130 related articles for article (PubMed ID: 34326750)
1.
Kovale S; Terauda R; Millere E; Taurina G; Murmane D; Isakova J; Kenina V; Gailite L
Case Rep Neurol; 2021; 13(2):422-428. PubMed ID: 34326750
[TBL] [Abstract][Full Text] [Related]
2. 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]
3. 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]
4. Genetic analysis and natural history of Charcot-Marie-Tooth disease CMTX1 due to GJB1 variants.
Record CJ; Skorupinska M; Laura M; Rossor AM; Pareyson D; Pisciotta C; Feely SME; Lloyd TE; Horvath R; Sadjadi R; Herrmann DN; Li J; Walk D; Yum SW; Lewis RA; Day J; Burns J; Finkel RS; Saporta MA; Ramchandren S; Weiss MD; Acsadi G; Fridman V; Muntoni F; Poh R; Polke JM; Zuchner S; Shy ME; Scherer SS; Reilly MM;
Brain; 2023 Oct; 146(10):4336-4349. PubMed ID: 37284795
[TBL] [Abstract][Full Text] [Related]
5. 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]
6. 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]
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. 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]
9. 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]
10. Aberrant Splicing in
Boso F; Taioli F; Cabrini I; Cavallaro T; Fabrizi GM
Brain Sci; 2020 Dec; 11(1):. PubMed ID: 33375465
[TBL] [Abstract][Full Text] [Related]
11. GJB1 variants in Charcot-Marie-Tooth disease X-linked type 1 in Mali.
Yalcouyé A; Diallo SH; Cissé L; Karembé M; Diallo S; Coulibaly T; Diarra S; Coulibaly D; Keita M; Guinto CO; Fischbeck KH; Wonkam A; Landouré G;
J Peripher Nerv Syst; 2022 Jun; 27(2):113-119. PubMed ID: 35383424
[TBL] [Abstract][Full Text] [Related]
12. 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]
13. 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]
14. 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]
15. 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]
16. 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]
17. 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]
18. Episodic Neurological Dysfunction in X-Linked Charcot-Marie-Tooth Disease: Expansion of the Phenotypic and Genetic Spectrum.
Zhan F; Tian W; Cao Y; Wu J; Ni R; Liu T; Yuan Y; Luan X; Cao L
J Clin Neurol; 2024 Jan; 20(1):59-66. PubMed ID: 38179633
[TBL] [Abstract][Full Text] [Related]
19. 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]
20. 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]
[Next] [New Search]