Associated Papers
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_S4_-_reclassification
Transcriptome analysis of skeletal muscle in dermatomyositis, polymyositis, and dysferlinopathy, using a bioinformatics approach.
Jeong HN et al.
Frontiers in Neurology, 2023
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga K et al.
Iscience, 2022
35028538 (PubMed )
Supplement: mmc1.pdf
Deep phenotyping of an international series of patients with late-onset dysferlinopathy.
Fernández-Eulate G et al.
European Journal of Neurology, 2021
Characterization of isolated amyloid myopathy.
Liewluck T et al.
European Journal of Neurology, 2017
Dysferlin mutations and mitochondrial dysfunction.
Vincent AE et al.
Neuromuscular Disorders : Nmd, 2016
Robust genotyping tool for autosomal recessive type of limb-girdle muscular dystrophies.
Inashkina I et al.
Bmc Musculoskeletal Disorders, 2016
27142102 (PubMed )
Supplement: 12891_2016_1058_MOESM1_ESM.docx
ISPD mutations account for a small proportion of Italian Limb Girdle Muscular Dystrophy cases.
Magri F et al.
Bmc Neurology, 2015
26404900 (PubMed )
Supplement: 12883_2015_428_MOESM1_ESM.pdf
Risk factors for osteoporosis, falls and fractures in hereditary myopathies and sporadic inclusion body myositis - A cross sectional survey.
Danckworth F et al.
Molecular Genetics and Metabolism Reports, 2014
Eosinophils in hereditary and inflammatory myopathies.
Schröder T et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2013
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M et al.
Neuromuscular Disorders : Nmd, 0
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