Associated Papers
Profibrotic Molecules Are Reduced in CRISPR-Edited Emery-Dreifuss Muscular Dystrophy Fibroblasts.
Cattin E et al.
Cells, 2025
EMD missense variant causes X-linked isolated dilated cardiomyopathy with myocardial emerin deficiency.
Bulmer L et al.
European Journal of Human Genetics : Ejhg, 2025
40065010 (PubMed )
Supplement: 41431_2025_1827_MOESM1_ESM.pdf
Z-flipon variants reveal the many roles of Z-DNA and Z-RNA in health and disease.
Umerenkov D et al.
Life Science Alliance, 2023
37164635 (PubMed )
Supplement: LSA-2023-01962_TableS6.xlsx › Predicted_OMIM
Genotype-Phenotype Correlations in Human Diseases Caused by Mutations of LINC Complex-Associated Genes: A Systematic Review and Meta-Summary.
Storey EC et al.
Cells, 2022
36552829 (PubMed )
Supplement: cells-11-04065-s001.zip › Storey___Fuller_Supplementary_Materials_S2_Data_extraction.xlsx › INM_proteins
Overlap phenotypes of the left ventricular noncompaction and hypertrophic cardiomyopathy with complex arrhythmias and heart failure induced by the novel truncated DSC2 mutation.
Lin Y et al.
Orphanet Journal of Rare Diseases, 2021
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
31840275 (PubMed )
Supplement: MUS-61-436-s001.docx
X-Linked Emery-Dreifuss Muscular Dystrophy: Study Of X-Chromosome Inactivation and Its Relation with Clinical Phenotypes in Female Carriers.
Viggiano E et al.
Genes, 2019
Tissue inhibitors of matrix metalloproteinases in serum are cardiac biomarkers in Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz IM et al.
Kardiologia Polska, 2015
Osteopontin--a fibrosis-related marker--in dilated cardiomyopathy in patients with Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz I et al.
Scandinavian Journal of Clinical and Laboratory Investigation, 2011
The LINC complex and human disease.
Meinke P et al.
Biochemical Society Transactions, 2011
Novel and recurrent EMD mutations in patients with Emery-Dreifuss muscular dystrophy, identify exon 2 as a mutation hot spot.
Brown CA et al.
Journal of Human Genetics, 2011
Expression of emerin and lamins in muscle of patients with different forms of Emery-Dreifuss muscular dystrophy.
Niebroj-Dobosz I et al.
Acta Myologica : Myopathies and Cardiomyopathies : Official Journal of the Mediterranean Society of Myology, 2003
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