184 related articles for article (PubMed ID: 11257785)
1. [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]
2. 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]
3. 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]
4. 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]
5. [A family of X-linked motor and sensory neuropathy with a new type of connexin32 mutation].
Ohnishi A; Yoshimura T; Takazawa A; Hashimoto T; Yamamoto T; Fukushima Y
Rinsho Shinkeigaku; 1995 Aug; 35(8):843-9. PubMed ID: 8665724
[TBL] [Abstract][Full Text] [Related]
6. X-linked Charcot-Marie-Tooth disease and connexin32.
Ionasescu VV
Cell Biol Int; 1998 Nov; 22(11-12):807-13. PubMed ID: 10873293
[TBL] [Abstract][Full Text] [Related]
7. [A pedigree of Charcot-Marie-Tooth disease type 4F (Periaxin mutation)].
Shimohata M; Hirahara K; Igarashi S; Hara K; Kijima K; Onodera O; Tanaka K; Nishizawa M; Tsuji S; Hayasaka K
Rinsho Shinkeigaku; 2005 Mar; 45(3):221-5. PubMed ID: 15835292
[TBL] [Abstract][Full Text] [Related]
8. 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]
9. 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]
10. [Two novel mutations of GJB1 gene associated with typical X-linked Charcot-Marie-Tooth disease].
Qiao XH; Li YX; Chang XZ; Luan XH; Chen B; Bu DF; Yuan Y
Zhonghua Yi Xue Za Zhi; 2009 Dec; 89(47):3328-31. PubMed ID: 20193560
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. 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]
13. 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]
14. Phenotypic and cellular expression of two novel connexin32 mutations causing CMT1X.
Kleopa KA; Zamba-Papanicolaou E; Alevra X; Nicolaou P; Georgiou DM; Hadjisavvas A; Kyriakides T; Christodoulou K
Neurology; 2006 Feb; 66(3):396-402. PubMed ID: 16476939
[TBL] [Abstract][Full Text] [Related]
15. 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]
16. X-linked Charcot-Marie-Tooth disease and connexin32.
Fischbeck KH; Abel A; Lin GS; Scherer SS
Ann N Y Acad Sci; 1999 Sep; 883():36-41. PubMed ID: 10586227
[TBL] [Abstract][Full Text] [Related]
17. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
18. Three novel mutations in the gap junction beta 1 (GJB1) gene coding region identified in Charcot-Marie-Tooth patients of Greek origin: T55I, R164Q, V120E. Mutation in brief no 236. Online.
Karadimas C; Panas M; Chronopoulou P; Avramopoulos D; Vassilopoulos D
Hum Mutat; 1999; 13(4):339. PubMed ID: 10220155
[TBL] [Abstract][Full Text] [Related]
19. Mutation analysis of the small heat shock protein 27 gene in chinese patients with Charcot-Marie-Tooth disease.
Tang B; Liu X; Zhao G; Luo W; Xia K; Pan Q; Cai F; Hu Z; Zhang C; Chen B; Zhang F; Shen L; Zhang R; Jiang H
Arch Neurol; 2005 Aug; 62(8):1201-7. PubMed ID: 16087758
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]