Associated Papers
Limb-Girdle Muscular Dystrophy Type 2B and Morbihan Disease: A Case Report With an Atypical Presentation.
Briceño Moya F et al.
Cureus, 2025
The Dysferlinopathies Conundrum: Clinical Spectra, Disease Mechanism and Genetic Approaches for Treatments.
Anwar S et al.
Biomolecules, 2024
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
Genetic Profile of Patients with Limb-Girdle Muscle Weakness in the Chilean Population.
Cerino M et al.
Genes, 2022
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Khadilkar SV et al.
Journal of Neuromuscular Diseases, 2022
Serum Cytokine Profile in a Patient Diagnosed with Dysferlinopathy.
Khaiboullina SF et al.
Case Reports in Medicine, 2017
The Clinical Outcome Study for dysferlinopathy: An international multicenter study.
Harris E et al.
Neurology. Genetics, 2016
Expanding preconception carrier screening for the Jewish population using high throughput microfluidics technology and next generation sequencing.
Gal M et al.
Bmc Medical Genomics, 2016
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
Toward an objective measure of functional disability in dysferlinopathy.
Woudt L et al.
Muscle & Nerve, 2016
Eosinophils in hereditary and inflammatory myopathies.
Schröder T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Muscular dystrophy with marked Dysferlin deficiency is consistently caused by primary dysferlin gene mutations.
Cacciottolo M et al.
European Journal of Human Genetics : Ejhg, 2011
Comparison of dysferlin expression in human skeletal muscle with that in monocytes for the diagnosis of dysferlin myopathy.
Gallardo E et al.
Plos One, 2011
Dysferlin deficiency enhances monocyte phagocytosis: a model for the inflammatory onset of limb-girdle muscular dystrophy 2B.
Nagaraju K et al.
The American Journal of Pathology, 2008
Dysferlinopathy in the Jews of the Caucasus: a frequent mutation in the dysferlin gene.
Leshinsky-Silver E et al.
Neuromuscular Disorders : Nmd, 2007
Whole Exome Sequencing Reveals DYSF, FKTN, and ISPD Mutations in Congenital Muscular Dystrophy Without Brain or Eye Involvement.
Ceyhan-Birsoy O et al.
Journal of Neuromuscular Diseases, 0
Limb-girdle Muscular Dystrophies in India: A Review.
Khadilkar SV et al.
Annals of Indian Academy of Neurology, 0