Associated Papers
Genetic spectrum among 2009 Iranian individuals with neuromuscular disorders using next generation sequencing and multiple ligation dependent probe amplification methods.
Molaei N et al.
Scientific Reports, 2025
41315541 (PubMed )
Supplement: 41598_2025_26836_MOESM1_ESM.xlsx › Table_1
Clinical application of next generation sequencing for Mendelian disease diagnosis in the Iranian population.
Abolhassani A et al.
Npj Genomic Medicine, 2024
38374194 (PubMed )
Supplement: 41525_2024_393_MOESM3_ESM.xlsx › Supplementary_Table_8
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
Utilization of Targeted RNA-Seq for the Resolution of Variant Pathogenicity and Enhancement of Diagnostic Yield in Dysferlinopathy.
Rufibach L et al.
Journal of Personalized Medicine, 2023
36983702 (PubMed )
Supplement: jpm-13-00520-s001.zip › Supplementary_tables_S1-S4.xlsx › Table_S2_-_RNA-Seq_data
Genetic Appraisal of Hereditary Muscle Disorders In A Cohort From Mumbai, India.
Khadilkar SV et al.
Journal of Neuromuscular Diseases, 2022
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G et al.
European Journal of Neurology, 2021
Serum exosomes can restore cellular function in vitro and be used for diagnosis in dysferlinopathy.
Dong X et al.
Theranostics, 2018
Dysferlinopathy: mitochondrial abnormalities in human skeletal muscle.
Liu F et al.
The International Journal of Neuroscience, 2016
DYSF mutation analysis in a group of Chinese patients with dysferlinopathy.
Zhao Z et al.
Clinical Neurology and Neurosurgery, 2013
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
Early detection of cardiac involvement in Miyoshi myopathy: 2D strain echocardiography and late gadolinium enhancement cardiovascular magnetic resonance.
Choi ER et al.
Journal of Cardiovascular Magnetic Resonance : Official Journal of the Society for Cardiovascular Magnetic Resonance, 2010
Rapid screening for Japanese dysferlinopathy by fluorescent primer extension.
Hayashi S et al.
Internal Medicine (tokyo, Japan), 2010
Clinical heterogeneity and a high proportion of novel mutations in a Chinese cohort of patients with dysferlinopathy.
Xi J et al.
Neurology India, 0
Select a paper to view details