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369 related items for PubMed ID: 14607793

  • 1. 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]

  • 2. 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]

  • 3. 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; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 4. Phenotypical features of a Moroccan family with autosomal recessive Charcot-Marie-Tooth disease associated with the S194X mutation in the GDAP1 gene.
    Birouk N, Azzedine H, Dubourg O, Muriel MP, Benomar A, Hamadouche T, Maisonobe T, Ouazzani R, Brice A, Yahyaoui M, Chkili T, Le Guern E.
    Arch Neurol; 2003 Apr; 60(4):598-604. PubMed ID: 12707075
    [Abstract] [Full Text] [Related]

  • 5. Genotype/phenotype correlations in X-linked dominant Charcot-Marie-Tooth disease.
    Hahn AF, Bolton CF, White CM, Brown WF, Tuuha SE, Tan CC, Ainsworth PJ.
    Ann N Y Acad Sci; 1999 Sep 14; 883():366-82. PubMed ID: 10586261
    [Abstract] [Full Text] [Related]

  • 6. Clinical and pathological phenotype of the original family with Charcot-Marie-Tooth type 1B: a 20-year study.
    Bird TD, Kraft GH, Lipe HP, Kenney KL, Sumi SM.
    Ann Neurol; 1997 Apr 14; 41(4):463-9. PubMed ID: 9124803
    [Abstract] [Full Text] [Related]

  • 7. 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 14; 264(8):1655-1677. PubMed ID: 28364294
    [Abstract] [Full Text] [Related]

  • 8. Clinical and electrophysiological characteristics of autosomal recessive axonal Charcot-Marie-Tooth disease (ARCMT2B) that maps to chromosome 19q13.3.
    Berghoff C, Berghoff M, Leal A, Morera B, Barrantes R, Reis A, Neundörfer B, Rautenstrauss B, Del Valle G, Heuss D.
    Neuromuscul Disord; 2004 May 14; 14(5):301-6. PubMed ID: 15099588
    [Abstract] [Full Text] [Related]

  • 9. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan 14; 46(1):1-18. PubMed ID: 16541790
    [Abstract] [Full Text] [Related]

  • 10. 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 14; 13(1):60-7. PubMed ID: 12467734
    [Abstract] [Full Text] [Related]

  • 11. Founder effect and estimation of the age of the c.892C>T (p.Arg298Cys) mutation in LMNA associated to Charcot-Marie-Tooth subtype CMT2B1 in families from North Western Africa.
    Hamadouche T, Poitelon Y, Genin E, Chaouch M, Tazir M, Kassouri N, Nouioua S, Chaouch A, Boccaccio I, Benhassine T, De Sandre-Giovannoli A, Grid D, Lévy N, Delague V.
    Ann Hum Genet; 2008 Sep 14; 72(Pt 5):590-7. PubMed ID: 18549403
    [Abstract] [Full Text] [Related]

  • 12. 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 14; 36(3):206-9. PubMed ID: 15944907
    [Abstract] [Full Text] [Related]

  • 13. Mutations in the LMNA gene do not cause axonal CMT in Czech patients.
    Lassuthová P, Baránková L, Haberlová J, Mazanec R, Wallace A, Huehne K, Rautenstrauss B, Seeman P.
    J Hum Genet; 2009 Jun 14; 54(6):365-8. PubMed ID: 19424285
    [Abstract] [Full Text] [Related]

  • 14. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.
    Brain; 2006 Aug 14; 129(Pt 8):2103-18. PubMed ID: 16835246
    [Abstract] [Full Text] [Related]

  • 15. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
    Tang B, Liu X, Zhao G, Luo W, Xia K, Pan Q, Cai F, Hu Z, Zhang C, Chen B, Zhang F, Shen L, Zhang R, Jiang H.
    Arch Neurol; 2005 Aug 14; 62(8):1201-7. PubMed ID: 16087758
    [Abstract] [Full Text] [Related]

  • 16. Phenotypic spectrum of disorders associated with glycyl-tRNA synthetase mutations.
    Sivakumar K, Kyriakides T, Puls I, Nicholson GA, Funalot B, Antonellis A, Sambuughin N, Christodoulou K, Beggs JL, Zamba-Papanicolaou E, Ionasescu V, Dalakas MC, Green ED, Fischbeck KH, Goldfarb LG.
    Brain; 2005 Oct 14; 128(Pt 10):2304-14. PubMed ID: 16014653
    [Abstract] [Full Text] [Related]

  • 17. 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 14; 131(Pt 11):3051-61. PubMed ID: 18812441
    [Abstract] [Full Text] [Related]

  • 18. Spine deformities in Charcot-Marie-Tooth 4C caused by SH3TC2 gene mutations.
    Azzedine H, Ravisé N, Verny C, Gabrëels-Festen A, Lammens M, Grid D, Vallat JM, Durosier G, Senderek J, Nouioua S, Hamadouche T, Bouhouche A, Guilbot A, Stendel C, Ruberg M, Brice A, Birouk N, Dubourg O, Tazir M, LeGuern E.
    Neurology; 2006 Aug 22; 67(4):602-6. PubMed ID: 16924012
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 70(3):726-36. PubMed ID: 11799477
    [Abstract] [Full Text] [Related]

  • 20. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
    Arch Neurol; 2007 Jul 22; 64(7):966-70. PubMed ID: 17620486
    [Abstract] [Full Text] [Related]

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