238 related articles for article (PubMed ID: 29111379)
21. Sequence CLCN1 and SCN4A genes in patients with nondystrophic myotonia in Chinese people.
Meng YX; Yu M; Liu C; Zhang H; Yang Y; Zhang J
Medicine (Baltimore); 2022 Jul; 101(29):e29591. PubMed ID: 35866763
[TBL] [Abstract][Full Text] [Related]
22. [Analysis of SCN4A gene variation in a Chinese pedigree affected with skeletal muscle sodium channelopathies].
Lu Y; Yang X; Wang X; Xue P; Zhang J; Li Y
Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2019 Aug; 36(8):809-812. PubMed ID: 31400134
[TBL] [Abstract][Full Text] [Related]
23. Paramyotonia congenita: from clinical diagnosis to in silico protein modeling analysis.
Nurputra DK; Nakagawa T; Takeshima Y; Harahap IS; Morikawa S; Sakaeda T; Lai PS; Matsuo M; Takaoka Y; Nishio H
Pediatr Int; 2012 Oct; 54(5):602-12. PubMed ID: 22507243
[TBL] [Abstract][Full Text] [Related]
24. Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S; Männikkö R; Joyce PI; McGoldrick P; Wettstein J; Lassi G; Raja Rayan DL; Blanco G; Quinn C; Liavas A; Lionikas A; Amior N; Dick J; Healy EG; Stewart M; Carter S; Hutchinson M; Bentley L; Fratta P; Cortese A; Cox R; Brown SD; Tucci V; Wackerhage H; Amato AA; Greensmith L; Koltzenburg M; Hanna MG; Acevedo-Arozena A
Brain; 2014 Dec; 137(Pt 12):3171-85. PubMed ID: 25348630
[TBL] [Abstract][Full Text] [Related]
25. Non-dystrophic myotonia Chilean cohort with predominance of the SCN4A Gly1306Glu variant.
Avila-Smirnow D; Vargas Leal CP; Beytía Reyes MLA; Cortés Zepeda R; Escobar RG; Kleinsteuber Saa K; Lagos Lucero M; Avaria Benapres MLA; Padilla Pérez O; Casar Leturia JC; Mellado Sagredo C; Sternberg D
Neuromuscul Disord; 2020 Jul; 30(7):554-561. PubMed ID: 32593548
[TBL] [Abstract][Full Text] [Related]
26. Paramyotonia congenita in a Slovak population: Genetic and pedigree analysis of 3 families.
Cibulcik F; Spalek P; Martinka I; Zidkova J; Grofik M; Sivak S; Kurca E
Biomed Pap Med Fac Univ Palacky Olomouc Czech Repub; 2019 Dec; 163(4):362-365. PubMed ID: 30647473
[TBL] [Abstract][Full Text] [Related]
27. Clinical, electrophysiological, and molecular genetic studies in a new family with paramyotonia congenita.
Davies NP; Eunson LH; Gregory RP; Mills KR; Morrison PJ; Hanna MG
J Neurol Neurosurg Psychiatry; 2000 Apr; 68(4):504-7. PubMed ID: 10727489
[TBL] [Abstract][Full Text] [Related]
28. Clinico-Genotypic Correlation: Recurrent Attacks of Paralysis and Skeletal Muscle SCN4A Mutation (p.Ile693Thr).
Nanda S; Tandon V; Menon R; Sundaram S; Nair M
J Clin Neuromuscul Dis; 2019 Sep; 21(1):42-46. PubMed ID: 31453854
[TBL] [Abstract][Full Text] [Related]
29. Clinical, electrophysiological and genetic features of a large Australian family with paramyotonia congenita.
Parasivam S; Krupa M; Slee M; Thyagarajan DE
Med J Aust; 2009 Mar; 190(6):334-6. PubMed ID: 19296818
[TBL] [Abstract][Full Text] [Related]
30. A Sodium Channel Myotonia Presenting with Intermittent Dysphagia as a Manifestation of a Rare SCN4A Variant.
Benhammou JN; Phan J; Lee H; Ghassemi K; Parsons W; Grody WW; Pisegna JR
J Mol Neurosci; 2017 Mar; 61(3):312-314. PubMed ID: 28012096
[TBL] [Abstract][Full Text] [Related]
31. Lack of sodium channel mutation in an Italian family with paramyotonia congenita.
Sampaolo S; Puca AA; Nigro V; Cappa V; Sannino V; Sanges G; Bonavita V; Di Iorio G
Neurology; 1999 Oct; 53(7):1549-55. PubMed ID: 10534266
[TBL] [Abstract][Full Text] [Related]
32. Functional characterization and cold sensitivity of T1313A, a new mutation of the skeletal muscle sodium channel causing paramyotonia congenita in humans.
Bouhours M; Sternberg D; Davoine CS; Ferrer X; Willer JC; Fontaine B; Tabti N
J Physiol; 2004 Feb; 554(Pt 3):635-47. PubMed ID: 14617673
[TBL] [Abstract][Full Text] [Related]
33. Pharmacogenetics of myotonic hNav1.4 sodium channel variants situated near the fast inactivation gate.
Farinato A; Altamura C; Imbrici P; Maggi L; Bernasconi P; Mantegazza R; Pasquali L; Siciliano G; Lo Monaco M; Vial C; Sternberg D; Carratù MR; Conte D; Desaphy JF
Pharmacol Res; 2019 Mar; 141():224-235. PubMed ID: 30611854
[TBL] [Abstract][Full Text] [Related]
34. Severe infantile hyperkalaemic periodic paralysis and paramyotonia congenita: broadening the clinical spectrum associated with the T704M mutation in SCN4A.
Brancati F; Valente EM; Davies NP; Sarkozy A; Sweeney MG; LoMonaco M; Pizzuti A; Hanna MG; Dallapiccola B
J Neurol Neurosurg Psychiatry; 2003 Sep; 74(9):1339-41. PubMed ID: 12933953
[TBL] [Abstract][Full Text] [Related]
35. A Novel De Novo Heterozygous SCN4a Mutation Causing Congenital Myopathy, Myotonia and Multiple Congenital Anomalies.
Waldrop M; Amornvit J; Pierson CR; Boue DR; Sahenk Z
J Neuromuscul Dis; 2019; 6(4):467-473. PubMed ID: 31609695
[TBL] [Abstract][Full Text] [Related]
36. 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]
37. Mutation spectrum and health status in skeletal muscle channelopathies in Japan.
Sasaki R; Nakaza M; Furuta M; Fujino H; Kubota T; Takahashi MP
Neuromuscul Disord; 2020 Jul; 30(7):546-553. PubMed ID: 32660787
[TBL] [Abstract][Full Text] [Related]
38. Loss-of-function mutations in SCN4A cause severe foetal hypokinesia or 'classical' congenital myopathy.
Zaharieva IT; Thor MG; Oates EC; van Karnebeek C; Hendson G; Blom E; Witting N; Rasmussen M; Gabbett MT; Ravenscroft G; Sframeli M; Suetterlin K; Sarkozy A; D'Argenzio L; Hartley L; Matthews E; Pitt M; Vissing J; Ballegaard M; Krarup C; Slørdahl A; Halvorsen H; Ye XC; Zhang LH; Løkken N; Werlauff U; Abdelsayed M; Davis MR; Feng L; Phadke R; Sewry CA; Morgan JE; Laing NG; Vallance H; Ruben P; Hanna MG; Lewis S; Kamsteeg EJ; Männikkö R; Muntoni F
Brain; 2016 Mar; 139(Pt 3):674-91. PubMed ID: 26700687
[TBL] [Abstract][Full Text] [Related]
39. A new case of autosomal dominant myotonia associated with the V1589M missense mutation in the muscle sodium channel gene and its phenotypic classification.
Ferriby D; Stojkovic T; Sternberg D; Hurtevent JF; Hurtevent JP; Vermersch P
Neuromuscul Disord; 2006 May; 16(5):321-4. PubMed ID: 16624558
[TBL] [Abstract][Full Text] [Related]
40. Muscle MRI reveals distinct abnormalities in genetically proven non-dystrophic myotonias.
Morrow JM; Matthews E; Raja Rayan DL; Fischmann A; Sinclair CD; Reilly MM; Thornton JS; Hanna MG; Yousry TA
Neuromuscul Disord; 2013 Aug; 23(8):637-46. PubMed ID: 23810313
[TBL] [Abstract][Full Text] [Related]
[Previous] [Next] [New Search]
