BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

161 related articles for article (PubMed ID: 37106355)

  • 1. Neutral lipid storage disease with myopathy and myotonia associated to pathogenic variants on PNPLA2 and CLCN1 genes: case report.
    Landim JID; Ribeiro IS; Oliveira EB; Freitas HC; Brito LA; Maia IHM; Távora DGF; Rodrigues CL
    BMC Neurol; 2023 Apr; 23(1):171. PubMed ID: 37106355
    [TBL] [Abstract][Full Text] [Related]  

  • 2. 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]  

  • 3. [Congenital myotonia. Incidence and presentation of a series of cases].
    Martos-Lirio MF; Calvo-Medina R; Ruiz-García C; Ramos-Fernández JM
    Rev Neurol; 2023 Feb; 76(4):147-150. PubMed ID: 36782350
    [TBL] [Abstract][Full Text] [Related]  

  • 4. [The spectrum of CLCN1 gene mutations in patients with nondystrophic Thomsen's and Becker's myotonias].
    Ivanova EA; Dadali EL; Fedotov VP; Kurbatov SA; Rudenskaia GE; Proskokova TN; Poliakov AV
    Genetika; 2012 Sep; 48(9):1113-23. PubMed ID: 23113340
    [TBL] [Abstract][Full Text] [Related]  

  • 5. [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]  

  • 6. Brody disease: when myotonia is not myotonia.
    Braz L; Soares-Dos-Reis R; Seabra M; Silveira F; Guimarães J
    Pract Neurol; 2019 Oct; 19(5):417-419. PubMed ID: 30996034
    [TBL] [Abstract][Full Text] [Related]  

  • 7. Myotonia levior is a chloride channel disorder.
    Lehmann-Horn F; Mailänder V; Heine R; George AL
    Hum Mol Genet; 1995 Aug; 4(8):1397-402. PubMed ID: 7581380
    [TBL] [Abstract][Full Text] [Related]  

  • 8. A myopathy with unusual features caused by PNPLA2 gene mutations.
    Pennisi EM; Missaglia S; Dimauro S; Bernardi C; Akman HO; Tavian D
    Muscle Nerve; 2015 Apr; 51(4):609-13. PubMed ID: 25287355
    [TBL] [Abstract][Full Text] [Related]  

  • 9. 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]  

  • 10. Mutations in the human skeletal muscle chloride channel gene (CLCN1) associated with dominant and recessive myotonia congenita.
    Zhang J; George AL; Griggs RC; Fouad GT; Roberts J; Kwieciński H; Connolly AM; Ptácek LJ
    Neurology; 1996 Oct; 47(4):993-8. PubMed ID: 8857733
    [TBL] [Abstract][Full Text] [Related]  

  • 11. Difference in allelic expression of the CLCN1 gene and the possible influence on the myotonia congenita phenotype.
    Dunø M; Colding-Jørgensen E; Grunnet M; Jespersen T; Vissing J; Schwartz M
    Eur J Hum Genet; 2004 Sep; 12(9):738-43. PubMed ID: 15162127
    [TBL] [Abstract][Full Text] [Related]  

  • 12. 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]  

  • 13. Novel PNPLA2 gene mutation in a child causing neutral lipid storage disease with myopathy.
    Zheng S; Liao W
    BMC Med Genet; 2018 Sep; 19(1):172. PubMed ID: 30223778
    [TBL] [Abstract][Full Text] [Related]  

  • 14. A novel CLCN1 mutation: P480T in a Japanese family with Thomsen's myotonia congenita.
    Sasaki R; Ito N; Shimamura M; Murakami T; Kuzuhara S; Uchino M; Uyama E
    Muscle Nerve; 2001 Mar; 24(3):357-63. PubMed ID: 11353420
    [TBL] [Abstract][Full Text] [Related]  

  • 15. Novel missense mutations in PNPLA2 causing late onset and clinical heterogeneity of neutral lipid storage disease with myopathy in three siblings.
    Missaglia S; Tasca E; Angelini C; Moro L; Tavian D
    Mol Genet Metab; 2015; 115(2-3):110-7. PubMed ID: 25956450
    [TBL] [Abstract][Full Text] [Related]  

  • 16. A complex
    Chimenes ND; Caramalac SM; Caramalac SM; Fernandes TD; Basso RM; Cerri FM; Oliveira-Filho JP; Borges AS; Palumbo MIP
    J Vet Diagn Invest; 2023 Jul; 35(4):413-416. PubMed ID: 37212506
    [TBL] [Abstract][Full Text] [Related]  

  • 17. 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]  

  • 18. Recessive myotonia congenita caused by a homozygous splice site variant in CLCN1 gene: a case report.
    Sparber P; Sharova M; Filatova A; Shchagina O; Ivanova E; Dadali E; Skoblov M
    BMC Med Genet; 2020 Oct; 21(Suppl 1):197. PubMed ID: 33092578
    [TBL] [Abstract][Full Text] [Related]  

  • 19. 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]  

  • 20. Patients with neutral lipid storage disease with myopathy (NLSDM) in Southwestern China.
    Tan J; Yang H; Fan J; Fan Y; Xiao F
    Clin Neurol Neurosurg; 2018 May; 168():102-107. PubMed ID: 29539587
    [TBL] [Abstract][Full Text] [Related]  

    [Next]    [New Search]
    of 9.