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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
129
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Calcium handling
Lamins
Alternative splicing
Regeneration
COL1A1
COVID-19
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Dilated cardiomyopathy
Allele‐specific silencing therapy
Butyrylcholinesterase
Maladies rares et orphelines
Muscular dystrophy
Actionable gene
COL6A1
Biological sciences
Mutations
Emery-Dreifuss muscular dystrophy
Dystrophine
LMNA gene
Cancer biomarkers
Myologie
Laminopathies
Adult SMA
INPP5K
Allele-specific silencing therapy
Rare diseases
Congenital muscular dystrophy
Skeletal muscle
Maladies rares
Gene therapy
Cardiomyopathy
IPSC
Lamin A/C LMNA gene
Emerin
C elegans
Myopathies
Allele-specific silencing
Biomarker
POPDC1
Treatment delay
Myopathy
Duchenne muscular dystrophy
Becker muscular dystrophy
Angiotensin-converting enzyme inhibitor
A-type lamins
Heart
LMNA-related congenital muscular dystrophy
Rare neuromuscular diseases
BVES
Laminopathy
Treatment
Connective tissue
BiP
CSF protein
Base de données FAIR
Hypermobile EDS
CMTX
CAV3
Dynamin 2
Titin
Muscular dystrophy MD
Myogenesis
LGMD
RNA interference
Laminopathie
Muscle biopsy
Muscle MRI
C2C12
Patient registry
AAV VECTOR
CRISPR
Next generation sequencing
AAV
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Actionability
Joint laxity
Myotubes
Heart failure
Neuromuscular diseases
Autophagosome maturation
Exome
Mouse
Clinical trial
Lamin A/C nuclei
Errance diagnostique
Lamin A/C
Angiotensin-converting enzyme inhibitors
Nuclear envelope
Dystrophie musculaire
Centronuclear myopathy
LMNA
Acetyltransferase
Gene
Muscle
Therapy
Diagnosis
Ehlers‐Danlos Syndrome
GNE
A-type lamin
Cancer