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274 related items for PubMed ID: 16775369

  • 1. Molecular genetics of autosomal-recessive axonal Charcot-Marie-Tooth neuropathies.
    Bernard R, De Sandre-Giovannoli A, Delague V, Lévy N.
    Neuromolecular Med; 2006; 8(1-2):87-106. PubMed ID: 16775369
    [Abstract] [Full Text] [Related]

  • 2. Homozygous defects in LMNA, encoding lamin A/C nuclear-envelope proteins, cause autosomal recessive axonal neuropathy in human (Charcot-Marie-Tooth disorder type 2) and mouse.
    De Sandre-Giovannoli A, Chaouch M, Kozlov S, Vallat JM, Tazir M, Kassouri N, Szepetowski P, Hammadouche T, Vandenberghe A, Stewart CL, Grid D, Lévy N.
    Am J Hum Genet; 2002 Mar; 70(3):726-36. PubMed ID: 11799477
    [Abstract] [Full Text] [Related]

  • 3. Autosomal-recessive forms of demyelinating Charcot-Marie-Tooth disease.
    Dubourg O, Azzedine H, Verny C, Durosier G, Birouk N, Gouider R, Salih M, Bouhouche A, Thiam A, Grid D, Mayer M, Ruberg M, Tazir M, Brice A, LeGuern E.
    Neuromolecular Med; 2006 Mar; 8(1-2):75-86. PubMed ID: 16775368
    [Abstract] [Full Text] [Related]

  • 4. Autosomal recessive Charcot-Marie-Tooth disease: from genes to phenotypes.
    Tazir M, Bellatache M, Nouioua S, Vallat JM.
    J Peripher Nerv Syst; 2013 Jun; 18(2):113-29. PubMed ID: 23781959
    [Abstract] [Full Text] [Related]

  • 5. [Autosomal recessive forms of Charcot-Marie-Tooth disease].
    Vallat JM, Grid D, Magdelaine C, Sturtz F, Levy N, Tazir M.
    Bull Acad Natl Med; 2005 Jan; 189(1):55-68; discussion 68-9. PubMed ID: 16119880
    [Abstract] [Full Text] [Related]

  • 6. Autosomal recessive forms of Charcot-Marie-Tooth disease.
    Vallat JM, Grid D, Magdelaine C, Sturtz F, Tazir M.
    Curr Neurol Neurosci Rep; 2004 Sep; 4(5):413-9. PubMed ID: 15324608
    [Abstract] [Full Text] [Related]

  • 7. Molecular genetics of autosomal-dominant demyelinating Charcot-Marie-Tooth disease.
    Houlden H, Reilly MM.
    Neuromolecular Med; 2006 Sep; 8(1-2):43-62. PubMed ID: 16775366
    [Abstract] [Full Text] [Related]

  • 8. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.
    Brain; 2004 Jan; 127(Pt 1):154-63. PubMed ID: 14607793
    [Abstract] [Full Text] [Related]

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

  • 10. Autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2): phenotype-genotype correlations in 13 Moroccan families.
    Bouhouche A, Birouk N, Azzedine H, Benomar A, Durosier G, Ente D, Muriel MP, Ruberg M, Slassi I, Yahyaoui M, Dubourg O, Ouazzani R, LeGuern E.
    Brain; 2007 Apr; 130(Pt 4):1062-75. PubMed ID: 17347251
    [Abstract] [Full Text] [Related]

  • 11. The phenotypic manifestations of autosomal recessive axonal Charcot-Marie-Tooth due to a mutation in Lamin A/C gene.
    Chaouch M, Allal Y, De Sandre-Giovannoli A, Vallat JM, Amer-el-Khedoud A, Kassouri N, Chaouch A, Sindou P, Hammadouche T, Tazir M, Lévy N, Grid D.
    Neuromuscul Disord; 2003 Jan; 13(1):60-7. PubMed ID: 12467734
    [Abstract] [Full Text] [Related]

  • 12. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
    Berciano J, García A, Gallardo E, Peeters K, Pelayo-Negro AL, Álvarez-Paradelo S, Gazulla J, Martínez-Tames M, Infante J, Jordanova A.
    J Neurol; 2017 Aug; 264(8):1655-1677. PubMed ID: 28364294
    [Abstract] [Full Text] [Related]

  • 13. Autosomal recessive Charcot-Marie-Tooth neuropathy.
    Espinós C, Calpena E, Martínez-Rubio D, Lupo V.
    Adv Exp Med Biol; 2012 Aug; 724():61-75. PubMed ID: 22411234
    [Abstract] [Full Text] [Related]

  • 14. Autosomal recessive axonal form of Charcot-Marie-Tooth Disease caused by compound heterozygous 3'-splice site and Ser130Cys mutation in the GDAP1 gene.
    Kabzińska D, Kochański A, Drac H, Ryniewicz B, Rowińska-Marcińska K, Hausmanowa-Petrusewicz I.
    Neuropediatrics; 2005 Jun; 36(3):206-9. PubMed ID: 15944907
    [Abstract] [Full Text] [Related]

  • 15. Variability of disease progression in a family with autosomal recessive CMT associated with a S194X and new R310Q mutation in the GDAP1 gene.
    Azzedine H, Ruberg M, Ente D, Gilardeau C, Périé S, Wechsler B, Brice A, LeGuern E, Dubourg O.
    Neuromuscul Disord; 2003 May; 13(4):341-6. PubMed ID: 12868504
    [Abstract] [Full Text] [Related]

  • 16. Autosomal-recessive Charcot-Marie-Tooth diseases.
    Vallat JM, Tazir M, Magdelaine C, Sturtz F, Grid D.
    J Neuropathol Exp Neurol; 2005 May; 64(5):363-70. PubMed ID: 15892292
    [Abstract] [Full Text] [Related]

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

  • 18. [Advances in genetic studies of Charcot-Marie-Tooth disease type 4 (CMT4)].
    Xu Y, Zhang JY, Yang BY, He ZH, Zhang MC, Yu Z, Gu MM.
    Yi Chuan; 2015 Jun; 37(6):501-9. PubMed ID: 26351045
    [Abstract] [Full Text] [Related]

  • 19. A novel mutation in the GDAP1 gene is associated with autosomal recessive Charcot-Marie-Tooth disease in an Amish family.
    Xin B, Puffenberger E, Nye L, Wiznitzer M, Wang H.
    Clin Genet; 2008 Sep; 74(3):274-8. PubMed ID: 18492089
    [Abstract] [Full Text] [Related]

  • 20. Molecular genetics of autosomal-dominant axonal Charcot-Marie-Tooth disease.
    Züchner S, Vance JM.
    Neuromolecular Med; 2006 Sep; 8(1-2):63-74. PubMed ID: 16775367
    [Abstract] [Full Text] [Related]

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