141 related articles for article (PubMed ID: 30147969)
1. LAMA2 Congenital Muscle Dystrophy: A Novel Pathogenic Mutation in Bulgarian Patient.
Dimova I; Kremensky I
Case Rep Genet; 2018; 2018():3028145. PubMed ID: 30147969
[TBL] [Abstract][Full Text] [Related]
2. Identification of a compound heterozygous missense mutation in LAMA2 gene from a patient with merosin-deficient congenital muscular dystrophy type 1A.
Khorrami A; Goleij P; Karamad V; Taheri E; Shadman B; Emami P; Jahangirzadeh G; Hajazimian S; Isazadeh A; Baradaran B; Heidari M
J Clin Lab Anal; 2021 Nov; 35(11):e23930. PubMed ID: 34528292
[TBL] [Abstract][Full Text] [Related]
3. Identification of a novel LAMA2 c.2217G > A, p.(Trp739*) mutation in a Moroccan patient with congenital muscular dystrophy: a case report.
El Kadiri Y; Ratbi I; Laarabi FZ; Kriouile Y; Sefiani A; Lyahyai J
BMC Med Genomics; 2021 Apr; 14(1):113. PubMed ID: 33882917
[TBL] [Abstract][Full Text] [Related]
4. Current understanding and treatment of cardiac and skeletal muscle pathology in laminin-α2 chain-deficient congenital muscular dystrophy.
Nguyen Q; Lim KRQ; Yokota T
Appl Clin Genet; 2019; 12():113-130. PubMed ID: 31308722
[TBL] [Abstract][Full Text] [Related]
5. Merosin-deficient congenital muscular dystrophy type 1a: detection of
Tran VK; Nguyen NL; Tran LNT; Le PT; Tran AH; Pham TLA; Lien NTK; Xuan NT; Thanh LT; Ta TV; Tran TH; Nguyen HH
Front Genet; 2023; 14():1183663. PubMed ID: 37388928
[No Abstract] [Full Text] [Related]
6. Merosin-deficient congenital muscular dystrophy: A novel homozygous mutation in the laminin-2 gene.
Turner C; Mein R; Sharpe C; Love DR
J Clin Neurosci; 2015 Dec; 22(12):1983-5. PubMed ID: 26249246
[TBL] [Abstract][Full Text] [Related]
7. Rare variant in
Amin M; Bakhit Y; Koko M; Ibrahim MOM; Salih MA; Ibrahim M; Seidi OA
Acta Myol; 2019 Mar; 38(1):21-24. PubMed ID: 31309178
[TBL] [Abstract][Full Text] [Related]
8. Zebrafish Models of
Fabian L; Dowling JJ
Front Mol Neurosci; 2020; 13():122. PubMed ID: 32742259
[TBL] [Abstract][Full Text] [Related]
9. Natural history, outcome measures and trial readiness in LAMA2-related muscular dystrophy and SELENON-related myopathy in children and adults: protocol of the LAST STRONG study.
Bouman K; Groothuis JT; Doorduin J; van Alfen N; Udink Ten Cate FEA; van den Heuvel FMA; Nijveldt R; van Tilburg WCM; Buckens SCFM; Dittrich ATM; Draaisma JMT; Janssen MCH; Kamsteeg EJ; van Kleef ESB; Koene S; Smeitink JAM; Küsters B; van Tienen FHJ; Smeets HJM; van Engelen BGM; Erasmus CE; Voermans NC
BMC Neurol; 2021 Aug; 21(1):313. PubMed ID: 34384384
[TBL] [Abstract][Full Text] [Related]
10. Clinical and molecular genetic analysis of a family with late-onset LAMA2-related muscular dystrophy.
Ding J; Zhao D; Du R; Zhang Y; Yang H; Liu J; Yan C; Zhang F; Xiong H
Brain Dev; 2016 Feb; 38(2):242-9. PubMed ID: 26304763
[TBL] [Abstract][Full Text] [Related]
11. Novel mutation identification and copy number variant detection via exome sequencing in congenital muscular dystrophy.
Cauley ES; Pittman A; Mummidivarpu S; Karimiani EG; Martinez S; Moroni I; Boostani R; Podini D; Mora M; Jamshidi Y; Hoffman EP; Manzini MC
Mol Genet Genomic Med; 2020 Nov; 8(11):e1387. PubMed ID: 32936536
[TBL] [Abstract][Full Text] [Related]
12. Whole exome sequencing identified a novel LAMA2 frameshift variant causing merosin-deficient congenital muscular dystrophy in a patient with cardiomyopathy, and autism-like behavior.
Nouri Z; Sarmadi A; Narrei S; Sehhati M; Tabatabaiefar MA
Neuromuscul Disord; 2022 Sep; 32(9):776-784. PubMed ID: 35989179
[TBL] [Abstract][Full Text] [Related]
13. A splice site mutation in laminin-α2 results in a severe muscular dystrophy and growth abnormalities in zebrafish.
Gupta VA; Kawahara G; Myers JA; Chen AT; Hall TE; Manzini MC; Currie PD; Zhou Y; Zon LI; Kunkel LM; Beggs AH
PLoS One; 2012; 7(8):e43794. PubMed ID: 22952766
[TBL] [Abstract][Full Text] [Related]
14. LAMA2-related myopathy: Frequency among congenital and limb-girdle muscular dystrophies.
Løkken N; Born AP; Duno M; Vissing J
Muscle Nerve; 2015 Oct; 52(4):547-53. PubMed ID: 25663498
[TBL] [Abstract][Full Text] [Related]
15. Limb girdle muscular dystrophy 23 caused by compound heterozygous mutations of
Xu Y; Zhu L; Qian Y; Dong M
Front Pediatr; 2023; 11():1191068. PubMed ID: 37404563
[TBL] [Abstract][Full Text] [Related]
16. A Mosaic Mutation in the
Chausova PA; Ryzhkova OP; Rudenskaya GE; Chernykh VB; Shchagina OA; Polyakov AV
Front Genet; 2021; 12():686800. PubMed ID: 34777456
[TBL] [Abstract][Full Text] [Related]
17. Genetics of laminin alpha 2 chain (or merosin) deficient congenital muscular dystrophy: from identification of mutations to prenatal diagnosis.
Guicheney P; Vignier N; Helbling-Leclerc A; Nissinen M; Zhang X; Cruaud C; Lambert JC; Richelme C; Topaloglu H; Merlini L; Barois A; Schwartz K; Tomé FM; Tryggvason K; Fardeau M
Neuromuscul Disord; 1997 May; 7(3):180-6. PubMed ID: 9185182
[TBL] [Abstract][Full Text] [Related]
18. LAMA2 gene analysis in a cohort of 26 congenital muscular dystrophy patients.
Oliveira J; Santos R; Soares-Silva I; Jorge P; Vieira E; Oliveira ME; Moreira A; Coelho T; Ferreira JC; Fonseca MJ; Barbosa C; Prats J; Aríztegui ML; Martins ML; Moreno T; Heinimann K; Barbot C; Pascual-Pascual SI; Cabral A; Fineza I; Santos M; Bronze-da-Rocha E
Clin Genet; 2008 Dec; 74(6):502-12. PubMed ID: 18700894
[TBL] [Abstract][Full Text] [Related]
19. Mutations in LAMA2 and CAPN3 genes associated with genetic and phenotypic heterogeneities within a single consanguineous family involving both congenital and progressive muscular dystrophies.
Hadj Salem I; Kamoun F; Louhichi N; Rouis S; Mziou M; Fendri-Kriaa N; Makni-Ayadi F; Triki C; Fakhfakh F
Biosci Rep; 2011 Apr; 31(2):125-35. PubMed ID: 20477750
[TBL] [Abstract][Full Text] [Related]
20. Severe MDC1A congenital muscular dystrophy due to a splicing mutation in the LAMA2 gene resulting in exon skipping and significant decrease of mRNA level.
Siala O; Louhichi N; Triki C; Morinière M; Rebai A; Richard P; Guicheney P; Baklouti F; Fakhfakh F
Genet Test; 2007; 11(3):199-207. PubMed ID: 17949279
[TBL] [Abstract][Full Text] [Related]
[Next] [New Search]