Loading...
Dernières publications
-
-
-
-
Antonio Atalaia, Dagmar Wandrei, Nawel Lalout, Rachel Thompson, Adrian Tassoni, et al.. EURO-NMD registry: federated FAIR infrastructure, innovative technologies and concepts of a patient-centred registry for rare neuromuscular disorders. Orphanet Journal of Rare Diseases, 2024, 19 (1), pp.66. ⟨10.1186/s13023-024-03059-3⟩. ⟨hal-04460667⟩
-
-
Hubert Smeets, Bram Verbrugge, Xavier Bulbena, Liliya Hristova, Julia Vogt, et al.. European Joint Programme on Rare Diseases workshop: LAMA2-muscular dystrophy: paving the road to therapy March 17–19, 2023, Barcelona, Spain. LAMA2-muscular dystrophy: paving the road to therapy, Neuromuscular Disorders, 36, pp.16 - 22, 2024, ⟨10.1016/j.nmd.2024.01.001⟩. ⟨hal-04546346⟩
-
-
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⟩
-
Luce Barbat Du Closel, Nathalie Bonello-Palot, Yann Pereon, Andoni Echaniz-Laguna, Jean Philippe Camdessanche, et al.. Clinical and electrophysiological characteristics of women with X-linked Charcot-Marie-Tooth disease. European Journal of Neurology, 2023, 30 (10), pp.3265-3276. ⟨10.1111/ene.15937⟩. ⟨hal-04254200⟩
-
Chiffres clés
129
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
LMNA gene
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Lamin A/C LMNA gene
CMTX
A-type lamins
Myogenesis
Emerin
Acetyltransferase
Angiotensin-converting enzyme inhibitors
Alternative splicing
Next generation sequencing
LGMD
Duchenne muscular dystrophy
Biological sciences
Clinical trial
Muscle
POPDC1
Rare neuromuscular diseases
Mouse
Rare diseases
Butyrylcholinesterase
C2C12
Neuromuscular diseases
Adult SMA
Mutations
Exome
Skeletal muscle
LMNA
Allele-specific silencing
Lamin A/C nuclei
Becker muscular dystrophy
Treatment delay
Cardiomyopathy
Dynamin 2
Hypermobile EDS
Myopathies
Autophagosome maturation
Myologie
Nuclear envelope
Gene
Dilated cardiomyopathy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
INPP5K
Muscular dystrophy MD
Dystrophine
Allele‐specific silencing therapy
Angiotensin-converting enzyme inhibitor
COVID-19
Lamin A/C
Regeneration
AAV
Myopathy
AAV VECTOR
Centronuclear myopathy
BVES
CAV3
Gene therapy
Titin
LMNA-related congenital muscular dystrophy
Laminopathie
Laminopathies
IPSC
Actionability
Errance diagnostique
Biomarker
Calcium handling
Dystrophie musculaire
GNE
RNA interference
Cancer biomarkers
Muscle MRI
Ehlers‐Danlos Syndrome
Maladies rares
Muscle biopsy
COL6A1
Diagnosis
Laminopathy
CSF protein
A-type lamin
Actionable gene
Patient registry
BiP
Cancer
Base de données FAIR
Connective tissue
Congenital muscular dystrophy
Maladies rares et orphelines
Lamins
Joint laxity
Heart
Myotubes
Treatment
COL1A1
C elegans
Muscular dystrophy
Therapy
Heart failure
CRISPR
Emery-Dreifuss muscular dystrophy
Allele-specific silencing therapy