Associated Papers
Evaluation of Readthrough Efficiency of Negamycin Derivatives against Nonsense Mutations in Muscular Dystrophy Genes.
Omura N et al.
Biological & Pharmaceutical Bulletin, 2026
A Spectrum of Pathogenic Variants in the LAMA2 Gene in the Russian Federation.
Chausova P et al.
International Journal of Molecular Sciences, 2025
Germline predisposition in multiple myeloma.
Martins Rodrigues F et al.
Iscience, 2025
Genetic blueprint of congenital muscular dystrophies with brain malformations in Egypt: A report of 11 families.
Safwat S et al.
Neurogenetics, 2024
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
LAMA2-related muscular dystrophy: Natural history of a large pediatric cohort.
Zambon AA et al.
Annals of Clinical and Translational Neurology, 2020
Limb girdle muscular dystrophy due to LAMA2 gene mutations: new mutations expand the clinical spectrum of a still challenging diagnosis.
Magri F et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2020
LAMA2-Related Dystrophies: Clinical Phenotypes, Disease Biomarkers, and Clinical Trial Readiness.
Sarkozy A et al.
Frontiers in Molecular Neuroscience, 2020
LAMA2 gene mutation update: Toward a more comprehensive picture of the laminin-α2 variome and its related phenotypes.
Oliveira J et al.
Human Mutation, 2018
Laminin α2 Deficiency-Related Muscular Dystrophy Mimicking Emery-Dreifuss and Collagen VI related Diseases.
Nelson I et al.
Journal of Neuromuscular Diseases, 2015
Atypical phenotype in two patients with LAMA2 mutations.
Marques J et al.
Neuromuscular Disorders : Nmd, 2014
Genotype-phenotype correlation in a large population of muscular dystrophy patients with LAMA2 mutations.
Geranmayeh F et al.
Neuromuscular Disorders : Nmd, 2010
A novel laminin alpha2 isoform in severe laminin alpha2 deficient congenital muscular dystrophy.
Pegoraro E et al.
Neurology, 2000
Decreased cerebrospinal fluid levels of beta-phenylethylamine in patients with Rett syndrome.
Satoi M et al.
Annals of Neurology, 2000