215 related articles for article (PubMed ID: 31987637)
41. Diagnostic yield of targeted sequential and massive panel approaches for inherited neuropathies.
Padilha JPD; Brasil CS; Hoefel AML; Winckler PB; Donis KC; Brusius-Facchin AC; Saute JAM
Clin Genet; 2020 Aug; 98(2):185-190. PubMed ID: 32506583
[TBL] [Abstract][Full Text] [Related]
42. 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]
43. Intermediate Charcot-Marie-Tooth disease.
Liu L; Zhang R
Neurosci Bull; 2014 Dec; 30(6):999-1009. PubMed ID: 25326399
[TBL] [Abstract][Full Text] [Related]
44. Whole-exome sequencing reveals a novel missense mutation in the MARS gene related to a rare Charcot-Marie-Tooth neuropathy type 2U.
Sagi-Dain L; Shemer L; Zelnik N; Zoabi Y; Orit S; Adir V; Schif A; Peleg A
J Peripher Nerv Syst; 2018 Jun; 23(2):138-142. PubMed ID: 29582526
[TBL] [Abstract][Full Text] [Related]
45. 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]
46. New novel mutations in Brazilian families with X-linked Charcot-Marie-Tooth disease.
Gouvea SP; Tomaselli PJ; Barretto LS; Perina KCB; Nyshyama FS; Nicolau N; Lourenço CM; Marques W
J Peripher Nerv Syst; 2019 Jun; 24(2):207-212. PubMed ID: 31119804
[TBL] [Abstract][Full Text] [Related]
47. Revisiting the pathogenic mechanism of the GJB1 5' UTR c.-103C > T mutation causing CMTX1.
Grosz BR; Svaren J; Perez-Siles G; Nicholson GA; Kennerson ML
Neurogenetics; 2021 Jul; 22(3):149-160. PubMed ID: 34089394
[TBL] [Abstract][Full Text] [Related]
48. 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]
49. Novel gap junction protein beta-1 gene mutation associated with a stroke-like syndrome and central nervous system involvement in patients with X-linked Charcot-Marie-Tooth Type 1: A case report and literature review.
Hu G; Zhang L; Zhang M; Yang C; Nie X; Xiang F; Chen L; Dong Z; Yu S
Clin Neurol Neurosurg; 2019 May; 180():68-73. PubMed ID: 30952033
[TBL] [Abstract][Full Text] [Related]
50. X-linked Charcot-Marie-Tooth disease predominates in a cohort of multiethnic Malaysian patients.
Shahrizaila N; Samulong S; Tey S; Suan LC; Meng LK; Goh KJ; Ahmad-Annuar A
Muscle Nerve; 2014 Feb; 49(2):198-201. PubMed ID: 23649551
[TBL] [Abstract][Full Text] [Related]
51. Gap junction protein beta 1 (GJB1) mutations and central nervous system symptoms in X-linked Charcot-Marie-Tooth disease.
Takashima H; Nakagawa M; Umehara F; Hirata K; Suehara M; Mayumi H; Yoshishige K; Matsuyama W; Saito M; Jonosono M; Arimura K; Osame M
Acta Neurol Scand; 2003 Jan; 107(1):31-7. PubMed ID: 12542510
[TBL] [Abstract][Full Text] [Related]
52. 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]
53. A case with CMTX1 disease showing transient ischemic-attack-like episodes.
Aktan Z; Akcakaya NH; Tekturk P; Deniz E; Koyuncu B; Yapici Z
Neurol Neurochir Pol; 2018 Mar; 52(2):285-288. PubMed ID: 29153916
[TBL] [Abstract][Full Text] [Related]
54. [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]
55. Clinical and mutational spectrum of Japanese patients with Charcot-Marie-Tooth disease caused by GDAP1 variants.
Yoshimura A; Yuan JH; Hashiguchi A; Hiramatsu Y; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Matsumura K; Hamano T; Sawaura N; Shimatani Y; Kumada S; Okumura Y; Miyahara J; Yamaguchi Y; Kitamura S; Haginoya K; Mitsui J; Ishiura H; Tsuji S; Takashima H
Clin Genet; 2017 Sep; 92(3):274-280. PubMed ID: 28244113
[TBL] [Abstract][Full Text] [Related]
56. Genetic profile and onset features of 1005 patients with Charcot-Marie-Tooth disease in Japan.
Yoshimura A; Yuan JH; Hashiguchi A; Ando M; Higuchi Y; Nakamura T; Okamoto Y; Nakagawa M; Takashima H
J Neurol Neurosurg Psychiatry; 2019 Feb; 90(2):195-202. PubMed ID: 30257968
[TBL] [Abstract][Full Text] [Related]
57. Gap junction beta 1 (GJB1) gene mutations in Italian patients with X-linked Charcot-Marie-Tooth disease.
Mandich P; Grandis M; Geroldi A; Acquaviva M; Varese A; Gulli R; Ciotti P; Bellone E
J Hum Genet; 2008; 53(6):529-533. PubMed ID: 18379723
[TBL] [Abstract][Full Text] [Related]
58. Vocal cord paresis and probable X-linked Charcot-Marie-Tooth disease with novel GJB1 mutation.
Li Q; Chen M; Liu K; Lin X; Chui D
Int J Neurosci; 2010 Nov; 120(11):731-4. PubMed ID: 20942588
[TBL] [Abstract][Full Text] [Related]
59. X-linked Charcot-Marie-Tooth disease with GJB1 mutation presenting as acute disseminated encephalomyelitis-like illness: A case report.
Kim JK; Han SA; Kim SJ
Medicine (Baltimore); 2017 Dec; 96(49):e9176. PubMed ID: 29245364
[TBL] [Abstract][Full Text] [Related]
60. Preimplantation genetic diagnosis of X-linked Charcot-Marie-Tooth disease by indirect linkage analysis.
Borgulová I; Putzová M; Soldatova I; Stejskal D
Med Clin (Barc); 2018 Mar; 150(6):215-219. PubMed ID: 28797703
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
