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Journal Abstract Search

493 related items for PubMed ID: 23796487

  • 1.
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  • 2. 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; 62(8):1201-7. PubMed ID: 16087758
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  • 4. 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; 129(Pt 8):2103-18. PubMed ID: 16835246
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  • 5. [Molecular genetics of inherited neuropathies].
    Takashima H.
    Rinsho Shinkeigaku; 2006 Jan; 46(1):1-18. PubMed ID: 16541790
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  • 7. A novel HSPB1 mutation in an Italian patient with CMT2/dHMN phenotype.
    Luigetti M, Fabrizi GM, Madia F, Ferrarini M, Conte A, Del Grande A, Tasca G, Tonali PA, Sabatelli M.
    J Neurol Sci; 2010 Nov 15; 298(1-2):114-7. PubMed ID: 20870250
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  • 9. 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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  • 16. Mutations in the MORC2 gene cause axonal Charcot-Marie-Tooth disease.
    Sevilla T, Lupo V, Martínez-Rubio D, Sancho P, Sivera R, Chumillas MJ, García-Romero M, Pascual-Pascual SI, Muelas N, Dopazo J, Vílchez JJ, Palau F, Espinós C.
    Brain; 2016 Jan 15; 139(Pt 1):62-72. PubMed ID: 26497905
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  • 17. A cohort study of Han Chinese MFN2-related Charcot-Marie-Tooth 2A.
    Lv H, Wang L, Zhang W, Wang Z, Zuo Y, Liu J, Yuan Y.
    J Neurol Sci; 2015 Nov 15; 358(1-2):153-7. PubMed ID: 26382835
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  • 18. Phenotypic variability in autosomal recessive axonal Charcot-Marie-Tooth disease due to the R298C mutation in lamin A/C.
    Tazir M, Azzedine H, Assami S, Sindou P, Nouioua S, Zemmouri R, Hamadouche T, Chaouch M, Feingold J, Vallat JM, Leguern E, Grid D.
    Brain; 2004 Jan 15; 127(Pt 1):154-63. PubMed ID: 14607793
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  • 19. Mild phenotype of Charcot-Marie-Tooth disease type 4B1.
    Murakami T, Kutoku Y, Nishimura H, Hayashi M, Abe A, Hayasaka K, Sunada Y.
    J Neurol Sci; 2013 Nov 15; 334(1-2):176-9. PubMed ID: 23962696
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  • 20. 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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