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Journal Abstract Search


168 related items for PubMed ID: 20942588

  • 1. Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
    Li Q, Chen M, Liu K, Lin X, Chui D.
    Int J Neurosci; 2010 Nov; 120(11):731-4. PubMed ID: 20942588
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  • 2. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
    Qiao XH, Li YX, Chang XZ, Luan XH, Chen B, Bu DF, Yuan Y.
    Zhonghua Yi Xue Za Zhi; 2009 Dec 22; 89(47):3328-31. PubMed ID: 20193560
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  • 3. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
    Beauvais K, Furby A, Latour P.
    Neuromuscul Disord; 2006 Jan 22; 16(1):14-8. PubMed ID: 16373087
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  • 4. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
    Vondracek P, Seeman P, Hermanova M, Fajkusova L.
    Muscle Nerve; 2005 Feb 22; 31(2):252-5. PubMed ID: 15468313
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  • 8. Charcot-Marie-Tooth type X: A novel mutation in the Cx32 gene with central conduction slowing.
    Seeman P, Mazanec R, Ctvrtecková M, Smilková D.
    Int J Mol Med; 2001 Oct 22; 8(4):461-8. PubMed ID: 11562788
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  • 9. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
    Huttner IG, Kennerson ML, Reddel SW, Radovanovic D, Nicholson GA.
    Neurology; 2006 Dec 12; 67(11):2016-21. PubMed ID: 17159110
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  • 10. 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 12; 131(Pt 11):3051-61. PubMed ID: 18812441
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  • 11. New mutation of gap junction protein beta1 (GJB1) gene in X-linked hereditary motor and sensory neuropathy.
    Umehara F, Arimura Y, Osame M, Minato S, Nakahara K.
    J Peripher Nerv Syst; 2006 Mar 12; 11(1):96-7. PubMed ID: 16519791
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  • 12. A novel 9-bp insertion in the GJB1 gene causing a mild form of X-linked CMT with late onset.
    Vazza G, Merlini L, Bertolin C, Zortea M, Mostacciuolo ML.
    Neuromuscul Disord; 2006 Dec 12; 16(12):878-81. PubMed ID: 17052905
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  • 13. A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
    Chen SD, Li ZX, Guan YT, Zhou XJ, Jiang JM, Hao Y.
    Muscle Nerve; 2011 Jun 12; 43(6):887-92. PubMed ID: 21607969
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  • 16. Persistent CNS dysfunction in a boy with CMT1X.
    Siskind C, Feely SM, Bernes S, Shy ME, Garbern JY.
    J Neurol Sci; 2009 Apr 15; 279(1-2):109-13. PubMed ID: 19193385
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  • 20. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
    Stancanelli C, Taioli F, Testi S, Fabrizi GM, Arena MG, Granata F, Russo M, Gentile L, Vita G, Mazzeo A.
    J Peripher Nerv Syst; 2012 Dec 15; 17(4):407-11. PubMed ID: 23279342
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