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
An explainable model of host genetic interactions linked to COVID-19 severity.
Onoja A et al.
Communications Biology, 2022
36289370 (PubMed )
Supplement: 42003_2022_4073_MOESM4_ESM.xlsx › S1
4-Phenylbutyrate restores localization and membrane repair to human dysferlin mutations.
Tominaga K et al.
Iscience, 2022
35028538 (PubMed )
Supplement: mmc1.pdf
Prioritization of candidate genes for a South African family with Parkinson's disease using in-silico tools.
Sebate B et al.
Plos One, 2021
33770142 (PubMed )
Supplement: pone.0249324.s003.xlsx › _8773__III-7_
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
Evaluation of Hybridization Capture Versus Amplicon-Based Methods for Whole-Exome Sequencing.
Samorodnitsky E et al.
Human Mutation, 2015
26110913 (PubMed )
Supplement: HUMU-36-903-s001.zip › humu22825-sup-0007-Table_S10.xlsx › Sheet1
Next generation sequencing on patients with LGMD and nonspecific myopathies: Findings associated with ANO5 mutations.
Savarese M et al.
Neuromuscular Disorders : Nmd, 2015
25891276 (PubMed )
Supplement: mmc4.docx
Autosomal recessive limb-girdle muscular dystrophies in the Czech Republic.
Stehlíková K et al.
Bmc Neurology, 2014
DNA damage, somatic aneuploidy, and malignant sarcoma susceptibility in muscular dystrophies.
Schmidt WM et al.
Plos Genetics, 2011
New aspects on patients affected by dysferlin deficient muscular dystrophy.
Klinge L et al.
Journal of Neurology, Neurosurgery, and Psychiatry, 2010
AHNAK, a novel component of the dysferlin protein complex, redistributes to the cytoplasm with dysferlin during skeletal muscle regeneration.
Huang Y et al.
Faseb Journal : Official Publication of the Federation of American Societies for Experimental Biology, 2007
Protein studies in dysferlinopathy patients using llama-derived antibody fragments selected by phage display.
Huang Y et al.
European Journal of Human Genetics : Ejhg, 2005
Identification of a dysferlin gene mutation in a Korean case with Miyoshi myopathy.
Oh SH et al.
Yonsei Medical Journal, 2004
[Muscular dystrophies detected by immunophenotyping and genotype analysis (mRNA and DNA)].
Lukás Z et al.
Ceskoslovenska Patologie, 2001
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