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 *

135 related articles for article (PubMed ID: 27639085)

  • 1. Genotype-phenotype correlation of F484L mutation in three Italian families with Thomsen myotonia.
    Cassone M; Ferradini V; Longo G; Sarchielli P; Murasecco D; Romoli M; Pasquini E; Novelli G; Prontera P; Sangiuolo F
    Muscle Nerve; 2017 Jun; 55(6):E24-E25. PubMed ID: 27639085
    [No Abstract]   [Full Text] [Related]  

  • 2. Thomsen or Becker myotonia? A novel autosomal recessive nonsense mutation in the CLCN1 gene associated with a mild phenotype.
    Gurgel-Giannetti J; Senkevics AS; Zilbersztajn-Gotlieb D; Yamamoto LU; Muniz VP; Pavanello RC; Oliveira AB; Zatz M; Vainzof M
    Muscle Nerve; 2012 Feb; 45(2):279-83. PubMed ID: 22246887
    [TBL] [Abstract][Full Text] [Related]  

  • 3. Novel mutations in the CLCN1 gene of myotonia congenita: 2 case reports.
    Lakraj AA; Miller G; Vortmeyer AO; Khokhar B; Nowak RJ; DiCapua DB
    Yale J Biol Med; 2013 Mar; 86(1):101-6. PubMed ID: 23483815
    [TBL] [Abstract][Full Text] [Related]  

  • 4. Association of Three Different Mutations in the CLCN1 Gene Modulating the Phenotype in a Consanguineous Family with Myotonia Congenita.
    Souza LS; Calyjur P; Ribeiro AF; Gurgel-Giannetti J; Pavanello RCM; Zatz M; Vainzof M
    J Mol Neurosci; 2021 Nov; 71(11):2275-2280. PubMed ID: 33464536
    [TBL] [Abstract][Full Text] [Related]  

  • 5. ClC-1 mutations in myotonia congenita patients: insights into molecular gating mechanisms and genotype-phenotype correlation.
    Imbrici P; Maggi L; Mangiatordi GF; Dinardo MM; Altamura C; Brugnoni R; Alberga D; Pinter GL; Ricci G; Siciliano G; Micheli R; Annicchiarico G; Lattanzi G; Nicolotti O; Morandi L; Bernasconi P; Desaphy JF; Mantegazza R; Camerino DC
    J Physiol; 2015 Sep; 593(18):4181-99. PubMed ID: 26096614
    [TBL] [Abstract][Full Text] [Related]  

  • 6. Myotonia congenita in a Greek cohort: Genotype spectrum and impact of the CLCN1:c.501C > G variant as a genetic modifier.
    Marinakis NM; Svingou M; Papadimas GK; Papadopoulos C; Chroni E; Pons R; Pavlou E; Sarmas I; Kosma K; Apostolou P; Sofocleous C; Traeger-Synodinos J; Kekou K
    Muscle Nerve; 2024 Aug; 70(2):240-247. PubMed ID: 38855810
    [TBL] [Abstract][Full Text] [Related]  

  • 7. 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]  

  • 8. Myotonia congenita: novel mutations in CLCN1 gene.
    Liu XL; Huang XJ; Shen JY; Zhou HY; Luan XH; Wang T; Chen SD; Wang Y; Tang HD; Cao L
    Channels (Austin); 2015; 9(5):292-8. PubMed ID: 26260254
    [TBL] [Abstract][Full Text] [Related]  

  • 9. A novel CLCN1 mutation (G1652A) causing a mild phenotype of thomsen disease.
    Kumar KR; Ng K; Vandebona H; Davis MR; Sue CM
    Muscle Nerve; 2010 Mar; 41(3):412-5. PubMed ID: 20120005
    [TBL] [Abstract][Full Text] [Related]  

  • 10. Novel Lys215Asn mutation in an Italian family with Thomsen myotonia.
    Mantero V; Lucchiari S; Balgera R; Comi GP; Salmaggi A; Rigamonti A
    Neurol Sci; 2018 Aug; 39(8):1491-1492. PubMed ID: 29546603
    [No Abstract]   [Full Text] [Related]  

  • 11. [A pedigree of myotonia congenita with a novel mutation p.F343C of the CLCN1 gene].
    Nakamura Y; Sato H; Kakiuchi K; Miyano Y; Hosokawa T; Arawaka S
    Rinsho Shinkeigaku; 2024 May; 64(5):344-348. PubMed ID: 38644209
    [TBL] [Abstract][Full Text] [Related]  

  • 12. Novel CLCN1 mutation in carbamazepine-responsive myotonia congenita.
    Lyons MJ; Duron R; Molinero I; Sangiuolo F; Holden KR
    Pediatr Neurol; 2010 May; 42(5):365-8. PubMed ID: 20399394
    [TBL] [Abstract][Full Text] [Related]  

  • 13. [Analysis of CLCN1 gene mutations in 2 patients with myotonia congenita].
    Chen ZT; He J; Chen WJ; Chen SG; Lin JL; Ye QY; Huang HP
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2012 Dec; 29(6):690-2. PubMed ID: 23225051
    [TBL] [Abstract][Full Text] [Related]  

  • 14. Targeted Next Generation Sequencing in patients with Myotonia Congenita.
    Ferradini V; Cassone M; Nuovo S; Bagni I; D'Apice MR; Botta A; Novelli G; Sangiuolo F
    Clin Chim Acta; 2017 Jul; 470():1-7. PubMed ID: 28427807
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Recessive CLCN1 mutation presenting as Thomsen disease.
    Thomas J; Tarleton J; Baker SK
    Muscle Nerve; 2008 Nov; 38(5):1515-1517. PubMed ID: 18816629
    [TBL] [Abstract][Full Text] [Related]  

  • 16. Novel mutations in the muscle chloride channel CLCN1 gene causing myotonia congenita in Spanish families.
    de Diego C; Gámez J; Plassart-Schiess E; Lasa A; Del Río E; Cervera C; Baiget M; Gallano P; Fontaine B
    J Neurol; 1999 Sep; 246(9):825-9. PubMed ID: 10525982
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. 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]  

  • 19. 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]  

  • 20. Structural modeling of altered CLCN1 conformation following a novel mutation in a patient affected by autosomal dominant myotonia congenita (Thomsen disease).
    Ferese R; Albano V; Falconi M; Iacovelli F; Campopiano R; Scala S; Griguoli AM; Gaglione A; Giardina E; Zampatti S; Storto M; Fornai F; D'Alessio C; Novelli G; Gambardella S
    Arch Ital Biol; 2017 Dec; 155(4):118-130. PubMed ID: 29405036
    [No Abstract]   [Full Text] [Related]  

    [Next]    [New Search]
    of 7.