Associated Papers
LAMA2 variants associated with muscular dystrophy, brain structural abnormalities, and epilepsy: a genotype-phenotype study.
Zha J et al.
Frontiers in Neurology, 2025
Burden of Mendelian disorders in a large Middle Eastern biobank.
Aamer W et al.
Genome Medicine, 2024
38584274 (PubMed )
Supplement: 13073_2024_1307_MOESM1_ESM.xlsx › Table_S3
Brain MRI Abnormalities, Epilepsy and Intellectual Disability in LAMA2 Related Dystrophy - a Genotype/Phenotype Correlation.
Camelo CG et al.
Journal of Neuromuscular Diseases, 2023
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
The combination of whole-exome sequencing and copy number variation sequencing enables the diagnosis of rare neurological disorders.
Jiao Q et al.
Clinical Genetics, 2019
A comprehensive assessment of Next-Generation Sequencing variants validation using a secondary technology.
Zheng J et al.
Molecular Genetics & Genomic Medicine, 2019
31165590 (PubMed )
Supplement: MGG3-7-e00748-s004.xlsx › Variants_information
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
Clonal architectures and driver mutations in metastatic melanomas.
Ding L et al.
Plos One, 2014
25393105 (PubMed )
Supplement: pone.0111153.s002.zip › File_S2 › Table_S11.xls › Supp_Table_11
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