Associated Papers
LMNA-related cardiomyopathy: From molecular pathology to cardiac gene therapy.
Wang Z et al.
Journal of Advanced Research, 2025
Medically Actionable Secondary Findings from Whole-Exome Sequencing (WES) Data in a Sample of 3972 Individuals.
Melo M et al.
International Journal of Molecular Sciences, 2025
Optimized simple culture protocol for inducing mature myotubes from MYOD1-overexpressed human iPS cells.
Wada E et al.
Scientific Reports, 2024
Recent insights in striated muscle laminopathies.
Leconte M et al.
Current Opinion in Neurology, 2024
Characteristics of nuclear architectural abnormalities of myotubes differentiated from LmnaH222P/H222P skeletal muscle cells.
Wada E et al.
In Vitro Cellular & Developmental Biology. Animal, 2024
Modulation of cytoskeleton in cardiomyopathy caused by mutations in LMNA gene.
Chatzifrangkeskou M et al.
American Journal of Physiology. Cell Physiology, 2023
3D human induced pluripotent stem cell-derived bioengineered skeletal muscles for tissue, disease and therapy modeling.
Pinton L et al.
Nature Protocols, 2023
Characterization of cardiac involvement in children with LMNA-related muscular dystrophy.
Cesar S et al.
Frontiers in Cell and Developmental Biology, 2023
LMNA-related muscular dystrophy: Identification of variants in alternative genes and personalized clinical translation.
Cesar S et al.
Frontiers in 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
Sudden cardiac death prevention in an Emery-Dreifuss muscular dystrophy patient.
Yamazawa H et al.
Pediatrics International : Official Journal of the Japan Pediatric Society, 2022
The non-muscle ADF/cofilin-1 controls sarcomeric actin filament integrity and force production in striated muscle laminopathies.
Vignier N et al.
Cell Reports, 2021
International retrospective natural history study of LMNA-related congenital muscular dystrophy.
Ben Yaou R et al.
Brain Communications, 2021
Clinical spectrum and genetic variations of LMNA-related muscular dystrophies in a large cohort of Chinese patients.
Fan Y et al.
Journal of Medical Genetics, 2021
Lamin-Related Congenital Muscular Dystrophy Alters Mechanical Signaling and Skeletal Muscle Growth.
Owens DJ et al.
International Journal of Molecular Sciences, 2020
Protein Kinase C Alpha Cellular Distribution, Activity, and Proximity with Lamin A/C in Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2020
Emery-Dreifuss muscular dystrophy.
Heller SA et al.
Muscle & Nerve, 2020
Lamin A/C Assembly Defects in LMNA-Congenital Muscular Dystrophy Is Responsible for the Increased Severity of the Disease Compared with Emery-Dreifuss Muscular Dystrophy.
Bertrand AT et al.
Cells, 2020
Lamin Mutations Cause Increased YAP Nuclear Entry in Muscle Stem Cells.
Owens DJ et al.
Cells, 2020
Impact of next-generation sequencing panels in the evaluation of limb-girdle muscular dystrophies.
Özyilmaz B et al.
Annals of Human Genetics, 2019
Cellular and Animal Models of Striated Muscle Laminopathies.
Nicolas HA et al.
Cells, 2019
Assessment of fibroblast nuclear morphology aids interpretation of LMNA variants.
van Tienen FHJ et al.
European Journal of Human Genetics : Ejhg, 2019
Muscle Magnetic Resonance Imaging in Patients with Various Clinical Subtypes of LMNA-Related Muscular Dystrophy.
Lin HT et al.
Chinese Medical Journal, 2018
Three-Dimensional Human iPSC-Derived Artificial Skeletal Muscles Model Muscular Dystrophies and Enable Multilineage Tissue Engineering.
Maffioletti SM et al.
Cell Reports, 2018
SMAD6 overexpression leads to accelerated myogenic differentiation of LMNA mutated cells.
Janin A et al.
Scientific Reports, 2018
Modeling Skeletal Muscle Laminopathies Using Human Induced Pluripotent Stem Cells Carrying Pathogenic LMNA Mutations.
Steele-Stallard HB et al.
Frontiers in Physiology, 2018
The Pathogenesis and Therapies of Striated Muscle Laminopathies.
Brull A et al.
Frontiers in Physiology, 2018
Lamins and nesprin-1 mediate inside-out mechanical coupling in muscle cell precursors through FHOD1.
Schwartz C et al.
Scientific Reports, 2017
FHL1B Interacts with Lamin A/C and Emerin at the Nuclear Lamina and is Misregulated in Emery-Dreifuss Muscular Dystrophy.
Ziat E et al.
Journal of Neuromuscular Diseases, 2016
Emery-Dreifuss muscular dystrophy: the most recognizable laminopathy.
Madej-Pilarczyk A et al.
Folia Neuropathologica, 2016
Phenotype-Genotype Analysis of Chinese Patients with Early-Onset LMNA-Related Muscular Dystrophy.
Tan D et al.
Plos One, 2015
Cellular microenvironments reveal defective mechanosensing responses and elevated YAP signaling in LMNA-mutated muscle precursors.
Bertrand AT et al.
Journal of Cell Science, 2014
Lamin A/C mutations in dilated cardiomyopathy.
Tesson F et al.
Cardiology Journal, 2014
A laminopathic mutation disrupting lamin filament assembly causes disease-like phenotypes in Caenorhabditis elegans.
Bank EM et al.
Molecular Biology of the Cell, 2011
Inflammatory changes in infantile-onset LMNA-associated myopathy.
Komaki H et al.
Neuromuscular Disorders : Nmd, 2011
Lamin A/C-mediated neuromuscular junction defects in Emery-Dreifuss muscular dystrophy.
Méjat A et al.
The Journal of Cell Biology, 2009
Laminopathies: multisystem dystrophy syndromes.
Jacob KN et al.
Molecular Genetics and Metabolism, 2006
Mutation analysis of the lamin A/C gene (LMNA) among patients with different cardiomuscular phenotypes.
Vytopil M et al.
Journal of Medical Genetics, 2003