105 related articles for article (PubMed ID: 11024208)
21. X-linked Charcot-Marie-Tooth disease caused by a novel point mutation in the connexin-32 gene.
Ma W; Farrukh Nizam M; Grewal RP
Neurol Sci; 2002 Oct; 23(4):195-7. PubMed ID: 12536289
[TBL] [Abstract][Full Text] [Related]
22. [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]
23. A novel connexin 32 missense mutation (E208G) causing Charcot-Marie-Tooth disease.
Kochanski A; Lofgren A; Jedrzejowska H; Ryniewicz B; Czarny-Ratajczak M; Barciszewska A; Samocko J; Hausmanowa-Petrusewicz I; De Jonghe P; Timmerman V; Latos-Bielenska A
Hum Mutat; 2001 Feb; 17(2):157. PubMed ID: 11180613
[No Abstract] [Full Text] [Related]
24. X-linked Charcot-Marie-Tooth disease: phenotypic expression of a novel mutation Ile127Ser in the GJB1 (connexin 32) gene.
Vondracek P; Seeman P; Hermanova M; Fajkusova L
Muscle Nerve; 2005 Feb; 31(2):252-5. PubMed ID: 15468313
[TBL] [Abstract][Full Text] [Related]
25. 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]
26. A family with X-linked dominant Charcot-Marie-Tooth caused by a connexin32 mutation.
Verhelst HE; Lofgren A; Van Coster RN
Eur J Paediatr Neurol; 2000; 4(5):235-8. PubMed ID: 11030070
[TBL] [Abstract][Full Text] [Related]
27. Charcot-Marie-Tooth disease type I and related demyelinating neuropathies: Mutation analysis in a large cohort of Italian families.
Mostacciuolo ML; Righetti E; Zortea M; Bosello V; Schiavon F; Vallo L; Merlini L; Siciliano G; Fabrizi GM; Rizzuto N; Milani M; Baratta S; Taroni F
Hum Mutat; 2001; 18(1):32-41. PubMed ID: 11438991
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. CMT1X phenotypes represent loss of GJB1 gene function.
Shy ME; Siskind C; Swan ER; Krajewski KM; Doherty T; Fuerst DR; Ainsworth PJ; Lewis RA; Scherer SS; Hahn AF
Neurology; 2007 Mar; 68(11):849-55. PubMed ID: 17353473
[TBL] [Abstract][Full Text] [Related]
30. Phenotypes of X-linked Charcot-Marie-Tooth disease and altered trafficking of mutant connexin 32 (GJB1).
Matsuyama W; Nakagawa M; Moritoyo T; Takashima H; Umehara F; Hirata K; Suehara M; Osame M
J Hum Genet; 2001; 46(6):307-13. PubMed ID: 11393532
[TBL] [Abstract][Full Text] [Related]
31. Two novel connexin32 mutations cause early onset X-linked Charcot-Marie-Tooth disease.
Braathen GJ; Sand JC; Bukholm G; Russell MB
BMC Neurol; 2007 Jul; 7():19. PubMed ID: 17620124
[TBL] [Abstract][Full Text] [Related]
32. Clinical and molecular analysis of X-linked Charcot-Marie-Tooth disease type 1 in Spanish population.
Casasnovas C; Banchs I; Corral J; Martínez-Matos JA; Volpini V
Clin Genet; 2006 Dec; 70(6):516-23. PubMed ID: 17100997
[TBL] [Abstract][Full Text] [Related]
33. [Missense mutations of exons 14 and 18 of Wilson's disease gene in Chinese patients].
Wu Z; Wang N; Murong S; Lin M
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 1999 Apr; 16(2):91-93. PubMed ID: 10200362
[TBL] [Abstract][Full Text] [Related]
34. Mutation screening of the N-myc downstream-regulated gene 1 (NDRG1) in patients with Charcot-Marie-Tooth Disease.
Hunter M; Bernard R; Freitas E; Boyer A; Morar B; Martins IJ; Tournev I; Jordanova A; Guergelcheva V; Ishpekova B; Kremensky I; Nicholson G; Schlotter B; Lochmüller H; Voit T; Colomer J; Thomas PK; Levy N; Kalaydjieva L
Hum Mutat; 2003 Aug; 22(2):129-35. PubMed ID: 12872253
[TBL] [Abstract][Full Text] [Related]
35. Functional analysis of connexin-32 mutants associated with X-linked dominant Charcot-Marie-Tooth disease.
Wang HL; Chang WT; Yeh TH; Wu T; Chen MS; Wu CY
Neurobiol Dis; 2004 Mar; 15(2):361-70. PubMed ID: 15006706
[TBL] [Abstract][Full Text] [Related]
36. [X-Linked Charcot-Marie-Tooth disease with a new mutation (Thr191Ala) in the connexin32].
Kobari M; Irie J; Takizawa K; Yoshihara T; Sobue G
Rinsho Shinkeigaku; 2000 Sep; 40(9):896-9. PubMed ID: 11257785
[TBL] [Abstract][Full Text] [Related]
37. 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]
38. [A new mutation in the connexin 32 gene of a Chinese family with Charcot-Marie-Tooth disease associated with central conduction slowing].
Luo W; Tang B; Zhao G; Xia K; Yang Y; Xiao J; Yan X; Xia J
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2002 Oct; 19(5):367-9. PubMed ID: 12362307
[TBL] [Abstract][Full Text] [Related]
39. Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B; Huehne K
Hum Genet; 2007 Dec; 122(5):557. PubMed ID: 18386325
[No Abstract] [Full Text] [Related]
40. Novel human pathological mutations. Gene symbol: GJB1. Disease: Charcot-Marie-Tooth disease 1.
Rautenstrauss B; Huehne K
Hum Genet; 2007 Dec; 122(5):557. PubMed ID: 18386324
[No Abstract] [Full Text] [Related]
[Previous] [Next] [New Search]
