Associated Papers
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Engineering of a high-fidelity Cas12a nuclease variant capable of allele-specific editing.
Wei J et al.
Plos Biology, 2024
38865309 (PubMed )
Supplement: pbio.3002680.s016.xlsx › ClinVar
Harnessing human genetics and stem cells for precision cardiovascular medicine.
Caudal A et al.
Cell Genomics, 2024
Gene copy number variation and pediatric mental health/neurodevelopment in a general population.
Zarrei M et al.
Human Molecular Genetics, 2023
37154571 (PubMed )
Supplement: supplementary_table_s3_ddad074.xlsx › OSC-CNTN6_CNTN4
Diagnostic interest of whole-body MRI in early- and late-onset LAMA2 muscular dystrophies: a large international cohort.
Quijano-Roy S et al.
Journal of Neurology, 2022
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
Merosin-deficient congenital muscular dystrophy, autosomal recessive (MDC1A, MIM#156225, LAMA2 gene coding for alpha2 chain of laminin).
Allamand V et al.
European Journal of Human Genetics : Ejhg, 2002
Laminin alpha2 muscular dystrophy: genotype/phenotype studies of 22 patients.
Pegoraro E et al.
Neurology, 1998
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