These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

153 related articles for article (PubMed ID: 32593548)

  • 41. 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]  

  • 42. A novel mutation in SCN4A causes severe myotonia and school-age-onset paralytic episodes.
    Yoshinaga H; Sakoda S; Good JM; Takahashi MP; Kubota T; Arikawa-Hirasawa E; Nakata T; Ohno K; Kitamura T; Kobayashi K; Ohtsuka Y
    J Neurol Sci; 2012 Apr; 315(1-2):15-9. PubMed ID: 22257501
    [TBL] [Abstract][Full Text] [Related]  

  • 43. Dysfunction of NaV1.4, a skeletal muscle voltage-gated sodium channel, in sudden infant death syndrome: a case-control study.
    Männikkö R; Wong L; Tester DJ; Thor MG; Sud R; Kullmann DM; Sweeney MG; Leu C; Sisodiya SM; FitzPatrick DR; Evans MJ; Jeffrey IJM; Tfelt-Hansen J; Cohen MC; Fleming PJ; Jaye A; Simpson MA; Ackerman MJ; Hanna MG; Behr ER; Matthews E
    Lancet; 2018 Apr; 391(10129):1483-1492. PubMed ID: 29605429
    [TBL] [Abstract][Full Text] [Related]  

  • 44. 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]  

  • 45. 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]  

  • 46. Guidelines on clinical presentation and management of nondystrophic myotonias.
    Stunnenberg BC; LoRusso S; Arnold WD; Barohn RJ; Cannon SC; Fontaine B; Griggs RC; Hanna MG; Matthews E; Meola G; Sansone VA; Trivedi JR; van Engelen BGM; Vicart S; Statland JM
    Muscle Nerve; 2020 Oct; 62(4):430-444. PubMed ID: 32270509
    [TBL] [Abstract][Full Text] [Related]  

  • 47. 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]  

  • 48. Case report: Sodium and chloride muscle channelopathy coexistence: A complicated phenotype and a challenging diagnosis.
    Pagliarani S; Meola G; Filareti M; Comi GP; Lucchiari S
    Front Neurol; 2022; 13():845383. PubMed ID: 36081873
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Double trouble in a patient with myotonia.
    Hehir MK; Logigian E; Raja Rayan DL; Ciafaloni E
    BMJ Case Rep; 2013 Feb; 2013():. PubMed ID: 23417379
    [TBL] [Abstract][Full Text] [Related]  

  • 50. EF hand-like motif mutations of Nav1.4 C-terminus cause myotonic syndrome by impairing fast inactivation.
    Horie R; Kubota T; Koh J; Tanaka R; Nakamura Y; Sasaki R; Ito H; Takahashi MP
    Muscle Nerve; 2020 Jun; 61(6):808-814. PubMed ID: 32129495
    [TBL] [Abstract][Full Text] [Related]  

  • 51. 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]  

  • 52. The Clinical, Myopathological, and Genetic Analysis of 20 Patients With Non-dystrophic Myotonia.
    Wang Q; Zhao Z; Shen H; Bing Q; Li N; Hu J
    Front Neurol; 2022; 13():830707. PubMed ID: 35350395
    [TBL] [Abstract][Full Text] [Related]  

  • 53. New phenotype of severe neonatal episodic laryngospasm due to a missense mutation in SCN4A: A case report and literature review.
    Xi Q; Yi L; Zhou W; Chen J; Yang Z
    Zhong Nan Da Xue Xue Bao Yi Xue Ban; 2021 Dec; 46(12):1430-1436. PubMed ID: 35232915
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Treatment of SCN4A-induced myotonic crisis.
    Ritter DM; Tian C; Broomall E
    Muscle Nerve; 2021 Jun; 63(6):E59-E61. PubMed ID: 33745142
    [No Abstract]   [Full Text] [Related]  

  • 55. Autosomal dominant monosymptomatic myotonia permanens.
    Colding-Jørgensen E; Duno M; Vissing J
    Neurology; 2006 Jul; 67(1):153-5. PubMed ID: 16832098
    [TBL] [Abstract][Full Text] [Related]  

  • 56. [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]  

  • 57. The antimyotonic effect of lamotrigine in non-dystrophic myotonias: a double-blind randomized study.
    Andersen G; Hedermann G; Witting N; Duno M; Andersen H; Vissing J
    Brain; 2017 Sep; 140(9):2295-2305. PubMed ID: 29050397
    [TBL] [Abstract][Full Text] [Related]  

  • 58. 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]  

  • 59. 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]  

  • 60. 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]  

    [Previous]   [Next]    [New Search]
    of 8.