index - Génétique et physiopathologie des MNM liées à la matrice extracellulaire et du noyau

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Muscle LMNA Cancer biomarkers CMTX Dynamin 2 Gene therapy Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS Neuromuscular diseases Skeletal muscle IPSC CSF protein Ehlers‐Danlos Syndrome A-type lamins Patient registry CRISPR Calcium handling C2C12 Laminopathy Treatment Errance diagnostique C elegans Centronuclear myopathy Myopathies Lamin A/C LMNA gene Cancer Titin Angiotensin-converting enzyme inhibitor BiP RNA interference Dystrophie musculaire Cardiac conduction system Muscular dystrophy MD AAV VECTOR Maladies rares et orphelines Becker muscular dystrophy Emerin Angiotensin-converting enzyme inhibitors Muscle MRI Myologie AAV Diagnosis LMNA-related congenital muscular dystrophy Joint laxity Mutations Clinical trial Rare neuromuscular diseases Connective tissue Treatment delay COL6A1 GNE Rare diseases Congenital muscular dystrophy Allele‐specific silencing therapy Cardiology Hypermobile EDS Duchenne muscular dystrophy Emery-Dreifuss muscular dystrophy Maladies rares Muscle biopsy Laminopathies POPDC1 Actionability LGMD BVES A-type lamin Actionable gene Heart failure Dilated cardiomyopathy Allele-specific silencing Alternative splicing Acetyltransferase INPP5K Cardiomyopathy Lamins Autophagosome maturation Biomarker Exome Lamin A/C Butyrylcholinesterase LMNA gene Myogenesis COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders Myotubes Muscular dystrophy Adult SMA COVID-19 Nuclear envelope Heart COL1A1 Therapy Lamin A/C nuclei Base de données FAIR Allele-specific silencing therapy Regeneration Biological sciences Mouse Laminopathie Next generation sequencing Myopathy Dystrophine