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Dernières publications
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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⟩
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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⟩
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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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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⟩
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Chiffres clés
128
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Muscular dystrophy
Autophagosome maturation
Rare diseases
Allele-specific silencing therapy
AAV VECTOR
LGMD
Actionability
Rare neuromuscular diseases
CSF protein
Biomarker
Myologie
Heart failure
Joint laxity
Lamin A/C
Heart
Angiotensin-converting enzyme inhibitors
Lamins
Dilated cardiomyopathy
Becker muscular dystrophy
Lamin A/C LMNA gene
CAV3
COL6A1
Next generation sequencing
Calcium handling
Titin
GNE
LMNA-related congenital muscular dystrophy
BiP
Cancer biomarkers
Base de données FAIR
Muscular dystrophy MD
Hypermobile EDS
Acetyltransferase
Patient registry
Myopathy
Therapy
Myotubes
CRISPR
Muscle
Lamin A/C nuclei
Cancer
Biological sciences
Dystrophie musculaire
Maladies rares
COVID-19
Diagnosis
Muscle biopsy
Ehlers‐Danlos Syndrome
Allele-specific silencing
Mouse
Alternative splicing
Dynamin 2
Nuclear envelope
Myopathies
AAV
Actionable gene
Exome
C2C12
Duchenne muscular dystrophy
Errance diagnostique
Treatment
A-type lamins
Maladies rares et orphelines
C elegans
Mutations
Clinical trial
Dystrophine
Myogenesis
IPSC
Skeletal muscle
RNA interference
Laminopathy
Gene therapy
Allele‐specific silencing therapy
POPDC1
Connective tissue
Emerin
Adult SMA
LMNA gene
Butyrylcholinesterase
BVES
INPP5K
Laminopathie
CMTX
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
COL1A1
Regeneration
Cardiomyopathy
Muscle MRI
A-type lamin
LMNA
Emery-Dreifuss muscular dystrophy
Centronuclear myopathy
Angiotensin-converting enzyme inhibitor
Congenital muscular dystrophy
Gene
Treatment delay
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Neuromuscular diseases
Laminopathies