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Journal Abstract Search

199 related items for PubMed ID: 12868504

  • 1. 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]

  • 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. 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]

  • 4. 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]

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

  • 6. 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]

  • 7. A novel Met116Thr mutation in the GDAP1 gene in a Polish family with the axonal recessive Charcot-Marie-Tooth type 4 disease.
    Kabzińska D, Kochański A, Drac H, Rowińska-Marcińska K, Ryniewicz B, Pedrola L, Palau F, Hausmanowa-Petrusewicz I.
    J Neurol Sci; 2006 Feb 15; 241(1-2):7-11. PubMed ID: 16343542
    [Abstract] [Full Text] [Related]

  • 8. 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 15; 126(Pt 9):2023-33. PubMed ID: 12821518
    [Abstract] [Full Text] [Related]

  • 9. 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; 15(4):334-44. PubMed ID: 21199105
    [Abstract] [Full Text] [Related]

  • 10. 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 15; 36(3):206-9. PubMed ID: 15944907
    [Abstract] [Full Text] [Related]

  • 11. GDAP1 mutations in Czech families with early-onset CMT.
    Baránková L, Vyhnálková E, Züchner S, Mazanec R, Sakmaryová I, Vondrácek P, Merlini L, Bojar M, Nelis E, De Jonghe P, Seeman P.
    Neuromuscul Disord; 2007 Jun 15; 17(6):482-9. PubMed ID: 17433678
    [Abstract] [Full Text] [Related]

  • 12. Mitochondrial dysfunction and pathophysiology of Charcot-Marie-Tooth disease involving GDAP1 mutations.
    Cassereau J, Chevrollier A, Gueguen N, Desquiret V, Verny C, Nicolas G, Dubas F, Amati-Bonneau P, Reynier P, Bonneau D, Procaccio V.
    Exp Neurol; 2011 Jan 15; 227(1):31-41. PubMed ID: 20849849
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 47(10):712-6. PubMed ID: 20685671
    [Abstract] [Full Text] [Related]

  • 14. 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 15; 39(3):184-7. PubMed ID: 18991200
    [Abstract] [Full Text] [Related]

  • 15. Two recessive intermediate Charcot-Marie-Tooth patients with GDAP1 mutations.
    Chung KW, Hyun YS, Lee HJ, Jung HK, Koo H, Yoo JH, Kim SB, Park CI, Kim HN, Choi BO.
    J Peripher Nerv Syst; 2011 Jun 15; 16(2):143-6. PubMed ID: 21692914
    [Abstract] [Full Text] [Related]

  • 16. 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]

  • 17. [Mutation analysis of ganglioside-induced differentiation associated protein-1 gene in Chinese Charcot-Marie-Tooth disease].
    Zhang RX, Tang BS, Zi XH, Luo W, Xia K, Pan Q, Long ZG, Hu ZM, Li XB.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2004 Jun 22; 21(3):207-10. PubMed ID: 15192818
    [Abstract] [Full Text] [Related]

  • 18. 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 22; 131(Pt 11):3051-61. PubMed ID: 18812441
    [Abstract] [Full Text] [Related]

  • 19. 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 22; 30(1):22-5. PubMed ID: 11743580
    [Abstract] [Full Text] [Related]

  • 20. [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 22; 189(1):55-68; discussion 68-9. PubMed ID: 16119880
    [Abstract] [Full Text] [Related]

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