BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

170 related articles for article (PubMed ID: 9541114)

  • 1. The first de novo mutation of the connexin 32 gene associated with X linked Charcot-Marie-Tooth disease.
    Meggouh F; Benomar A; Rouger H; Tardieu S; Birouk N; Tassin J; Barhoumi C; Yahyaoui M; Chkili T; Brice A; LeGuern E
    J Med Genet; 1998 Mar; 35(3):251-2. PubMed ID: 9541114
    [TBL] [Abstract][Full Text] [Related]  

  • 2. Genetic epidemiology of Charcot-Marie-Tooth disease.
    Braathen GJ
    Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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; 10(6):443-52. PubMed ID: 9401007
    [TBL] [Abstract][Full Text] [Related]  

  • 4. A new de novo mutation of the connexin-32 gene in a patient with X-linked Charcot-Marie-Tooth type 1 disease.
    Di Iorio G; Cappa V; Ciccodicola A; Sampaolo S; Ammendola A; Sanges G; Giugliano R; D'Urso M
    Neurol Sci; 2000 Apr; 21(2):109-12. PubMed ID: 10938190
    [TBL] [Abstract][Full Text] [Related]  

  • 5. X-linked Charcot-Marie-Tooth disease with connexin 32 mutations: clinical and electrophysiologic study.
    Birouk N; LeGuern E; Maisonobe T; Rouger H; Gouider R; Tardieu S; Gugenheim M; Routon MC; Léger JM; Agid Y; Brice A; Bouche P
    Neurology; 1998 Apr; 50(4):1074-82. PubMed ID: 9566397
    [TBL] [Abstract][Full Text] [Related]  

  • 6. X-linked dominant Charcot-Marie-Tooth neuropathy (CMTX): new mutations in the connexin32 gene.
    Ressot C; Latour P; Blanquet-Grossard F; Sturtz F; Duthel S; Battin J; Corbillon E; Ollagnon E; Serville F; Vandenberghe A; Dautigny A; Pham-Dinh D
    Hum Genet; 1996 Aug; 98(2):172-5. PubMed ID: 8698335
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Clinical, electrophysiological and molecular genetic characteristics of 93 patients with X-linked Charcot-Marie-Tooth disease.
    Dubourg O; Tardieu S; Birouk N; Gouider R; Léger JM; Maisonobe T; Brice A; Bouche P; LeGuern E
    Brain; 2001 Oct; 124(Pt 10):1958-67. PubMed ID: 11571214
    [TBL] [Abstract][Full Text] [Related]  

  • 8. [X-linked recessive Charcot-Marie-Tooth disease and Cx32 gene mutation].
    Luo W; Tang B; Xiao J
    Zhonghua Nei Ke Za Zhi; 2001 Aug; 40(8):543-5. PubMed ID: 11718056
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Screening for connexin 32 mutations in Charcot-Marie-Tooth disease families with possible X-linked inheritance.
    Silander K; Meretoja P; Pihko H; Juvonen V; Issakainen J; Aula P; Savontaus ML
    Hum Genet; 1997 Sep; 100(3-4):391-7. PubMed ID: 9272161
    [TBL] [Abstract][Full Text] [Related]  

  • 10. New point mutations and deletions of the connexin 32 gene in X-linked Charcot-Marie-Tooth neuropathy.
    Ionasescu V; Searby C; Ionasescu R; Meschino W
    Neuromuscul Disord; 1995 Jul; 5(4):297-9. PubMed ID: 7580242
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Clinical and electrophysiological studies of a family with probable X-linked dominant Charcot-Marie-Tooth neuropathy and ptosis.
    Wu T; Wang HL; Chu CC; Yu JM; Chen JY; Huang CC
    Chang Gung Med J; 2004 Jul; 27(7):489-500. PubMed ID: 15508871
    [TBL] [Abstract][Full Text] [Related]  

  • 12. [PCR in the gene diagnosis of Charcot-Marie-Tooth disease].
    Xiao J; Tang B; Xia J
    Zhonghua Yi Xue Za Zhi; 2001 Feb; 81(3):138-41. PubMed ID: 11798863
    [TBL] [Abstract][Full Text] [Related]  

  • 13. Central visual, acoustic, and motor pathway involvement in a Charcot-Marie-Tooth family with an Asn205Ser mutation in the connexin 32 gene.
    Bähr M; Andres F; Timmerman V; Nelis ME; Van Broeckhoven C; Dichgans J
    J Neurol Neurosurg Psychiatry; 1999 Feb; 66(2):202-6. PubMed ID: 10071100
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Efficient neurophysiologic selection of X-linked Charcot-Marie-Tooth families: ten novel mutations.
    Nicholson GA; Yeung L; Corbett A
    Neurology; 1998 Nov; 51(5):1412-6. PubMed ID: 9818870
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Voltage opens unopposed gap junction hemichannels formed by a connexin 32 mutant associated with X-linked Charcot-Marie-Tooth disease.
    Abrams CK; Bennett MV; Verselis VK; Bargiello TA
    Proc Natl Acad Sci U S A; 2002 Mar; 99(6):3980-4. PubMed ID: 11891346
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Mutation screening of Cx32 in Han Chinese patients with Charcot-Marie-Tooth disease.
    Zhang RX; Luo W; Zi XH; Xia K; Cai F; Xiao JF; Zhao GH; Zhang FF; Shen L; Jiang H; Tang BS
    Beijing Da Xue Xue Bao Yi Xue Ban; 2005 Feb; 37(1):68-71. PubMed ID: 15719046
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Studies in transgenic mice indicate a loss of connexin32 function in X-linked Charcot-Marie-Tooth disease.
    Abel A; Bone LJ; Messing A; Scherer SS; Fischbeck KH
    J Neuropathol Exp Neurol; 1999 Jul; 58(7):702-10. PubMed ID: 10411340
    [TBL] [Abstract][Full Text] [Related]  

  • 18. X-linked dominant Charcot-Marie-Tooth disease: nerve biopsies allow morphological evaluation and detection of connexin32 mutations (Arg15Trp, Arg22Gln).
    Senderek J; Bergmann C; Quasthoff S; Ramaekers VT; Schröder JM
    Acta Neuropathol; 1998 May; 95(5):443-9. PubMed ID: 9600589
    [TBL] [Abstract][Full Text] [Related]  

  • 19. [A new mutation in the connexin 32 gene was found in Charcot- Marie-Tooth disease in Chinese patients].
    Da Y; Shen D
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2000 Oct; 17(5):316-8. PubMed ID: 11024208
    [TBL] [Abstract][Full Text] [Related]  

  • 20. Mutation analysis of the connexin 32 (Cx32) gene in Charcot-Marie-Tooth neuropathy type 1: identification of five new mutations.
    Nelis E; Simokovic S; Timmerman V; Löfgren A; Backhovens H; De Jonghe P; Martin JJ; Van Broeckhoven C
    Hum Mutat; 1997; 9(1):47-52. PubMed ID: 8990008
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 9.