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

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