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 *

217 related articles for article (PubMed ID: 8533761)

  • 41. Identification of two mutations and a polymorphism in the chloride channel CLCN-1 in patients with Becker's generalized myotonia.
    Esteban J; Neumeyer AM; McKenna-Yasek D; Brown RH
    Neurogenetics; 1998 Mar; 1(3):185-8. PubMed ID: 10737121
    [TBL] [Abstract][Full Text] [Related]  

  • 42. Phenotypic variability in myotonia congenita.
    Colding-Jørgensen E
    Muscle Nerve; 2005 Jul; 32(1):19-34. PubMed ID: 15786415
    [TBL] [Abstract][Full Text] [Related]  

  • 43. A Becker myotonia patient with compound heterozygosity for CLCN1 mutations and Prinzmetal angina pectoris.
    Zielonka D; Jurkat-Rott K; Stachowiak P; Bryl A; Marcinkowski JT; Lehmann-Horn F
    Neuromuscul Disord; 2012 Apr; 22(4):355-60. PubMed ID: 22197187
    [TBL] [Abstract][Full Text] [Related]  

  • 44. Clinical and molecular diagnosis of a Costa Rican family with autosomal recessive myotonia congenita (Becker disease) carrying a new mutation in the CLCN1 gene.
    Morales F; Cuenca P; del Valle G; Vásquez M; Brian R; Sittenfeld M; Johnson K; Lin X; Ashizawa T
    Rev Biol Trop; 2008 Mar; 56(1):1-11. PubMed ID: 18624224
    [TBL] [Abstract][Full Text] [Related]  

  • 45. [Compound heterozygous mutations in the muscle chloride channel gene (CLCN1) in a Japanese family with Thomsen's disease].
    Sasaki R; Takahashi MP; Kokunai Y; Hirayama M; Ibi T; Tomimoto H; Mochizuki H; Sahashi K
    Rinsho Shinkeigaku; 2013; 53(4):316-9. PubMed ID: 23603549
    [TBL] [Abstract][Full Text] [Related]  

  • 46. ClC-1 chloride channel mutations in myotonia congenita: variable penetrance of mutations shifting the voltage dependence.
    Kubisch C; Schmidt-Rose T; Fontaine B; Bretag AH; Jentsch TJ
    Hum Mol Genet; 1998 Oct; 7(11):1753-60. PubMed ID: 9736777
    [TBL] [Abstract][Full Text] [Related]  

  • 47. Phenotypic variability of autosomal dominant myotonia congenita in a Taiwanese family with muscle chloride channel (CLCN1) mutation.
    Chang TY; Kuo HC; Hsiao KM; Huang CC
    Acta Neurol Taiwan; 2007 Dec; 16(4):214-20. PubMed ID: 18220014
    [TBL] [Abstract][Full Text] [Related]  

  • 48. Clinical and molecular characteristics of myotonia congenita in China: Case series and a literature review.
    Li Y; Li M; Wang Z; Yang F; Wang H; Bai X; Sun B; Chen S; Huang X
    Channels (Austin); 2022 Dec; 16(1):35-46. PubMed ID: 35170402
    [TBL] [Abstract][Full Text] [Related]  

  • 49. Co-occurrence of DMPK expansion and CLCN1 mutation in a patient with myotonia.
    Locci S; Cardani R; Brunori P; Lucchiari S; Comi GP; Federico A; De Stefano N; Meola G; Mignarri A
    Neurol Sci; 2021 Dec; 42(12):5365-5368. PubMed ID: 34386887
    [TBL] [Abstract][Full Text] [Related]  

  • 50. Molecular basis of Thomsen's disease (autosomal dominant myotonia congenita).
    George AL; Crackower MA; Abdalla JA; Hudson AJ; Ebers GC
    Nat Genet; 1993 Apr; 3(4):305-10. PubMed ID: 7981750
    [TBL] [Abstract][Full Text] [Related]  

  • 51. Prevalence and mutation spectrum of skeletal muscle channelopathies in the Netherlands.
    Stunnenberg BC; Raaphorst J; Deenen JCW; Links TP; Wilde AA; Verbove DJ; Kamsteeg EJ; van den Wijngaard A; Faber CG; van der Wilt GJ; van Engelen BGM; Drost G; Ginjaar HB
    Neuromuscul Disord; 2018 May; 28(5):402-407. PubMed ID: 29606556
    [TBL] [Abstract][Full Text] [Related]  

  • 52. Screening for mutations in Spanish families with myotonia. Functional analysis of novel mutations in CLCN1 gene.
    Mazón MJ; Barros F; De la Peña P; Quesada JF; Escudero A; Cobo AM; Pascual-Pascual SI; Gutiérrez-Rivas E; Guillén E; Arpa J; Eraso P; Portillo F; Molano J
    Neuromuscul Disord; 2012 Mar; 22(3):231-43. PubMed ID: 22094069
    [TBL] [Abstract][Full Text] [Related]  

  • 53. Decrement of compound muscle action potential is related to mutation type in myotonia congenita.
    Colding-Jørgensen E; DunØ M; Schwartz M; Vissing J
    Muscle Nerve; 2003 Apr; 27(4):449-55. PubMed ID: 12661046
    [TBL] [Abstract][Full Text] [Related]  

  • 54. Truncating CLCN1 mutations in myotonia congenita: variable patterns of inheritance.
    Richardson RC; Tarleton JC; Bird TD; Gospe SM
    Muscle Nerve; 2014 Apr; 49(4):593-600. PubMed ID: 23893571
    [TBL] [Abstract][Full Text] [Related]  

  • 55. Becker's myotonia: novel mutations and clinical variability in patients born to consanguineous parents.
    Sahin I; Erdem HB; Tan H; Tatar A
    Acta Neurol Belg; 2018 Dec; 118(4):567-572. PubMed ID: 29480456
    [TBL] [Abstract][Full Text] [Related]  

  • 56. Congenital myotonia: a review of twenty cases and a new splice-site mutation in the CLCN1 gene.
    Özgün N; Taşlıdere H
    Turk J Pediatr; 2020; 62(3):450-460. PubMed ID: 32558419
    [TBL] [Abstract][Full Text] [Related]  

  • 57. Novel mutations at carboxyl terminus of CIC-1 channel in myotonia congenita.
    Kuo HC; Hsiao KM; Chang LI; You TH; Yeh TH; Huang CC
    Acta Neurol Scand; 2006 May; 113(5):342-6. PubMed ID: 16629771
    [TBL] [Abstract][Full Text] [Related]  

  • 58. Identification of two novel compound heterozygous
    Wei Z; Huaxing M; Xiaomei W; Juan W; Xueli C; Jing Z; Junhong G
    Neurol Res; 2019 Dec; 41(12):1069-1074. PubMed ID: 31566103
    [No Abstract]   [Full Text] [Related]  

  • 59. Translating genetic and functional data into clinical practice: a series of 223 families with myotonia.
    Suetterlin K; Matthews E; Sud R; McCall S; Fialho D; Burge J; Jayaseelan D; Haworth A; Sweeney MG; Kullmann DM; Schorge S; Hanna MG; Männikkö R
    Brain; 2022 Apr; 145(2):607-620. PubMed ID: 34529042
    [TBL] [Abstract][Full Text] [Related]  

  • 60. Identification of functionally important regions of the muscular chloride channel CIC-1 by analysis of recessive and dominant myotonic mutations.
    Wollnik B; Kubisch C; Steinmeyer K; Pusch M
    Hum Mol Genet; 1997 May; 6(5):805-11. PubMed ID: 9158157
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.