138 related articles for article (PubMed ID: 11294924)
1. A new mutation in a family with cold-aggravated myotonia disrupts Na(+) channel inactivation.
Wu FF; Takahashi MP; Pegoraro E; Angelini C; Colleselli P; Cannon SC; Hoffman EP
Neurology; 2001 Apr; 56(7):878-84. PubMed ID: 11294924
[TBL] [Abstract][Full Text] [Related]
2. A C-terminal skeletal muscle sodium channel mutation associated with myotonia disrupts fast inactivation.
Wu FF; Gordon E; Hoffman EP; Cannon SC
J Physiol; 2005 Jun; 565(Pt 2):371-80. PubMed ID: 15774523
[TBL] [Abstract][Full Text] [Related]
3. A novel SCN4A mutation causing myotonia aggravated by cold and potassium.
Heine R; Pika U; Lehmann-Horn F
Hum Mol Genet; 1993 Sep; 2(9):1349-53. PubMed ID: 8242056
[TBL] [Abstract][Full Text] [Related]
4. A novel founder SCN4A mutation causes painful cold-induced myotonia in French-Canadians.
Rossignol E; Mathieu J; Thiffault I; Tétreault M; Dicaire MJ; Chrestian N; Dupré N; Puymirat J; Brais B
Neurology; 2007 Nov; 69(20):1937-41. PubMed ID: 17998485
[TBL] [Abstract][Full Text] [Related]
5. Enhanced slow inactivation by V445M: a sodium channel mutation associated with myotonia.
Takahashi MP; Cannon SC
Biophys J; 1999 Feb; 76(2):861-8. PubMed ID: 9929487
[TBL] [Abstract][Full Text] [Related]
6. Slow inactivation differs among mutant Na channels associated with myotonia and periodic paralysis.
Hayward LJ; Brown RH; Cannon SC
Biophys J; 1997 Mar; 72(3):1204-19. PubMed ID: 9138567
[TBL] [Abstract][Full Text] [Related]
7. Temperature-sensitive sodium channelopathy with heat-induced myotonia and cold-induced paralysis.
Sugiura Y; Aoki T; Sugiyama Y; Hida C; Ogata M; Yamamoto T
Neurology; 2000 Jun; 54(11):2179-81. PubMed ID: 10851391
[TBL] [Abstract][Full Text] [Related]
8. A novel dominant mutation of the Nav1.4 alpha-subunit domain I leading to sodium channel myotonia.
Petitprez S; Tiab L; Chen L; Kappeler L; Rösler KM; Schorderet D; Abriel H; Burgunder JM
Neurology; 2008 Nov; 71(21):1669-75. PubMed ID: 19015483
[TBL] [Abstract][Full Text] [Related]
9. A novel mutation in the gene for the adult skeletal muscle sodium channel alpha-subunit (SCN4A) that causes paramyotonia congenita of von Eulenburg.
Sasaki R; Takano H; Kamakura K; Kaida K; Hirata A; Saito M; Tanaka H; Kuzuhara S; Tsuji S
Arch Neurol; 1999 Jun; 56(6):692-6. PubMed ID: 10369308
[TBL] [Abstract][Full Text] [Related]
10. 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]
11. 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]
12. Clinical, electrophysiologic, and genetic study of non-dystrophic myotonia in French-Canadians.
Dupré N; Chrestian N; Bouchard JP; Rossignol E; Brunet D; Sternberg D; Brais B; Mathieu J; Puymirat J
Neuromuscul Disord; 2009 May; 19(5):330-4. PubMed ID: 18337100
[TBL] [Abstract][Full Text] [Related]
13. N1366S mutation of human skeletal muscle sodium channel causes paramyotonia congenita.
Ke Q; Ye J; Tang S; Wang J; Luo B; Ji F; Zhang X; Yu Y; Cheng X; Li Y
J Physiol; 2017 Nov; 595(22):6837-6850. PubMed ID: 28940424
[TBL] [Abstract][Full Text] [Related]
14. 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]
15. A large German kindred with cold-aggravated myotonia and a heterozygous A1481D mutation in the SCN4A gene.
Schoser BG; Schröder JM; Grimm T; Sternberg D; Kress W
Muscle Nerve; 2007 May; 35(5):599-606. PubMed ID: 17212350
[TBL] [Abstract][Full Text] [Related]
16. A novel mutation in the SCN4A responsible for cold-induced myotonia with normal electromyography findings on room temperature.
Bissay V; Keymolen K; Lissens W; Schmedding E; De Keyser J
J Neurol Sci; 2011 Sep; 308(1-2):162-4. PubMed ID: 21752396
[TBL] [Abstract][Full Text] [Related]
17. Changes of Resurgent Na
Huang CW; Lai HJ; Lin PC; Lee MJ
Int J Mol Sci; 2020 Apr; 21(7):. PubMed ID: 32276507
[TBL] [Abstract][Full Text] [Related]
18. Human sodium channel myotonia: slowed channel inactivation due to substitutions for a glycine within the III-IV linker.
Lerche H; Heine R; Pika U; George AL; Mitrovic N; Browatzki M; Weiss T; Rivet-Bastide M; Franke C; Lomonaco M
J Physiol; 1993 Oct; 470():13-22. PubMed ID: 8308722
[TBL] [Abstract][Full Text] [Related]
19. Cold induces shifts of voltage dependence in mutant SCN4A, causing hypokalemic periodic paralysis.
Sugiura Y; Makita N; Li L; Noble PJ; Kimura J; Kumagai Y; Soeda T; Yamamoto T
Neurology; 2003 Oct; 61(7):914-8. PubMed ID: 14557559
[TBL] [Abstract][Full Text] [Related]
20. Mutations in the muscle sodium channel gene (SCN4A) in 13 French families with hyperkalemic periodic paralysis and paramyotonia congenita: phenotype to genotype correlations and demonstration of the predominance of two mutations.
Plassart E; Reboul J; Rime CS; Recan D; Millasseau P; Eymard B; Pelletier J; Thomas C; Chapon F; Desnuelle C
Eur J Hum Genet; 1994; 2(2):110-24. PubMed ID: 8044656
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]
