Associated Papers
Next-generation sequencing for pediatric-onset neuromuscular disorders unresolved by conventional diagnostic methods.
Kulsirichawaroj P et al.
Pediatric Research, 2025
A novel compound heterozygous variant in LAMA2 gene in a family with merosin-deficient congenital muscular dystrophy.
Nejati P et al.
Bmc Medical Genomics, 2025
Regional patterns of genetic variants in expanded carrier screening: a next-generation sequencing pilot study in Fujian Province, China.
Guo D et al.
Frontiers in Genetics, 2025
Elective genomic screening: results of the implementation of a whole genome sequencing program at a medical check-up unit in Spain.
Palao B et al.
Frontiers in Genetics, 2025
Genetic profile of Brazilian patients with LAMA2-related dystrophies.
Camelo CG et al.
Clinical Genetics, 2024
Genome and RNA sequencing boost neuromuscular diagnoses to 62% from 34% with exome sequencing alone.
Marchant RG et al.
Annals of Clinical and Translational Neurology, 2024
A Multicenter Cross-Sectional Study of the Swiss Cohort of LAMA2-Related Muscular Dystrophy.
Enzmann C et al.
Journal of Neuromuscular Diseases, 2024
Unique genotype-phenotype correlations within LAMA2-related limb girdle muscular dystrophy in Chinese patients.
Huang X et al.
Frontiers in Neurology, 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
Whole-body muscle magnetic resonance imaging in patients with muscle symptoms: incidental findings and outcomes.
Claeys KG et al.
European Journal of Neurology, 2021
Cobblestone Malformation in LAMA2 Congenital Muscular Dystrophy (MDC1A).
Jayakody H et al.
Journal of Neuropathology and Experimental Neurology, 2020
Sequential targeted exome sequencing of 1001 patients affected by unexplained limb-girdle weakness.
Töpf A et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2020
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
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
Targeted massively parallel sequencing and histological assessment of skeletal muscles for the molecular diagnosis of inherited muscle disorders.
Nishikawa A et al.
Journal of Medical Genetics, 2017
[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