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8. Mutation testing in Charcot-Marie-Tooth neuropathy. Nicholson GA Ann N Y Acad Sci; 1999 Sep; 883():383-8. PubMed ID: 10586262 [TBL] [Abstract][Full Text] [Related]
11. Estimation of the mutation frequencies in Charcot-Marie-Tooth disease type 1 and hereditary neuropathy with liability to pressure palsies: a European collaborative study. Nelis E; Van Broeckhoven C; De Jonghe P; Löfgren A; Vandenberghe A; Latour P; Le Guern E; Brice A; Mostacciuolo ML; Schiavon F; Palau F; Bort S; Upadhyaya M; Rocchi M; Archidiacono N; Mandich P; Bellone E; Silander K; Savontaus ML; Navon R; Goldberg-Stern H; Estivill X; Volpini V; Friedl W; Gal A Eur J Hum Genet; 1996; 4(1):25-33. PubMed ID: 8800924 [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. Correlation between connexin 32 gene mutations and clinical phenotype in X-linked dominant Charcot-Marie-Tooth neuropathy. Ionasescu V; Ionasescu R; Searby C Am J Med Genet; 1996 Jun; 63(3):486-91. PubMed ID: 8737658 [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. 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]
16. Mutations in the connexin 32 gene in X-linked dominant Charcot-Marie-Tooth disease (CMTX1). Fairweather N; Bell C; Cochrane S; Chelly J; Wang S; Mostacciuolo ML; Monaco AP; Haites NE Hum Mol Genet; 1994 Jan; 3(1):29-34. PubMed ID: 8162049 [TBL] [Abstract][Full Text] [Related]
17. X linked Charcot-Marie-Tooth disease (CMTX1): a study of 15 families with 12 highly informative polymorphisms. Cochrane S; Bergoffen J; Fairweather ND; Müller E; Mostacciuolo ML; Monaco AP; Fischbeck KH; Haites NE J Med Genet; 1994 Mar; 31(3):193-6. PubMed ID: 7912286 [TBL] [Abstract][Full Text] [Related]
18. Autosomal dominant Charcot-Marie-Tooth disease type 1A and hereditary neuropathy with liability to pressure palsies: detection of the recombination in Slovene patients and exclusion of the potentially recessive Thr118Met PMP22 point mutation. Leonardis L; Zidar J; Ekici A; Peterlin B; Rautenstrauss B Int J Mol Med; 1998 Feb; 1(2):495-501. PubMed ID: 9852256 [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. 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] [Next] [New Search]