160 related articles for article (PubMed ID: 36394156)
1. A novel splicing mutation in 5'UTR of GJB1 causes X-linked Charcot-Marie-tooth disease.
Li M; Yin M; Yang L; Chen Z; Du P; Sun L; Chen J
Mol Genet Genomic Med; 2023 Mar; 11(3):e2108. PubMed ID: 36394156
[TBL] [Abstract][Full Text] [Related]
2. A novel deletion mutation in GJB1 causes X-linked Charcot-Marie-Tooth disease in a Han Chinese family.
Lin P; Mao F; Liu Q; Yang W; Shao C; Yan C; Gong Y
Muscle Nerve; 2010 Dec; 42(6):922-6. PubMed ID: 21104867
[TBL] [Abstract][Full Text] [Related]
3. 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]
4. 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]
5. A novel GJB1 mutation associated with X-linked Charcot-Marie-Tooth disease in a large Chinese family pedigree.
Liu Y; Xue J; Li Z; Linpeng S; Tan H; Teng Y; Liang D; Wu L
Mol Genet Genomic Med; 2020 Mar; 8(3):e1127. PubMed ID: 31943912
[TBL] [Abstract][Full Text] [Related]
6. -459C>T point mutation in 5' non-coding region of human GJB1 gene is linked to X-linked Charcot-Marie-Tooth neuropathy.
Li M; Cheng TS; Ho PW; Chan KH; Mak W; Cheung RT; Ramsden DB; Sham PC; Song Y; Ho SL
J Peripher Nerv Syst; 2009 Mar; 14(1):14-21. PubMed ID: 19335535
[TBL] [Abstract][Full Text] [Related]
7. Novel Variants in
Zaman Q; Khan MA; Sahar K; Rehman G; Khan H; Rehman M; Najumuddin ; Ahmad I; Tariq M; Muthaffar OY; Abdulkareem AA; Bibi F; Naseer MI; Faisal MS; Wasif N; Jelani M
Genes (Basel); 2023 Jan; 14(2):. PubMed ID: 36833258
[TBL] [Abstract][Full Text] [Related]
8. A novel mutation in GJB1 (c.212T>G) in a Chinese family with X-linked Charcot-Marie-Tooth disease.
Xiao F; Tan JZ; Zhang X; Wang XF
J Clin Neurosci; 2015 Mar; 22(3):513-8. PubMed ID: 25595958
[TBL] [Abstract][Full Text] [Related]
9. 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]
10. [A new mutation in the GJB1 gene of a Chinese family with Charcot-Marie-Tooth disease associated with vocal cord paresis].
Li QH; Liu KX; Feng JL; Zeng AY; Li H; Wu L; Tang YG; Chen ML; Lin XH; Jiang JZ
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2010 Oct; 27(5):497-500. PubMed ID: 20931524
[TBL] [Abstract][Full Text] [Related]
11. 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]
12. Expansion of the phenotypic spectrum of X-linked Charcot-Marie-Tooth (CMT) disease.
Yang Q; Xiao X; Yuan Z; Jiao B; Liao X; Du J
J Clin Neurosci; 2020 Mar; 73():311-313. PubMed ID: 31987637
[TBL] [Abstract][Full Text] [Related]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. 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]
19. Whole exome sequencing establishes diagnosis of Charcot-Marie-Tooth 4J, 1C, and X1 subtypes.
Michaelidou K; Tsiverdis I; Erimaki S; Papadimitriou D; Amoiridis G; Papadimitriou A; Mitsias P; Zaganas I
Mol Genet Genomic Med; 2020 Apr; 8(4):e1141. PubMed ID: 32022442
[TBL] [Abstract][Full Text] [Related]
20. 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]
[Next] [New Search]