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Journal Abstract Search

341 related items for PubMed ID: 15944907

  • 1. 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
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  • 2. 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
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  • 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 15; 74(3):274-8. PubMed ID: 18492089
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  • 4. 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
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  • 6. 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 15; 131(Pt 11):3051-61. PubMed ID: 18812441
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  • 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
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  • 11. [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 15; 21(3):207-10. PubMed ID: 15192818
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  • 12. 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 15; 60(4):598-604. PubMed ID: 12707075
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  • 13. A French family with Charcot-Marie-Tooth disease related to simultaneous heterozygous MFN2 and GDAP1 mutations.
    Vital A, Latour P, Sole G, Ferrer X, Rouanet M, Tison F, Vital C, Goizet C.
    Neuromuscul Disord; 2012 Aug 15; 22(8):735-41. PubMed ID: 22546700
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  • 14. 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
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  • 15. 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 15; 130(Pt 4):1062-75. PubMed ID: 17347251
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  • 19. 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
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