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Journal Abstract Search


519 related items for PubMed ID: 16924012

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  • 5. The p.R1109X mutation in SH3TC2 gene is predominant in Spanish Gypsies with Charcot-Marie-Tooth disease type 4.
    Claramunt R, Sevilla T, Lupo V, Cuesta A, Millán JM, Vílchez JJ, Palau F, Espinós C.
    Clin Genet; 2007 Apr; 71(4):343-9. PubMed ID: 17470135
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  • 6. Genetic, cytogenetic and physical refinement of the autosomal recessive CMT linked to 5q31-q33: exclusion of candidate genes including EGR1.
    Guilbot A, Ravisé N, Bouhouche A, Coullin P, Birouk N, Maisonobe T, Kuntzer T, Vial C, Grid D, Brice A, LeGuern E.
    Eur J Hum Genet; 1999 Dec; 7(8):849-59. PubMed ID: 10602360
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  • 7. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
    Miltenberger-Miltenyi G, Janecke AR, Wanschitz JV, Timmerman V, Windpassinger C, Auer-Grumbach M, Löscher WN.
    Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
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  • 8. 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. 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 14; 62(8):1201-7. PubMed ID: 16087758
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  • 10. High frequency of SH3TC2 mutations in Czech HMSN I patients.
    Laššuthová P, Mazanec R, Vondráček P, Sišková D, Haberlová J, Sabová J, Seeman P.
    Clin Genet; 2011 Oct 14; 80(4):334-45. PubMed ID: 21291453
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  • 13. 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 14; 130(Pt 4):1062-75. PubMed ID: 17347251
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  • 14. Characteristics of clinical and electrophysiological pattern of Charcot-Marie-Tooth 4C.
    Yger M, Stojkovic T, Tardieu S, Maisonobe T, Brice A, Echaniz-Laguna A, Alembik Y, Girard S, Cazeneuve C, Leguern E, Dubourg O.
    J Peripher Nerv Syst; 2012 Mar 14; 17(1):112-22. PubMed ID: 22462672
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  • 15. 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 14; 8(4):461-8. PubMed ID: 11562788
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  • 16. Clinical, in silico, and experimental evidence for pathogenicity of two novel splice site mutations in the SH3TC2 gene.
    Laššuthová P, Gregor M, Sarnová L, Machalová E, Sedláček R, Seeman P.
    J Neurogenet; 2012 Sep 14; 26(3-4):413-20. PubMed ID: 22950825
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  • 18. Novel mutations in SH3TC2 in a young Japanese girl with Charcot-Marie-Tooth disease type 4C.
    Ichikawa K, Numasawa K, Takeshita S, Hashiguchi A, Takashima H.
    Pediatr Int; 2016 Nov 14; 58(11):1252-1254. PubMed ID: 27882734
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  • 19. Charcot-Marie-Tooth disease with intermediate motor nerve conduction velocities: characterization of 14 Cx32 mutations in 35 families.
    Rouger H, LeGuern E, Birouk N, Gouider R, Tardieu S, Plassart E, Gugenheim M, Vallat JM, Louboutin JP, Bouche P, Agid Y, Brice A.
    Hum Mutat; 1997 Nov 14; 10(6):443-52. PubMed ID: 9401007
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  • 20. 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 14; 127(Pt 1):154-63. PubMed ID: 14607793
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