121 related articles for article (PubMed ID: 38877370)
1. Clinical and molecular characterization of myotonia congenita using whole-exome sequencing in Egyptian patients.
Elaraby NM; Ahmed HA; Dawoud H; Ashaat NA; Azmy A; Galal ER; Elhusseny Y; Awady HE; Metwally AM; Ashaat EA
Mol Biol Rep; 2024 Jun; 51(1):766. PubMed ID: 38877370
[TBL] [Abstract][Full Text] [Related]
2. Myotonia congenita and periodic hypokalemia paralysis in a consanguineous marriage pedigree: Coexistence of a novel CLCN1 mutation and an SCN4A mutation.
Zhao C; Tang D; Huang H; Tang H; Yang Y; Yang M; Luo Y; Tao H; Tang J; Zhou X; Shi X
PLoS One; 2020; 15(5):e0233017. PubMed ID: 32407401
[TBL] [Abstract][Full Text] [Related]
3. Identification of two novel compound heterozygous
Wei Z; Huaxing M; Xiaomei W; Juan W; Xueli C; Jing Z; Junhong G
Neurol Res; 2019 Dec; 41(12):1069-1074. PubMed ID: 31566103
[No Abstract] [Full Text] [Related]
4. Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
Li Y; Li M; Wang Z; Yang F; Wang H; Bai X; Sun B; Chen S; Huang X
Channels (Austin); 2022 Dec; 16(1):35-46. PubMed ID: 35170402
[TBL] [Abstract][Full Text] [Related]
5. Myotonia congenita: mutation spectrum of
Milla CP; De Castro CP; Gómez-González C; Martínez-Montero P; Pascual Pascual SI; Molano Mateos J
J Genet; 2019 Sep; 98():. PubMed ID: 31544778
[TBL] [Abstract][Full Text] [Related]
6. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
Lakraj AA; Miller G; Vortmeyer AO; Khokhar B; Nowak RJ; DiCapua DB
Yale J Biol Med; 2013 Mar; 86(1):101-6. PubMed ID: 23483815
[TBL] [Abstract][Full Text] [Related]
7. Identification of novel mutations of the CLCN1 gene for myotonia congenital in China.
Meng YX; Zhao Z; Shen HR; Bing Q; Hu J
Neurol Res; 2016 Jan; 38(1):40-4. PubMed ID: 27118449
[TBL] [Abstract][Full Text] [Related]
8. Functional and Structural Characterization of ClC-1 and Na
Brenes O; Barbieri R; Vásquez M; Vindas-Smith R; Roig J; Romero A; Valle GD; Bermúdez-Guzmán L; Bertelli S; Pusch M; Morales F
Cells; 2021 Feb; 10(2):. PubMed ID: 33670307
[TBL] [Abstract][Full Text] [Related]
9. Clinical and genetic characteristics of myotonia congenita in Chinese population.
He Y; Qiu Y; Xiong Y; Shen Y; Jiang K; Yi H; Huang P; Zhu Y; Zhu M; Zhou M; Hong D; Tan D
Channels (Austin); 2024 Dec; 18(1):2349823. PubMed ID: 38720415
[TBL] [Abstract][Full Text] [Related]
10. Genetic spectrum and founder effect of non-dystrophic myotonia: a Japanese case series study.
Yuan JH; Higuchi Y; Hashiguchi A; Ando M; Yoshimura A; Nakamura T; Sakiyama Y; Takashima H
J Neurol; 2022 Dec; 269(12):6406-6415. PubMed ID: 35907044
[TBL] [Abstract][Full Text] [Related]
11. [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
Nakamura Y; Sato H; Kakiuchi K; Miyano Y; Hosokawa T; Arawaka S
Rinsho Shinkeigaku; 2024 May; 64(5):344-348. PubMed ID: 38644209
[TBL] [Abstract][Full Text] [Related]
12. Myotonia congenita with strabismus in a large family with a mutation in the SCN4A gene.
Du H; Grob SR; Zhao L; Lee J; El-Sahn M; Hughes G; Luo J; Schaf K; Duan Y; Quach J; Wei X; Shaw P; Granet D; Zhang K
Eye (Lond); 2012 Aug; 26(8):1039-43. PubMed ID: 22653516
[TBL] [Abstract][Full Text] [Related]
13. Heterozygous CLCN1 mutations can modulate phenotype in sodium channel myotonia.
Furby A; Vicart S; Camdessanché JP; Fournier E; Chabrier S; Lagrue E; Paricio C; Blondy P; Touraine R; Sternberg D; Fontaine B
Neuromuscul Disord; 2014 Nov; 24(11):953-9. PubMed ID: 25088311
[TBL] [Abstract][Full Text] [Related]
14. CLCN1 mutations in Czech patients with myotonia congenita, in silico analysis of novel and known mutations in the human dimeric skeletal muscle chloride channel.
Skálová D; Zídková J; Voháňka S; Mazanec R; Mušová Z; Vondráček P; Mrázová L; Kraus J; Réblová K; Fajkusová L
PLoS One; 2013; 8(12):e82549. PubMed ID: 24349310
[TBL] [Abstract][Full Text] [Related]
15. A case of non-dystrophic myotonia with concomitant mutations in the SCN4A and CLCN1 genes.
Kato H; Kokunai Y; Dalle C; Kubota T; Madokoro Y; Yuasa H; Uchida Y; Ikeda T; Mochizuki H; Nicole S; Fontaine B; Takahashi MP; Mitake S
J Neurol Sci; 2016 Oct; 369():254-258. PubMed ID: 27653901
[TBL] [Abstract][Full Text] [Related]
16. Non-dystrophic myotonias: clinical and mutation spectrum of 70 German patients.
Vereb N; Montagnese F; Gläser D; Schoser B
J Neurol; 2021 May; 268(5):1708-1720. PubMed ID: 33263785
[TBL] [Abstract][Full Text] [Related]
17. A c.1775C > T Point Mutation of Sodium Channel Alfa Subunit Gene (SCN4A) in a Three-Generation Sardinian Family with Sodium Channel Myotonia.
Campanale C; Laghetti P; Saltarella I; Altamura C; Canioni E; Iosa E; Maggi L; Brugnoni R; Tacconi P; Desaphy JF
J Neuromuscul Dis; 2024; 11(3):725-734. PubMed ID: 38427496
[TBL] [Abstract][Full Text] [Related]
18. Myotonia congenita: novel mutations in CLCN1 gene.
Liu XL; Huang XJ; Shen JY; Zhou HY; Luan XH; Wang T; Chen SD; Wang Y; Tang HD; Cao L
Channels (Austin); 2015; 9(5):292-8. PubMed ID: 26260254
[TBL] [Abstract][Full Text] [Related]
19. Novel chloride channel gene mutations in two unrelated Chinese families with myotonia congenita.
Gao F; Ma FC; Yuan ZF; Yang CW; Li HF; Xia ZZ; Shui QX; Jiang KW
Neurol India; 2010; 58(5):743-6. PubMed ID: 21045501
[TBL] [Abstract][Full Text] [Related]
20. [An unusual case of sodium channel myotonia with transient weakness upon initiating movements which is characteristic in Becker disease].
Yamamoto J; Hokkoku K; Hatanaka Y; Sakoda S; Yuan JH; Sonoo M
Rinsho Shinkeigaku; 2017 Jun; 57(6):287-292. PubMed ID: 28552867
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]