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7. 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]
8. 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]
9. 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]
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. 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]
13. Point mutations of the connexin32 (GJB1) gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Ionasescu V; Searby C; Ionasescu R Hum Mol Genet; 1994 Feb; 3(2):355-8. PubMed ID: 8004109 [TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Mutations of the noncoding region of the connexin32 gene in X-linked dominant Charcot-Marie-Tooth neuropathy. Ionasescu VV; Searby C; Ionasescu R; Neuhaus IM; Werner R Neurology; 1996 Aug; 47(2):541-4. PubMed ID: 8757034 [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]