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Journal Abstract Search

339 related items for PubMed ID: 17620124

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  • 3. [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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  • 5. 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
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  • 9. [X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].
    Kobari M, Irie J, Takizawa K, Yoshihara T, Sobue G.
    Rinsho Shinkeigaku; 2000 Sep 14; 40(9):896-9. PubMed ID: 11257785
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  • 10. 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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  • 13. Early onset severe and late-onset mild Charcot-Marie-Tooth disease with mitofusin 2 (MFN2) mutations.
    Chung KW, Kim SB, Park KD, Choi KG, Lee JH, Eun HW, Suh JS, Hwang JH, Kim WK, Seo BC, Kim SH, Son IH, Kim SM, Sunwoo IN, Choi BO.
    Brain; 2006 Aug 15; 129(Pt 8):2103-18. PubMed ID: 16835246
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  • 16. 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 15; 16(12):878-81. PubMed ID: 17052905
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  • 17. 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 15; 120(11):731-4. PubMed ID: 20942588
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  • 19. 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 15; 31(2):252-5. PubMed ID: 15468313
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  • 20. X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability.
    Niewiadomski LA, Kelly TE.
    Am J Med Genet; 1996 Dec 11; 66(2):175-8. PubMed ID: 8958325
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