These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

135 related articles for article (PubMed ID: 9600589)

  • 1. 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]  

  • 2. X-linked dominant Charcot-Marie-Tooth neuropathy: clinical, electrophysiological, and morphological phenotype in four families with different connexin32 mutations(1).
    Senderek J; Hermanns B; Bergmann C; Boroojerdi B; Bajbouj M; Hungs M; Ramaekers VT; Quasthoff S; Karch D; Schröder JM
    J Neurol Sci; 1999 Aug; 167(2):90-101. PubMed ID: 10521546
    [TBL] [Abstract][Full Text] [Related]  

  • 3. 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]  

  • 4. 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]  

  • 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. Arginine-164-tryptophan substitution in connexin32 associated with X linked dominant Charcot-Marie-Tooth disease.
    Oterino A; Montón FI; Cabrera VM; Pinto F; Gonzalez A; Lavilla NR
    J Med Genet; 1996 May; 33(5):413-5. PubMed ID: 8733054
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 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; 883():366-82. PubMed ID: 10586261
    [TBL] [Abstract][Full Text] [Related]  

  • 9. Connexin32 gene mutations in X-linked dominant Charcot-Marie-Tooth disease (CMTX1).
    Janssen EA; Kemp S; Hensels GW; Sie OG; de Die-Smulders CE; Hoogendijk JE; de Visser M; Bolhuis PA
    Hum Genet; 1997 Apr; 99(4):501-5. PubMed ID: 9099841
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Connexin mutations in X-linked Charcot-Marie-Tooth disease.
    Bergoffen J; Scherer SS; Wang S; Scott MO; Bone LJ; Paul DL; Chen K; Lensch MW; Chance PF; Fischbeck KH
    Science; 1993 Dec; 262(5142):2039-42. PubMed ID: 8266101
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. Allelic variants in the 5' non-coding region of the connexin32 gene: possible pitfalls in the diagnosis of X linked Charcot-Marie-Tooth neuropathy (CMTX).
    Bergmann C; Zerres K; Rudnik-Schöneborn S; Eggermann T; Schröder JM; Senderek J
    J Med Genet; 2002 Sep; 39(9):e58. PubMed ID: 12205128
    [No Abstract]   [Full Text] [Related]  

  • 13. 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]  

  • 14. A point mutation in the human connexin32 promoter P2 does not correlate with X-linked dominant Charcot-Marie-Tooth neuropathy in Germany.
    Bergmann C; Schröder JM; Rudnik-Schöneborn S; Zerres K; Senderek J
    Brain Res Mol Brain Res; 2001 Mar; 88(1-2):183-5. PubMed ID: 11295246
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Linkage and mutation analysis of Charcot-Marie-Tooth neuropathy type 2 families with chromosomes 1p35-p36 and Xq13.
    Timmerman V; De Jonghe P; Spoelders P; Simokovic S; Löfgren A; Nelis E; Vance J; Martin JJ; Van Broeckhoven C
    Neurology; 1996 May; 46(5):1311-8. PubMed ID: 8628473
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Missense mutation (R15W) of the connexin32 gene in a family with X chromosomal Charcot-Marie-Tooth neuropathy with only female family members affected.
    Wicklein EM; Orth U; Gal A; Kunze K
    J Neurol Neurosurg Psychiatry; 1997 Sep; 63(3):379-81. PubMed ID: 9328258
    [TBL] [Abstract][Full Text] [Related]  

  • 17. Null mutations of connexin32 in patients with X-linked Charcot-Marie-Tooth disease.
    Bruzzone R; White TW; Scherer SS; Fischbeck KH; Paul DL
    Neuron; 1994 Nov; 13(5):1253-60. PubMed ID: 7946361
    [TBL] [Abstract][Full Text] [Related]  

  • 18. New connexin32 mutations associated with X-linked Charcot-Marie-Tooth disease.
    Bone LJ; Dahl N; Lensch MW; Chance PF; Kelly T; Le Guern E; Magi S; Parry G; Shapiro H; Wang S
    Neurology; 1995 Oct; 45(10):1863-6. PubMed ID: 7477983
    [TBL] [Abstract][Full Text] [Related]  

  • 19. Six novel connexin32 (GJB1) mutations in X-linked Charcot-Marie-Tooth disease.
    Lee MJ; Nelson I; Houlden H; Sweeney MG; Hilton-Jones D; Blake J; Wood NW; Reilly MM
    J Neurol Neurosurg Psychiatry; 2002 Sep; 73(3):304-6. PubMed ID: 12185164
    [TBL] [Abstract][Full Text] [Related]  

  • 20. 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]  

    [Next]    [New Search]
    of 7.