BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

165 related articles for article (PubMed ID: 17998485)

  • 1. 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]  

  • 2. 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]  

  • 3. 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]  

  • 4. Late onset painful cold-aggravated myotonia: three families with SCN4A L1436P mutation.
    Bissay V; Keymolen K; Lissens W; Laureys G; Schmedding E; De Keyser J
    Neuromuscul Disord; 2011 Aug; 21(8):590-3. PubMed ID: 21664816
    [TBL] [Abstract][Full Text] [Related]  

  • 5. Coexistence of CLCN1 and SCN4A mutations in one family suffering from myotonia.
    Maggi L; Ravaglia S; Farinato A; Brugnoni R; Altamura C; Imbrici P; Camerino DC; Padovani A; Mantegazza R; Bernasconi P; Desaphy JF; Filosto M
    Neurogenetics; 2017 Dec; 18(4):219-225. PubMed ID: 28993909
    [TBL] [Abstract][Full Text] [Related]  

  • 6. 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]  

  • 7. 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]  

  • 8. 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]  

  • 9. 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]  

  • 10. Biophysical characterization of M1476I, a sodium channel founder mutation associated with cold-induced myotonia in French Canadians.
    Zhao J; Duprè N; Puymirat J; Chahine M
    J Physiol; 2012 Jun; 590(11):2629-44. PubMed ID: 22250216
    [TBL] [Abstract][Full Text] [Related]  

  • 11. 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]  

  • 12. 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]  

  • 13. 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]  

  • 14. 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]  

  • 15. Sequence CLCN1 and SCN4A in patients with Nondystrophic myotonias in Chinese populations: Genetic and pedigree analysis of 10 families and review of the literature.
    Yang X; Jia H; An R; Xi J; Xu Y
    Channels (Austin); 2017 Jan; 11(1):55-65. PubMed ID: 27415035
    [TBL] [Abstract][Full Text] [Related]  

  • 16. 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]  

  • 17. In tandem analysis of CLCN1 and SCN4A greatly enhances mutation detection in families with non-dystrophic myotonia.
    Trip J; Drost G; Verbove DJ; van der Kooi AJ; Kuks JB; Notermans NC; Verschuuren JJ; de Visser M; van Engelen BG; Faber CG; Ginjaar IB
    Eur J Hum Genet; 2008 Aug; 16(8):921-9. PubMed ID: 18337730
    [TBL] [Abstract][Full Text] [Related]  

  • 18. SCN4A variants and Brugada syndrome: phenotypic and genotypic overlap between cardiac and skeletal muscle sodium channelopathies.
    Bissay V; Van Malderen SC; Keymolen K; Lissens W; Peeters U; Daneels D; Jansen AC; Pappaert G; Brugada P; De Keyser J; Van Dooren S
    Eur J Hum Genet; 2016 Mar; 24(3):400-7. PubMed ID: 26036855
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Non-dystrophic myotonia: prospective study of objective and patient reported outcomes.
    Trivedi JR; Bundy B; Statland J; Salajegheh M; Rayan DR; Venance SL; Wang Y; Fialho D; Matthews E; Cleland J; Gorham N; Herbelin L; Cannon S; Amato A; Griggs RC; Hanna MG; Barohn RJ;
    Brain; 2013 Jul; 136(Pt 7):2189-200. PubMed ID: 23771340
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.