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 *

138 related articles for article (PubMed ID: 32619119)

  • 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. Skeletal-muscle channelopathies: periodic paralysis and nondystrophic myotonias.
    Ryan AM; Matthews E; Hanna MG
    Curr Opin Neurol; 2007 Oct; 20(5):558-63. PubMed ID: 17885445
    [TBL] [Abstract][Full Text] [Related]  

  • 23. Clinical and Molecular Spectrum of Myotonia and Periodic Paralyses Associated With Mutations in
    Maggi L; Brugnoni R; Canioni E; Tonin P; Saletti V; Sola P; Piccinelli SC; Colleoni L; Ferrigno P; Pini A; Masson R; Manganelli F; Lietti D; Vercelli L; Ricci G; Bruno C; Tasca G; Pizzuti A; Padovani A; Fusco C; Pegoraro E; Ruggiero L; Ravaglia S; Siciliano G; Morandi L; Dubbioso R; Mongini T; Filosto M; Tramacere I; Mantegazza R; Bernasconi P
    Front Neurol; 2020; 11():646. PubMed ID: 32849172
    [No Abstract]   [Full Text] [Related]  

  • 24. Targeted Therapies for Skeletal Muscle Ion Channelopathies: Systematic Review and Steps Towards Precision Medicine.
    Desaphy JF; Altamura C; Vicart S; Fontaine B
    J Neuromuscul Dis; 2021; 8(3):357-381. PubMed ID: 33325393
    [TBL] [Abstract][Full Text] [Related]  

  • 25. 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]  

  • 26. 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]  

  • 27. Inherited ion channel disorders.
    Surtees R
    Eur J Pediatr; 2000 Dec; 159 Suppl 3():S199-203. PubMed ID: 11216900
    [TBL] [Abstract][Full Text] [Related]  

  • 28. [Clinical and molecular genetic analysis of a family with normokalemic periodic paralysis].
    Wei CJ; Wang D; Wang S; Jiao H; Hong DJ; Pu LH; Xiong H
    Zhonghua Er Ke Za Zhi; 2013 Jan; 51(1):47-51. PubMed ID: 23527931
    [TBL] [Abstract][Full Text] [Related]  

  • 29. Muscle biopsy and cell cultures: potential diagnostic tools in hereditary skeletal muscle channelopathies.
    Meola G; Sansone V; Rotondo G; Mancinelli E
    Eur J Histochem; 2003; 47(1):17-28. PubMed ID: 12685554
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Mutations of SCN4A gene cause different diseases: 2 case reports and literature review.
    Liu XL; Huang XJ; Luan XH; Zhou HY; Wang T; Wang JY; Chen SD; Tang HD; Cao L
    Channels (Austin); 2015; 9(2):82-7. PubMed ID: 25839108
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Muscle and brain sodium channelopathies: genetic causes, clinical phenotypes, and management approaches.
    Matthews E; Balestrini S; Sisodiya SM; Hanna MG
    Lancet Child Adolesc Health; 2020 Jul; 4(7):536-547. PubMed ID: 32142633
    [TBL] [Abstract][Full Text] [Related]  

  • 32. 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]  

  • 33. Isolated eyelid closure myotonia in two families with sodium channel myotonia.
    Stunnenberg BC; Ginjaar HB; Trip J; Faber CG; van Engelen BG; Drost G
    Neurogenetics; 2010 May; 11(2):257-60. PubMed ID: 19876661
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Sodium Channel Gene Variants in Fetuses with Abnormal Sonographic Findings: Expanding the Prenatal Phenotypic Spectrum of Sodium Channelopathies.
    Hadjipanteli A; Theodosiou A; Papaevripidou I; Evangelidou P; Alexandrou A; Salameh N; Kallikas I; Kakoullis K; Frakala S; Oxinou C; Marnerides A; Kousoulidou L; Anastasiadou VC; Sismani C
    Genes (Basel); 2024 Jan; 15(1):. PubMed ID: 38255008
    [TBL] [Abstract][Full Text] [Related]  

  • 35. Sodium channelopathies of skeletal muscle and brain.
    Mantegazza M; Cestèle S; Catterall WA
    Physiol Rev; 2021 Oct; 101(4):1633-1689. PubMed ID: 33769100
    [TBL] [Abstract][Full Text] [Related]  

  • 36. Homozygosity for dominant mutations increases severity of muscle channelopathies.
    Arzel-Hézode M; Sternberg D; Tabti N; Vicart S; Goizet C; Eymard B; Fontaine B; Fournier E
    Muscle Nerve; 2010 Apr; 41(4):470-7. PubMed ID: 19882638
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Skeletal Muscle MicroRNAs as Key Players in the Pathogenesis of Amyotrophic Lateral Sclerosis.
    Di Pietro L; Lattanzi W; Bernardini C
    Int J Mol Sci; 2018 May; 19(5):. PubMed ID: 29786645
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Human skeletal muscle sodium channelopathies.
    Vicart S; Sternberg D; Fontaine B; Meola G
    Neurol Sci; 2005 Oct; 26(4):194-202. PubMed ID: 16193245
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Hot-spot KIF5A mutations cause familial ALS.
    Brenner D; Yilmaz R; Müller K; Grehl T; Petri S; Meyer T; Grosskreutz J; Weydt P; Ruf W; Neuwirth C; Weber M; Pinto S; Claeys KG; Schrank B; Jordan B; Knehr A; Günther K; Hübers A; Zeller D; Kubisch C; Jablonka S; Sendtner M; Klopstock T; de Carvalho M; Sperfeld A; Borck G; Volk AE; Dorst J; Weis J; Otto M; Schuster J; Del Tredici K; Braak H; Danzer KM; Freischmidt A; Meitinger T; Strom TM; Ludolph AC; Andersen PM; Weishaupt JH;
    Brain; 2018 Mar; 141(3):688-697. PubMed ID: 29342275
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Amyotrophic lateral sclerosis patient antibodies label Ca2+ channel alpha 1 subunit.
    Kimura F; Smith RG; Delbono O; Nyormoi O; Schneider T; Nastainczyk W; Hofmann F; Stefani E; Appel SH
    Ann Neurol; 1994 Feb; 35(2):164-71. PubMed ID: 8109897
    [TBL] [Abstract][Full Text] [Related]  

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