168 related articles for article (PubMed ID: 31119804)
21. Genetic and phenotypic profile of 112 patients with X-linked Charcot-Marie-Tooth disease type 1.
Yuan JH; Sakiyama Y; Hashiguchi A; Ando M; Okamoto Y; Yoshimura A; Higuchi Y; Takashima H
Eur J Neurol; 2018 Dec; 25(12):1454-1461. PubMed ID: 29998508
[TBL] [Abstract][Full Text] [Related]
22. Clinical characterization and genetic analysis of Korean patients with X-linked Charcot-Marie-Tooth disease type 1.
Hong YB; Park JM; Yu JS; Yoo DH; Nam DE; Park HJ; Lee JS; Hwang SH; Chung KW; Choi BO
J Peripher Nerv Syst; 2017 Sep; 22(3):172-181. PubMed ID: 28448691
[TBL] [Abstract][Full Text] [Related]
23. Charcot-Marie-Tooth neuropathy: clinical phenotypes of four novel mutations in the MPZ and Cx 32 genes.
Street VA; Meekins G; Lipe HP; Seltzer WK; Carter GT; Kraft GH; Bird TD
Neuromuscul Disord; 2002 Oct; 12(7-8):643-50. PubMed ID: 12207932
[TBL] [Abstract][Full Text] [Related]
24. 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]
25. 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]
26. Six new gap junction beta 1 gene mutations and their phenotypic expression in Czech patients with Charcot-Marie-Tooth disease.
Brozková D; Mazanec R; Haberlová J; Sakmaryová I; Subrt I; Seeman P
Genet Test Mol Biomarkers; 2010 Feb; 14(1):3-7. PubMed ID: 20039784
[TBL] [Abstract][Full Text] [Related]
27. Mutation analysis in Chariot-Marie Tooth disease type 1: point mutations in the MPZ gene and the GJB1 gene cause comparable phenotypic heterogeneity.
Young P; Grote K; Kuhlenbäumer G; Debus O; Kurlemann H; Halfter H; Funke H; Ringelstein EB; Stögbauer F
J Neurol; 2001 May; 248(5):410-5. PubMed ID: 11437164
[TBL] [Abstract][Full Text] [Related]
28. GJB1/Connexin 32 whole gene deletions in patients with X-linked Charcot-Marie-Tooth disease.
Gonzaga-Jauregui C; Zhang F; Towne CF; Batish SD; Lupski JR
Neurogenetics; 2010 Oct; 11(4):465-70. PubMed ID: 20532933
[TBL] [Abstract][Full Text] [Related]
29. 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]
30. Phenotypes and cellular effects of GJB1 mutations causing CMT1X in a cohort of 226 Chinese CMT families.
Liu L; Li XB; Hu ZHM; Zi XH; Zhao X; Xie YZ; Huang SHX; Xia K; Tang BS; Zhang RX
Clin Genet; 2017 Jun; 91(6):881-891. PubMed ID: 27804109
[TBL] [Abstract][Full Text] [Related]
31. 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]
32. Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1).
Panosyan FB; Laura M; Rossor AM; Pisciotta C; Piscosquito G; Burns J; Li J; Yum SW; Lewis RA; Day J; Horvath R; Herrmann DN; Shy ME; Pareyson D; Reilly MM; Scherer SS;
Neurology; 2017 Aug; 89(9):927-935. PubMed ID: 28768847
[TBL] [Abstract][Full Text] [Related]
33. 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]
34. A novel mutation in the nerve-specific 5'UTR of the GJB1 gene causes X-linked Charcot-Marie-Tooth disease.
Murphy SM; Polke J; Manji H; Blake J; Reiniger L; Sweeney M; Houlden H; Brandner S; Reilly MM
J Peripher Nerv Syst; 2011 Mar; 16(1):65-70. PubMed ID: 21504505
[TBL] [Abstract][Full Text] [Related]
35. Deletion of P2 promoter of GJB1 gene a cause of Charcot-Marie-Tooth disease.
Kulshrestha R; Burton-Jones S; Antoniadi T; Rogers M; Jaunmuktane Z; Brandner S; Kiely N; Manuel R; Willis T
Neuromuscul Disord; 2017 Aug; 27(8):766-770. PubMed ID: 28601552
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Intermediate nerve conduction velocities define X-linked Charcot-Marie-Tooth neuropathy families.
Nicholson G; Nash J
Neurology; 1993 Dec; 43(12):2558-64. PubMed ID: 8255457
[TBL] [Abstract][Full Text] [Related]
38. 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]
39. Clinical and genetic spectra of Charcot-Marie-Tooth disease in Chinese Han patients.
Sun B; Chen Z; Ling L; Yang F; Huang X
J Peripher Nerv Syst; 2017 Mar; 22(1):13-18. PubMed ID: 27862672
[TBL] [Abstract][Full Text] [Related]
40. Three novel mutations and genetic epidemiology analysis of the Gap Junction Beta 1 (GJB1) gene among Hungarian Charcot-Marie-Tooth disease patients.
Milley GM; Varga ET; Grosz Z; Bereznai B; Aranyi Z; Boczan J; Dioszeghy P; Kálmán B; Gal A; Molnar MJ
Neuromuscul Disord; 2016 Oct; 26(10):706-711. PubMed ID: 27544631
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]