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Journal Abstract Search

710 related items for PubMed ID: 18492089

  • 1. 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]

  • 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
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  • 3. 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
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  • 4. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
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  • 5. 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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  • 6. [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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  • 7. 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
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  • 9. 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 15; 14(4):261-4. PubMed ID: 15019704
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  • 10. 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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  • 16. 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 15; 62(8):1201-7. PubMed ID: 16087758
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  • 19. GDAP1, the protein causing Charcot-Marie-Tooth disease type 4A, is expressed in neurons and is associated with mitochondria.
    Pedrola L, Espert A, Wu X, Claramunt R, Shy ME, Palau F.
    Hum Mol Genet; 2005 Apr 15; 14(8):1087-94. PubMed ID: 15772096
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