Associated Papers
Oxford Nanopore Technologies [ONT] Sequencing: Clinical Validation in Genetically Heterogeneous Disorders.
Urtis M et al.
Genes, 2025
Clinical and Genetic Heterogeneity of Nuclear Envelopathy Related Muscular Dystrophies in an Indian Cohort.
Baskar D et al.
Journal of Neuromuscular Diseases, 2024
An alpha-helix variant p.Arg156Pro in LMNA as a cause of hereditary dilated cardiomyopathy: genetics and bioinfomatics exploration.
Chang L et al.
Bmc Medical Genomics, 2023
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
Most myopathic lamin variants aggregate: a functional genomics approach for assessing variants of uncertain significance.
Anderson CL et al.
Npj Genomic Medicine, 2021
Recent insight into intermediate filament structure.
Eldirany SA et al.
Current Opinion in Cell Biology, 2021
Cardiac and Neuromuscular Features of Patients With LMNA-Related Cardiomyopathy.
Peretto G et al.
Annals of Internal Medicine, 2019
Assessing the Pathogenicity, Penetrance, and Expressivity of Putative Disease-Causing Variants in a Population Setting.
Wright CF et al.
American Journal of Human Genetics, 2019
Nuclear Lamins: Thin Filaments with Major Functions.
de Leeuw R et al.
Trends in Cell Biology, 2018
Lamin A/C-Related Cardiac Disease: Late Onset With a Variable and Mild Phenotype in a Large Cohort of Patients With the Lamin A/C p.(Arg331Gln) Founder Mutation.
Hoorntje ET et al.
Circulation. Cardiovascular Genetics, 2017
LMNA Sequences of 60,706 Unrelated Individuals Reveal 132 Novel Missense Variants in A-Type Lamins and Suggest a Link between Variant p.G602S and Type 2 Diabetes.
Florwick A et al.
Frontiers in Genetics, 2017
Familial accumulation of sudden cardiac deaths and the LMNA variant c.868G>A (p.Glu290Lys).
Finsterer J et al.
International Journal of Cardiology, 2016
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
Phosphorylation of connexin43 on S279/282 may contribute to laminopathy-associated conduction defects.
Chen SC et al.
Experimental Cell Research, 2013
Disease-associated mutations in the coil 2B domain of human lamin A/C affect structural properties that mediate dimerization and intermediate filament formation.
Gangemi F et al.
Journal of Structural Biology, 2013
Protein profiling reveals energy metabolism and cytoskeletal protein alterations in LMNA mutation carriers.
Magagnotti C et al.
Biochimica Et Biophysica Acta, 2012
Structures of the lamin A/C R335W and E347K mutants: implications for dilated cardiolaminopathies.
Bollati M et al.
Biochemical and Biophysical Research Communications, 2012
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S et al.
Neurology, 2007
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M et al.
Journal of Medical Genetics, 2003
Frequent low penetrance mutations in the Lamin A/C gene, causing Emery Dreifuss muscular dystrophy.
Vytopil M et al.
Neuromuscular Disorders : Nmd, 2002
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0