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419 related items for PubMed ID: 15050444

  • 1. Myelin protein zero gene mutations in Taiwanese patients with Charcot-Marie-Tooth disease type 1.
    Lee YC, Soong BW, Lin KP, Lee HY, Wu ZA, Kao KP.
    J Neurol Sci; 2004 Apr 15; 219(1-2):95-100. PubMed ID: 15050444
    [Abstract] [Full Text] [Related]

  • 2. Molecular analysis in Japanese patients with Charcot-Marie-Tooth disease: DGGE analysis for PMP22, MPZ, and Cx32/GJB1 mutations.
    Numakura C, Lin C, Ikegami T, Guldberg P, Hayasaka K.
    Hum Mutat; 2002 Nov 15; 20(5):392-8. PubMed ID: 12402337
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Screening for mutations in the peripheral myelin genes PMP22, MPZ and Cx32 (GJB1) in Russian Charcot-Marie-Tooth neuropathy patients.
    Mersiyanova IV, Ismailov SM, Polyakov AV, Dadali EL, Fedotov VP, Nelis E, Löfgren A, Timmerman V, van Broeckhoven C, Evgrafov OV.
    Hum Mutat; 2000 Nov 15; 15(4):340-7. PubMed ID: 10737979
    [Abstract] [Full Text] [Related]

  • 5. Mutations in the myelin protein zero gene associated with Charcot-Marie-Tooth disease type 1B.
    Latour P, Blanquet F, Nelis E, Bonnebouche C, Chapon F, Diraison P, Ollagnon E, Dautigny A, Pham-Dinh D, Chazot G.
    Hum Mutat; 1995 Nov 15; 6(1):50-4. PubMed ID: 7550231
    [Abstract] [Full Text] [Related]

  • 6. 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 Nov 15; 8(4):221-4. PubMed ID: 15261887
    [Abstract] [Full Text] [Related]

  • 7. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
    Huehne K, Benes V, Thiel C, Kraus C, Kress W, Hoeltzenbein M, Ploner CJ, Kotzian J, Reis A, Rott HD, Rautenstrauss BW.
    Hum Mutat; 2003 Jan 15; 21(1):100. PubMed ID: 12497641
    [Abstract] [Full Text] [Related]

  • 8. Inherited peripheral neuropathy.
    Keller MP, Chance PF.
    Semin Neurol; 1999 Jan 15; 19(4):353-62. PubMed ID: 10716658
    [Abstract] [Full Text] [Related]

  • 9. 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 15; 112(9):794-7. PubMed ID: 20537790
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 14(3):229-32. PubMed ID: 15036333
    [Abstract] [Full Text] [Related]

  • 11. Mutation testing in Charcot-Marie-Tooth neuropathy.
    Nicholson GA.
    Ann N Y Acad Sci; 1999 Sep 14; 883():383-8. PubMed ID: 10586262
    [Abstract] [Full Text] [Related]

  • 12. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J, Tang B, Xia J.
    Zhonghua Yi Xue Za Zhi; 2001 Feb 10; 81(3):138-41. PubMed ID: 11798863
    [Abstract] [Full Text] [Related]

  • 13. A new MPZ mutation associated with a mild CMT1 phenotype presenting with recurrent nerve compression.
    Magot A, Latour P, Mussini JM, Mourtada R, Guiheneuc P, Pereon Y.
    Muscle Nerve; 2008 Aug 10; 38(2):1055-9. PubMed ID: 18663734
    [Abstract] [Full Text] [Related]

  • 14. Molecular basis of hereditary neuropathies.
    Chance PF.
    Phys Med Rehabil Clin N Am; 2001 May 10; 12(2):277-91. PubMed ID: 11345007
    [Abstract] [Full Text] [Related]

  • 15. Mutational analysis of PMP22, MPZ, GJB1, EGR2 and NEFL in Korean Charcot-Marie-Tooth neuropathy patients.
    Choi BO, Lee MS, Shin SH, Hwang JH, Choi KG, Kim WK, Sunwoo IN, Kim NK, Chung KW.
    Hum Mutat; 2004 Aug 10; 24(2):185-6. PubMed ID: 15241803
    [Abstract] [Full Text] [Related]

  • 16. Charcot-Marie-Tooth disease with intermediate conduction velocities caused by a novel mutation in the MPZ gene.
    Banchs I, Casasnovas C, Montero J, Volpini V, Martínez-Matos JA.
    Muscle Nerve; 2010 Aug 10; 42(2):184-8. PubMed ID: 20544920
    [Abstract] [Full Text] [Related]

  • 17. Spectrum of mutations in Finnish patients with Charcot-Marie-Tooth disease and related neuropathies.
    Silander K, Meretoja P, Juvonen V, Ignatius J, Pihko H, Saarinen A, Wallden T, Herrgård E, Aula P, Savontaus ML.
    Hum Mutat; 1998 Aug 10; 12(1):59-68. PubMed ID: 9633821
    [Abstract] [Full Text] [Related]

  • 18. [Genetics of peripheral neuropathies and hereditary ataxias].
    Palau F, Sevilla T.
    Neurologia; 1995 Dec 10; 10 Suppl 1():32-43. PubMed ID: 8838557
    [Abstract] [Full Text] [Related]

  • 19. [Mutation of the myelin Po gene in hereditary motor and sensory neuropathy].
    Hayasaka K.
    Rinsho Shinkeigaku; 1995 Dec 10; 35(12):1444-6. PubMed ID: 8752425
    [Abstract] [Full Text] [Related]

  • 20. Severe demyelinating hypertrophic polyneuropathy caused by a de novo frameshift mutation within the intracellular domain of myelin protein zero (MPZ/P0).
    Zschüntzsch J, Dibaj P, Pilgram S, Kötting J, Gerding WM, Neusch C.
    J Neurol Sci; 2009 Jun 15; 281(1-2):113-5. PubMed ID: 19344920
    [Abstract] [Full Text] [Related]

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