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

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