BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

127 related articles for article (PubMed ID: 29451154)

  • 21. 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]  

  • 22. Sodium Channelopathies of Skeletal Muscle.
    Cannon SC
    Handb Exp Pharmacol; 2018; 246():309-330. PubMed ID: 28939973
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Non-dystrophic myotonia: 2-year clinical and patient reported outcomes.
    Fullam TR; Chandrashekhar S; Farmakidis C; Jawdat O; Pasnoor M; Dimachkie MM; Statland JM;
    Muscle Nerve; 2022 Aug; 66(2):148-158. PubMed ID: 35644941
    [TBL] [Abstract][Full Text] [Related]  

  • 24. 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]  

  • 25. 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]  

  • 26. [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]  

  • 27. 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]  

  • 28. 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]  

  • 29. Dramatic improvement of myotonia permanens with flecainide: a two-case report of a possible bench-to-bedside pharmacogenetics strategy.
    Desaphy JF; Modoni A; Lomonaco M; Camerino DC
    Eur J Clin Pharmacol; 2013 Apr; 69(4):1037-9. PubMed ID: 23052413
    [No 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. 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]  

  • 32. Focal and abnormally persistent paralysis associated with congenital paramyotonia.
    Magot A; David A; Sternberg D; Péréon Y
    BMJ Case Rep; 2014 Jun; 2014():. PubMed ID: 24939454
    [TBL] [Abstract][Full Text] [Related]  

  • 33. Translational approach to address therapy in myotonia permanens due to a new SCN4A mutation.
    Desaphy JF; Carbonara R; D'Amico A; Modoni A; Roussel J; Imbrici P; Pagliarani S; Lucchiari S; Lo Monaco M; Conte Camerino D
    Neurology; 2016 May; 86(22):2100-8. PubMed ID: 27164696
    [TBL] [Abstract][Full Text] [Related]  

  • 34. [Clinical, myopathological and genetic features of two Chinese families with paramyotonia congenita].
    Song J; Zhang JW; Fu J; Pang M; Li G; Ma MM
    Zhonghua Nei Ke Za Zhi; 2020 Jul; 59(7):535-539. PubMed ID: 32594687
    [No Abstract]   [Full Text] [Related]  

  • 35. Congenital myopathy with "corona" fibres, selective muscle atrophy, and craniosynostosis associated with novel recessive mutations in SCN4A.
    Gonorazky HD; Marshall CR; Al-Murshed M; Hazrati LN; Thor MG; Hanna MG; Männikkö R; Ray PN; Yoon G
    Neuromuscul Disord; 2017 Jun; 27(6):574-580. PubMed ID: 28262468
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Severe neonatal non-dystrophic myotonia secondary to a novel mutation of the voltage-gated sodium channel (SCN4A) gene.
    Gay S; Dupuis D; Faivre L; Masurel-Paulet A; Labenne M; Colombani M; Soichot P; Huet F; Hainque B; Sternberg D; Fontaine B; Gouyon JB; Thauvin-Robinet C
    Am J Med Genet A; 2008 Feb; 146A(3):380-3. PubMed ID: 18203179
    [TBL] [Abstract][Full Text] [Related]  

  • 37. 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]  

  • 38. Myotonia permanens with Nav1.4-G1306E displays varied phenotypes during course of life.
    Lehmann-Horn F; D'Amico A; Bertini E; Lomonaco M; Merlini L; Nelson KR; Philippi H; Siciliano G; Spaans F; Jurkat-Rott K
    Acta Myol; 2017 Sep; 36(3):125-134. PubMed ID: 29774303
    [TBL] [Abstract][Full Text] [Related]  

  • 39. A zebrafish model of nondystrophic myotonia with sodium channelopathy.
    Nam TS; Zhang J; Chandrasekaran G; Jeong IY; Li W; Lee SH; Kang KW; Maeng JS; Kang H; Shin HY; Park HC; Kim S; Choi SY; Kim MK
    Neurosci Lett; 2020 Jan; 714():134579. PubMed ID: 31669315
    [TBL] [Abstract][Full Text] [Related]  

  • 40. SCN4A mutation as modifying factor of myotonic dystrophy type 2 phenotype.
    Bugiardini E; Rivolta I; Binda A; Soriano Caminero A; Cirillo F; Cinti A; Giovannoni R; Botta A; Cardani R; Wicklund MP; Meola G
    Neuromuscul Disord; 2015 Apr; 25(4):301-7. PubMed ID: 25660391
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 7.