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

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