172 related articles for article (PubMed ID: 23912496)
1. 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]
2. 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]
3. 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]
4. Charcot-Marie-Tooth Disease with a Novel Variant in Gap Junction Protein Beta 1 Presenting with Visual Field Defects.
Nozaki I; Hashiguchi A; Takashima H; Yamashita Y; Higashide T; Iwasa K; Ono K
Intern Med; 2023 Oct; 62(20):3033-3036. PubMed ID: 36792185
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
7. 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]
8. 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]
9. [Transient, recurrent, white matter lesions in X-linked Charcot-Marie-Tooth disease with heterozygote mutation of GJB1 gene: case report of a female patient].
Takemaru M; Shimoe Y; Sato K; Hashiguchi A; Takashima H; Kuriyama M
Rinsho Shinkeigaku; 2018 May; 58(5):302-307. PubMed ID: 29710024
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. 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]
13. Three novel mutations in a group of Chinese patients with X-linked Charcot-Marie-Tooth disease.
Chen B; Niu S; Wang X; Yu X; Tang H; Pan H; Zhang Z
Clin Neurol Neurosurg; 2019 Sep; 184():105430. PubMed ID: 31323543
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. 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]
16. 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]
17. Novel 95G>A (R32K) somatic mosaic connexin 32 mutation.
Baker SK; Reith CC; Ainsworth PJ
Muscle Nerve; 2008 Nov; 38(5):1510-1514. PubMed ID: 18949782
[TBL] [Abstract][Full Text] [Related]
18. Hereditary motor and sensory neuropathy (HMSN) type X1 in an Argentinean family reveals independent GJB1/Cx32 mutations at the identical nucleotide position.
Gerding WM; Koetting J; Rey LP; Bibas Bonet H; Abdala ME; Mazzeo A; Mostacciuolo ML; Arning L; Carrero-Valenzuela R
Mol Cell Probes; 2013; 27(3-4):118-21. PubMed ID: 23384994
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. Clinical and electrophysiological features in Charcot-Marie-Tooth disease with mutations in the NEFL gene.
Miltenberger-Miltenyi G; Janecke AR; Wanschitz JV; Timmerman V; Windpassinger C; Auer-Grumbach M; Löscher WN
Arch Neurol; 2007 Jul; 64(7):966-70. PubMed ID: 17620486
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
