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883 related items for PubMed ID: 17347251

  • 1. 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]

  • 2. 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]

  • 3. 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]

  • 4. 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]

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

  • 6. Vocal cord and diaphragm paralysis, as clinical features of a French family with autosomal recessive Charcot-Marie-Tooth disease, associated with a new mutation in the GDAP1 gene.
    Stojkovic T, Latour P, Viet G, de Seze J, Hurtevent JF, Vandenberghe A, Vermersch P.
    Neuromuscul Disord; 2004 Apr; 14(4):261-4. PubMed ID: 15019704
    [Abstract] [Full Text] [Related]

  • 7. Phenotypical features of the p.R120W mutation in the GDAP1 gene causing autosomal dominant Charcot-Marie-Tooth disease.
    Sivera R, Espinós C, Vílchez JJ, Mas F, Martínez-Rubio D, Chumillas MJ, Mayordomo F, Muelas N, Bataller L, Palau F, Sevilla T.
    J Peripher Nerv Syst; 2010 Dec; 15(4):334-44. PubMed ID: 21199105
    [Abstract] [Full Text] [Related]

  • 8. Clinical, electrophysiological and genetic studies of two families with mutations in the GDAP1 gene.
    Rougeot C, Chabrier S, Camdessanche JP, Prieur F, d'Anjou MC, Latour P.
    Neuropediatrics; 2008 Jun; 39(3):184-7. PubMed ID: 18991200
    [Abstract] [Full Text] [Related]

  • 9. 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(5):301-6. PubMed ID: 15099588
    [Abstract] [Full Text] [Related]

  • 10. 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]

  • 11. Neurophysiology and molecular genetics of Charcot-Marie-Tooth type 1 neuropathy in Croatian children: follow-up study.
    Barisić N, Mihatov I.
    Croat Med J; 2000 Sep 14; 41(3):306-13. PubMed ID: 10962051
    [Abstract] [Full Text] [Related]

  • 12. The GST domain of GDAP1 is a frequent target of mutations in the dominant form of axonal Charcot Marie Tooth type 2K.
    Crimella C, Tonelli A, Airoldi G, Baschirotto C, D'Angelo MG, Bonato S, Losito L, Trabacca A, Bresolin N, Bassi MT.
    J Med Genet; 2010 Oct 14; 47(10):712-6. PubMed ID: 20685671
    [Abstract] [Full Text] [Related]

  • 13. 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]

  • 14. 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 14; 13(4):341-6. PubMed ID: 12868504
    [Abstract] [Full Text] [Related]

  • 15. The gene encoding ganglioside-induced differentiation-associated protein 1 is mutated in axonal Charcot-Marie-Tooth type 4A disease.
    Cuesta A, Pedrola L, Sevilla T, García-Planells J, Chumillas MJ, Mayordomo F, LeGuern E, Marín I, Vílchez JJ, Palau F.
    Nat Genet; 2002 Jan 14; 30(1):22-5. PubMed ID: 11743580
    [Abstract] [Full Text] [Related]

  • 16. Mild early onset axonal Charcot-Marie-Tooth disease not linked to other axonal Charcot-Marie-Tooth loci.
    Kochanski A, Kennerson M, Kawulak M, Ryniewicz B, Rowinska-Marcinska K, Walizada G, Nowakowski A, Hausmanowa-Petrusewicz I, Nicholson GA.
    Neurology; 2005 Feb 08; 64(3):533-5. PubMed ID: 15699389
    [Abstract] [Full Text] [Related]

  • 17. CMT4A: identification of a Hispanic GDAP1 founder mutation.
    Boerkoel CF, Takashima H, Nakagawa M, Izumo S, Armstrong D, Butler I, Mancias P, Papasozomenos SC, Stern LZ, Lupski JR.
    Ann Neurol; 2003 Mar 08; 53(3):400-5. PubMed ID: 12601710
    [Abstract] [Full Text] [Related]

  • 18. 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 08; 128(Pt 10):2304-14. PubMed ID: 16014653
    [Abstract] [Full Text] [Related]

  • 19. 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 08; 72(Pt 5):590-7. PubMed ID: 18549403
    [Abstract] [Full Text] [Related]

  • 20. 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 08; 74(3):274-8. PubMed ID: 18492089
    [Abstract] [Full Text] [Related]

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