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6. 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]
7. 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]
9. 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]
10. 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; 8(4):461-8. PubMed ID: 11562788 [TBL] [Abstract][Full Text] [Related]
11. X-linked Charcot-Marie-Tooth disease: molecular analysis of interfamilial variability. Niewiadomski LA; Kelly TE Am J Med Genet; 1996 Dec; 66(2):175-8. PubMed ID: 8958325 [TBL] [Abstract][Full Text] [Related]
12. 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]
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. 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]
15. 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]
16. 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]
17. 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]
18. Mutation in connexin 32 causes Charcot-Marie-Tooth disease in a large Chinese family. Guo F; Shi Y; Lin Y; Liu X; Liu B; Liu Y; Yang Y; Lu F; Ma S; Yang Z Muscle Nerve; 2010 Nov; 42(5):715-21. PubMed ID: 20730878 [TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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] [Next] [New Search]