Associated Papers
Genomic stop codon scanning reveals quantitative principles of nonsense-mediated mRNA decay.
Cortázar MA et al.
Biorxiv : the Preprint Server for Biology, 2025
Muscular dystrophy-associated lamin variants disrupt cellular organization through a nucleolar-ribosomal axis controlling cytoplasmic macromolecular crowding.
Ding X et al.
Biorxiv : the Preprint Server for Biology, 2025
Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA.
Gregory EF et al.
Plos Genetics, 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
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Importance of early diagnosis in LMNA-related muscular dystrophy for cardiac surveillance.
Choi SA et al.
Muscle & Nerve, 2019
Single molecule analysis of lamin dynamics.
Serebryannyy LA et al.
Methods (san Diego, Calif.), 2019
Laminopathies; Mutations on single gene and various human genetic diseases.
Kang SM et al.
Bmb Reports, 2018
Hutchinson-Gilford Progeria Syndrome: A Premature Aging Disease.
Ahmed MS et al.
Molecular Neurobiology, 2018
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
Clinical applications of next-generation sequencing-based gene panel in patients with muscular dystrophy: Korean experience.
Seong MW et al.
Clinical Genetics, 2016
Permanent farnesylation of lamin A mutants linked to progeria impairs its phosphorylation at serine 22 during interphase.
Moiseeva O et al.
Aging, 2016
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Utility of next generation sequencing in genetic diagnosis of early onset neuromuscular disorders.
Chae JH et al.
Journal of Medical Genetics, 2015
Blood glutathione decrease in subjects carrying lamin A/C gene mutations is an early marker of cardiac involvement.
Meune C et al.
Neuromuscular Disorders : Nmd, 2012
Nuclear lamins: key regulators of nuclear structure and activities.
Prokocimer M et al.
Journal of Cellular and Molecular Medicine, 2009
De novo LMNA mutations cause a new form of congenital muscular dystrophy.
Quijano-Roy S et al.
Annals of Neurology, 2008
Nuclear envelope defects in muscular dystrophy.
Roux KJ et al.
Biochimica Et Biophysica Acta, 2007
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Gene symbol: CMD1A. Disease: Dilated cardiomyopathy associated with conduction system disease.
Arbustini EA et al.
Human Genetics, 2005
Gene symbol: LMNA. Disease: Cardiomyopathy, dilated, with conduction defect 1.
Arbustini Eloisa AE et al.
Human Genetics, 2005
A new mutation of the lamin A/C gene leading to autosomal dominant axonal neuropathy, muscular dystrophy, cardiac disease, and leuconychia.
Goizet C et al.
Journal of Medical Genetics, 2004
108th ENMC International Workshop, 3rd Workshop of the MYO-CLUSTER project: EUROMEN, 7th International Emery-Dreifuss Muscular Dystrophy (EDMD) Workshop, 13-15 September 2002, Naarden, The Netherlands.
Bonne G et al.
Neuromuscular Disorders : Nmd, 2003
Natural history of dilated cardiomyopathy due to lamin A/C gene mutations.
Taylor MR et al.
Journal of the American College of Cardiology, 2003
[Hauptmann-Thannhauser muscular dystrophy and differential diagnosis of myopathies associated with contractures].
Hanisch F et al.
Der Nervenarzt, 2002
Life at the edge: the nuclear envelope and human disease.
Burke B et al.
Nature Reviews. Molecular Cell Biology, 2002
The Ig-like structure of the C-terminal domain of lamin A/C, mutated in muscular dystrophies, cardiomyopathy, and partial lipodystrophy.
Krimm I et al.
Structure (london, England : 1993), 2002
Autosomal dominant dilated cardiomyopathy with atrioventricular block: a lamin A/C defect-related disease.
Arbustini E et al.
Journal of the American College of Cardiology, 2002
Emery-Dreifuss muscular dystrophy.
Helbling-Leclerc A et al.
European Journal of Human Genetics : Ejhg, 2002
Novel and recurrent mutations in lamin A/C in patients with Emery-Dreifuss muscular dystrophy.
Brown CA et al.
American Journal of Medical Genetics, 2001
Mutations in the LMNA gene encoding lamin A/C.
Genschel J et al.
Human Mutation, 2000
Lamin mutation location predicts cardiac phenotype severity: combined analysis of the published literature.
Captur G et al.
Open Heart, 0