Associated Papers
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.
Mathur P et al.
Global Medical Genetics, 2025
Global carrier frequency and predicted genetic prevalence of patients with pathogenic sequence variants in autosomal recessive genetic neuromuscular diseases.
Choi WJ et al.
Scientific Reports, 2024
38361118 (PubMed )
Supplement: 41598_2024_54413_MOESM1_ESM.xlsx › Table_S3
Genotype-phenotype correlation and natural history study of dysferlinopathy: a single-centre experience from India.
Nashi S et al.
Neurogenetics, 2023
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga K et al.
Iscience, 2022
35028538 (PubMed )
Supplement: mmc1.pdf
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Khadilkar SV et al.
Journal of Neuromuscular Diseases, 2022
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
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