168 related articles for article (PubMed ID: 31220874)
21. Genetic epidemiology of Charcot-Marie-Tooth disease.
Braathen GJ
Acta Neurol Scand Suppl; 2012; (193):iv-22. PubMed ID: 23106488
[TBL] [Abstract][Full Text] [Related]
22. 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]
23. 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]
24. 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]
25. GJB1 mutations c.212T>G and c.311A>C induce apoptosis and inwardly rectifying potassium current changes in X-linked Charcot-Marie-Tooth type 1.
Guo H; Liu Y; Gu J; Luo J; Ma Y; Xiao F
Biochem Biophys Res Commun; 2021 Dec; 582():8-15. PubMed ID: 34678594
[TBL] [Abstract][Full Text] [Related]
26. 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]
27. [Charcot-Marie-Tooth disease showing transient central nervous system lesions after a large amount of alcohol intake: A case report].
Shimizu C; Kasahara H; Furuta N; Shibata M; Nagashima K; Hashiguchi A; Takashima H; Ikeda Y
Rinsho Shinkeigaku; 2018 Aug; 58(8):479-484. PubMed ID: 30068806
[TBL] [Abstract][Full Text] [Related]
28. 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]
29. Proof of genetic heterogeneity in X-linked Charcot-Marie-Tooth disease.
Huttner IG; Kennerson ML; Reddel SW; Radovanovic D; Nicholson GA
Neurology; 2006 Dec; 67(11):2016-21. PubMed ID: 17159110
[TBL] [Abstract][Full Text] [Related]
30. 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]
31. 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]
32. X-linked hereditary motor sensory neuropathy (type 1) presenting with a stroke-like episode.
Anand G; Maheshwari N; Roberts D; Padeniya A; Hamilton-Ayers M; van der Knaap M; Fratter C; Jayawant S
Dev Med Child Neurol; 2010 Jul; 52(7):677-9. PubMed ID: 20491857
[TBL] [Abstract][Full Text] [Related]
33. Substitution impact of highly conserved arginine residue at position 75 in GJB1 gene in association with X-linked Charcot-Marie-tooth disease: A computational study.
Agrahari AK; Kumar A; R S; Zayed H; C GPD
J Theor Biol; 2018 Jan; 437():305-317. PubMed ID: 29111421
[TBL] [Abstract][Full Text] [Related]
34. An 8-generation family with X-linked Charcot-Marie-Tooth: Confirmation Of the pathogenicity Of a 3' untranslated region mutation in GJB1 and its clinical features.
Chen DH; Ma M; Scavina M; Blue E; Wolff J; Karna P; Dorschner MO; Raskind WH; Bird TD
Muscle Nerve; 2018 May; 57(5):859-862. PubMed ID: 29236290
[TBL] [Abstract][Full Text] [Related]
35. Mosaicism for GJB1 mutation causes milder Charcot-Marie-Tooth X1 phenotype in a heterozygous man than in a manifesting heterozygous woman.
Borgulová I; Mazanec R; Sakmaryová I; Havlová M; Safka Brožková D; Seeman P
Neurogenetics; 2013 Nov; 14(3-4):189-95. PubMed ID: 23912496
[TBL] [Abstract][Full Text] [Related]
36. Transient, recurrent, white matter lesions in x-linked Charcot-Marie-tooth disease with novel mutation of gap junction protein beta 1 gene in China: a case report.
Zhao Y; Xie Y; Zhu X; Wang H; Li Y; Li J
BMC Neurol; 2014 Aug; 14():156. PubMed ID: 25086786
[TBL] [Abstract][Full Text] [Related]
37. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease.
Barbat du Closel L; Bonello-Palot N; Péréon Y; Echaniz-Laguna A; Camdessanche JP; Nadaj-Pakleza A; Chanson JB; Frachet S; Magy L; Cassereau J; Cintas P; Choumert A; Devic P; Leonard Louis S; Gravier Dumonceau R; Delmont E; Salort-Campana E; Bouhour F; Latour P; Stojkovic T; Attarian S
Eur J Neurol; 2023 Oct; 30(10):3265-3276. PubMed ID: 37335503
[TBL] [Abstract][Full Text] [Related]
38. Consortium fine localization of X-linked Charcot-Marie-Tooth disease (CMTX1): additional support that connexin32 is the defect in CMTX1.
Pericak-Vance MA; Barker DF; Bergoffen JA; Chance P; Cochrane S; Dahl N; Exler MC; Fain PR; Fairweather ND; Fischbeck K
Hum Hered; 1995; 45(3):121-8. PubMed ID: 7615296
[TBL] [Abstract][Full Text] [Related]
39. Intermediate Charcot-Marie-Tooth disease: an electrophysiological reappraisal and systematic review.
Berciano J; García A; Gallardo E; Peeters K; Pelayo-Negro AL; Álvarez-Paradelo S; Gazulla J; Martínez-Tames M; Infante J; Jordanova A
J Neurol; 2017 Aug; 264(8):1655-1677. PubMed ID: 28364294
[TBL] [Abstract][Full Text] [Related]
40. A novel mutation of gap junction protein β 1 gene in X-linked Charcot-Marie-Tooth disease.
Chen SD; Li ZX; Guan YT; Zhou XJ; Jiang JM; Hao Y
Muscle Nerve; 2011 Jun; 43(6):887-92. PubMed ID: 21607969
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
