Associated Papers
Oligomer-dependent and -independent pathogenesis of muscular dystrophy-associated mutations within the penta-EF-hand domain of calpain-3.
Hisatsune C et al.
The Journal of Biological Chemistry, 2026
Limb-Girdle Muscular Dystrophies (LGMD): Clinical features, diagnosis and genetic variability through next generation sequencing.
Mathur P et al.
Global Medical Genetics, 2025
Burden of rare genetic disorders in India: twenty-two years' experience of a tertiary centre.
Sheth J et al.
Orphanet Journal of Rare Diseases, 2024
Focused Exome Sequencing Gives a High Diagnostic Yield in the Indian Subcontinent.
Duraisamy AJ et al.
The Journal of Molecular Diagnostics : Jmd, 2024
Identification of novel pathogenic variants of Calpain-3 gene in limb girdle muscular dystrophy R1.
Banerjee S et al.
Orphanet Journal of Rare Diseases, 2024
Comprehensive evaluation of AlphaMissense predictions by evidence quantification for variants of uncertain significance.
Kurtovic-Kozaric A et al.
Frontiers in Genetics, 2024
Disease Progression and Mutation Pattern in a Large Cohort of LGMD R1/LGMD 2A Patients from India.
Ganaraja VH et al.
Global Medical Genetics, 2022
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Khadilkar SV et al.
Journal of Neuromuscular Diseases, 2022
A data set of variants derived from 1455 clinical and research exomes is efficient in variant prioritization for early-onset monogenic disorders in Indians.
Kausthubham N et al.
Human Mutation, 2021
Review: Understanding Rare Genetic Diseases in Low Resource Regions Like Jammu and Kashmir - India.
Angural A et al.
Frontiers in Genetics, 2020
Clinical and Genomic Evaluation of 207 Genetic Myopathies in the Indian Subcontinent.
Chakravorty S et al.
Frontiers in Neurology, 2020
Protein and genetic diagnosis of limb girdle muscular dystrophy type 2A: The yield and the pitfalls.
Fanin M et al.
Muscle & Nerve, 2015
Clinical applications and implications of common and founder mutations in Indian subpopulations.
Ankala A et al.
Human Mutation, 2015
Redox state and mitochondrial respiratory chain function in skeletal muscle of LGMD2A patients.
Nilsson MI et al.
Plos One, 2014
Ancestral founder mutations in calpain-3 in the Indian Agarwal community: historical, clinical, and molecular perspective.
Ankala A et al.
Muscle & Nerve, 2013
Eosinophilic infiltration related to CAPN3 mutations: a pathophysiological component of primary calpainopathy?
Krahn M et al.
Clinical Genetics, 2011
Limb-girdle muscular dystrophy type 2A resulting from homozygous G2338C transversion mutation in the calpain-3 gene.
Peddareddygari LR et al.
Journal of Clinical Neuromuscular Disease, 2010
Novel mutations in the calpain 3 gene in Germany.
Todorova A et al.
Clinical Genetics, 2005
Limb-girdle muscular dystrophy in the Agarwals: Utility of founder mutations in CAPN3 gene.
Khadilkar SV et al.
Annals of Indian Academy of Neurology, 0
Limb-girdle Muscular Dystrophies in India: A Review.
Khadilkar SV et al.
Annals of Indian Academy of Neurology, 0