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Dernières publications
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Édouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), p.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04190879⟩
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Caroline Le Dour, Maria Chatzifrangkeskou, Coline Macquart, Maria M Magiera, Cécile Peccate, et al.. Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations. Nature Communications, 2022, 13 (1), pp.7886. ⟨10.1038/s41467-022-35639-x⟩. ⟨hal-03921784⟩
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Clémence Labasse, Guy Brochier, Ana-Lia Taratuto, Bruno Cadot, John Rendu, et al.. Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies. Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩. ⟨hal-03820052⟩
Chiffres clés
84
Publications avec texte intégral
Open Access
55 %
Mots clés
Dominant centronuclear myopathy
Neural crest cells
Caveolins
Allele-specific silencing
ACTN2
Cytoskeleton
Myopathy
Cell migration
Myopathie
Developmental biology
RNA interference
Cross-bridge kinetics
Satellite cell
Adeno-associated virus vector
Autophagy
Biophysics
Skeletal muscle
Clathrine
Autophagosome
Duchenne Muscular Dystrophy
Adeno-Associated virus
Biomarkers
Skin
Autophagosome maturation
Cavins
Allele-specific silencing therapy
CAV-3 gene
Cellular neuroscience
Adeno-associated virus
A-type lamins
Cell proliferation
Actin nucleus
AFM
Nesprin
Dullard
Disease heterogeneity
BAR proteins
Cellules de crête neurale
Mechanotransduction
Autosomal dominant centronuclear myopathy
AAV8
Antisense oligonucleotides
Nuclear envelope
Nucleus
Amphiphysin
Domaine LEM
Congenital myopathy
DNM2
Adult patients
Autophagy cellular
Lamin
Dynamine
Muscular dystrophy
Gene therapy
Allele‐specific silencing therapy
Cardiomyopathies
Duchenne muscular dystrophy
Dynamin 2
Duchenne muscular dystrophy DMD
Cell signaling
CAV3
Disease modifiers
Coeur
Migration
Core myopathy
Ctdnep1
Developmental myosin heavy chain
Cardiotoxin
AAV
CTL
Cytosquelette
Myosin
Clathrin
Endocytosis
Atrial heart defects
BAF
Allele specific RNA interference
Charcot-Marie-Tooth
Cancer
BMP signaling
Caveolin-3
Outflow tract
Correlative microscopy
Adhesion
Cavéoles
Centronuclear myopathy
AD-CNM
DMyHC
Cross-presentation
Caveolin
Becker muscular dystrophy BMD
Actin
Animal models of human disease
Dynamin
Diaphragm
Caveolae
Atrial cardiac defects
Muscle
Dynamin overexpression
Alpha-actinin-2