Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Spatial proteomics reveals recombinant human laminin-111 restores adhesion signaling to laminin-α2-deficient muscle.
Hermann HJ et al.
Jci Insight, 2025
Identification of intragenic variants in pediatric patients with intellectual disability in Peru.
Abarca-Barriga HH et al.
Bmc Medical Genomics, 2025
LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.
Zha J et al.
Frontiers in Neurology, 2025
Phenotype-genotype spectrum of a cohort of congenital muscular dystrophies: a single-centre experience from India.
Chawla T et al.
Neurogenetics, 2024
Exploring Splice-Site Mutations in LAMA2-Related Muscular Dystrophies: A Comprehensive Analysis of Genotypic and Phenotypic Patterns.
Nmer S et al.
Cureus, 2024
Natural history and genetic study of LAMA2-related muscular dystrophy in a large Chinese cohort.
Tan D et al.
Orphanet Journal of Rare Diseases, 2021
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 et al.
Bmc Medical Genomics, 2021
Epithelial Cells of Deep Infiltrating Endometriosis Harbor Mutations in Cancer Driver Genes.
Koppolu A et al.
Cells, 2021
Whole-exome analyses of congenital muscular dystrophy and congenital myopathy patients from India reveal a wide spectrum of known and novel mutations.
Sanga S et al.
European Journal of Neurology, 2021
Deletion of exon 4 in LAMA2 is the most frequent mutation in Chinese patients with laminin α2-related muscular dystrophy.
Ge L et al.
Scientific Reports, 2018
[Duchenne and Becker muscular dystrophy complicated with epilepsy].
Cuijie W et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2015
Genotype/phenotype analysis in Chinese laminin-α2 deficient congenital muscular dystrophy patients.
Xiong H et al.
Clinical Genetics, 2015
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