neuropathy 1B.
    Sabet A, Li J, Ghandour K, Pu Q, Wu X, Kamholz J, Shy ME, Cambi F.
    Neurology; 2006 Oct 10; 67(7):1141-6. PubMed ID: 17030746
    [Abstract] [Full Text] [Related]

  • 4. A novel mutation, Thr65Ala, in the MPZ gene in a patient with Charcot-Marie-Tooth type 1B disease with focally folded myelin.
    Kochanski A, Drac H, Kabzińska D, Hausmanowa-Petrusewicz I.
    Neuromuscul Disord; 2004 Mar 10; 14(3):229-32. PubMed ID: 15036333
    [Abstract] [Full Text] [Related]

  • 5. Effect of an R69C mutation in the myelin protein zero gene on myelination and ion channel subtypes.
    Bai Y, Ianokova E, Pu Q, Ghandour K, Levinson R, Martin JJ, Ceuterick-de Groote C, Mazanec R, Seeman P, Shy ME, Li J.
    Arch Neurol; 2006 Dec 10; 63(12):1787-94. PubMed ID: 17172621
    [Abstract] [Full Text] [Related]

  • 6. 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
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  • 7. A novel MPZ mutation in Charcot-Marie-Tooth disease type 1B with focally folded myelin and multiple entrapment neuropathies.
    Iida M, Koike H, Ando T, Sugiura M, Yamamoto M, Tanaka F, Sobue G.
    Neuromuscul Disord; 2012 Feb 14; 22(2):166-9. PubMed ID: 21940171
    [Abstract] [Full Text] [Related]

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  • 9. Early onset Charcot-Marie-Tooth type 1B disease caused by a novel Leu190fs mutation in the myelin protein zero gene.
    Kochański A, Kabzińska D, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Eur J Paediatr Neurol; 2004 Feb 14; 8(4):221-4. PubMed ID: 15261887
    [Abstract] [Full Text] [Related]

  • 10. Pathology of a mouse mutation in peripheral myelin protein P0 is characteristic of a severe and early onset form of human Charcot-Marie-Tooth type 1B disorder.
    Rünker AE, Kobsar I, Fink T, Loers G, Tilling T, Putthoff P, Wessig C, Martini R, Schachner M.
    J Cell Biol; 2004 May 24; 165(4):565-73. PubMed ID: 15148307
    [Abstract] [Full Text] [Related]

  • 11. [Two families of Charcot-Marie-Tooth disease with Adie's pupil, axonal neuropahy and the Thr124Met mutation in the peripheral myelin protein zero gene].
    Misu K, Yoshihara T, Yamamoto M, Hattori N, Nagamatu M, Mukai E, Takegami T, Sobue G.
    Rinsho Shinkeigaku; 2000 Feb 24; 40(2):149-54. PubMed ID: 10835936
    [Abstract] [Full Text] [Related]

  • 12. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 24; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 13. Clinical and genetic description of a family with Charcot-Marie-Tooth disease type 1B from a transmembrane MPZ mutation.
    Eggers SD, Keswani SC, Melli G, Cornblath DR.
    Muscle Nerve; 2004 Jun 24; 29(6):867-9. PubMed ID: 15170620
    [Abstract] [Full Text] [Related]

  • 14. Mitochondrial schwannopathy and peripheral myelinopathy in a rabbit model of dideoxycytidine neurotoxicity.
    Anderson TD, Davidovich A, Feldman D, Sprinkle TJ, Arezzo J, Brosnan C, Calderon RO, Fossom LH, DeVries JT, DeVries GH.
    Lab Invest; 1994 May 24; 70(5):724-39. PubMed ID: 7515130
    [Abstract] [Full Text] [Related]

  • 15. Altered trafficking and adhesion function of MPZ mutations and phenotypes of Charcot-Marie-Tooth disease 1B.
    Matsuyama W, Nakagawa M, Takashima H, Osame M.
    Acta Neuropathol; 2002 May 24; 103(5):501-8. PubMed ID: 11935267
    [Abstract] [Full Text] [Related]

  • 16. Common themes in peripheral neuropathy disease genes.
    Snipes GJ, Orfali W.
    Cell Biol Int; 1998 Nov 24; 22(11-12):815-35. PubMed ID: 10873294
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  • 18. A case of CMT 1B due to Val 102/fs null mutation of the MPZ gene presenting as hyperCKemia.
    Luigetti M, Modoni A, Renna R, Silvestri G, Ricci E, Montano N, Tasca G, Papacci M, Monforte M, Conte A, Pomponi MG, Sabatelli M.
    Clin Neurol Neurosurg; 2010 Nov 24; 112(9):794-7. PubMed ID: 20537790
    [Abstract] [Full Text] [Related]

  • 19. Marked phenotypic variation in a family with a new myelin protein zero mutation.
    Szabo A, Züchner S, Siska E, Mechler F, Molnar MJ.
    Neuromuscul Disord; 2005 Nov 24; 15(11):760-3. PubMed ID: 16198109
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