295 related articles for article (PubMed ID: 24768312)
1. Four novel connexin 32 mutations in X-linked Charcot-Marie-Tooth disease. Phenotypic variability and central nervous system involvement.
Karadima G; Koutsis G; Raftopoulou M; Floroskufi P; Karletidi KM; Panas M
J Neurol Sci; 2014 Jun; 341(1-2):158-61. PubMed ID: 24768312
[TBL] [Abstract][Full Text] [Related]
2. Unusual features of central nervous system involvement in CMTX associated with a novel mutation of GJB1 gene.
Stancanelli C; Taioli F; Testi S; Fabrizi GM; Arena MG; Granata F; Russo M; Gentile L; Vita G; Mazzeo A
J Peripher Nerv Syst; 2012 Dec; 17(4):407-11. PubMed ID: 23279342
[TBL] [Abstract][Full Text] [Related]
3. X-linked Charcot-Marie-Tooth type 1: stroke-like presentation of a novel GJB1 mutation.
Sagnelli A; Piscosquito G; Chiapparini L; Ciano C; Salsano E; Saveri P; Milani M; Taroni F; Pareyson D
J Peripher Nerv Syst; 2014 Jun; 19(2):183-6. PubMed ID: 24863494
[TBL] [Abstract][Full Text] [Related]
4. Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with novel connexin 32 mutation.
Hanemann CO; Bergmann C; Senderek J; Zerres K; Sperfeld AD
Arch Neurol; 2003 Apr; 60(4):605-9. PubMed ID: 12707076
[TBL] [Abstract][Full Text] [Related]
5. Novel mutations in the Charcot-Marie-Tooth disease genes PMP22, MPZ, and GJB1.
Huehne K; Benes V; Thiel C; Kraus C; Kress W; Hoeltzenbein M; Ploner CJ; Kotzian J; Reis A; Rott HD; Rautenstrauss BW
Hum Mutat; 2003 Jan; 21(1):100. PubMed ID: 12497641
[TBL] [Abstract][Full Text] [Related]
6. GJB1-associated X-linked Charcot-Marie-Tooth disease, a disorder affecting the central and peripheral nervous systems.
Abrams CK; Freidin M
Cell Tissue Res; 2015 Jun; 360(3):659-73. PubMed ID: 25370202
[TBL] [Abstract][Full Text] [Related]
7. Mutation Analysis of Gap Junction Protein Beta 1 and Genotype-Phenotype Correlation in X-linked Charcot-Marie-Tooth Disease in Chinese Patients.
Sun B; Chen ZH; Ling L; Li YF; Liu LZ; Yang F; Huang XS
Chin Med J (Engl); 2016 May; 129(9):1011-6. PubMed ID: 27098783
[TBL] [Abstract][Full Text] [Related]
8. [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]
9. Recurrent central nervous system white matter changes in charcot-Marie-tooth type X disease.
McKinney JL; De Los Reyes EC; Lo WD; Flanigan KM
Muscle Nerve; 2014 Mar; 49(3):451-4. PubMed ID: 24170412
[TBL] [Abstract][Full Text] [Related]
10. Novel GJB1 mutation causing adult-onset Charcot-Marie-Tooth disease in a female patient.
Martikainen MH; Majamaa K
Neuromuscul Disord; 2013 Nov; 23(11):899-901. PubMed ID: 23838279
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Mutational analysis of the 5' non-coding region of GJB1 in a Taiwanese cohort with Charcot-Marie-Tooth neuropathy.
Tsai PC; Chen CH; Liu AB; Chen YC; Soong BW; Lin KP; Yet SF; Lee YC
J Neurol Sci; 2013 Sep; 332(1-2):51-5. PubMed ID: 23827825
[TBL] [Abstract][Full Text] [Related]
13. Clinical, electrophysiological and molecular genetic studies in a family with X-linked dominant Charcot-Marie-Tooth neuropathy presenting a novel mutation in GJB1 Promoter and a rare polymorphism in LITAF/SIMPLE.
Beauvais K; Furby A; Latour P
Neuromuscul Disord; 2006 Jan; 16(1):14-8. PubMed ID: 16373087
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. A Review of X-linked Charcot-Marie-Tooth Disease.
Wang Y; Yin F
J Child Neurol; 2016 May; 31(6):761-72. PubMed ID: 26385972
[TBL] [Abstract][Full Text] [Related]
18. X linked Charcot-Marie-Tooth disease and multiple sclerosis: emerging evidence for an association.
Koutsis G; Breza M; Velonakis G; Tzartos J; Kasselimis D; Kartanou C; Karavasilis E; Tzanetakos D; Anagnostouli M; Andreadou E; Evangelopoulos ME; Kilidireas C; Potagas C; Panas M; Karadima G
J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):187-194. PubMed ID: 30196252
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical and Genetic Features of Chinese X-linked Charcot-Marie-Tooth Type 1 Disease.
Lu YY; Lyu H; Jin SQ; Zuo YH; Liu J; Wang ZX; Zhang W; Yuan Y
Chin Med J (Engl); 2017 May; 130(9):1049-1054. PubMed ID: 28469099
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]