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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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Lorenzo Maggi, Susana Quijano-Roy, Carsten Bönnemann, Gisèle Bonne. 253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands. Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩. ⟨hal-04086238⟩
Chiffres clés
127
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
CAV3
LMNA-related congenital muscular dystrophy
COL1A1
RNA interference
Cancer biomarkers
Treatment delay
Myogenesis
Nuclear envelope
A-type lamins
Laminopathie
IPSC
GNE
LMNA
Dystrophine
CMTX
Laminopathies
Biological sciences
Dilated cardiomyopathy
C2C12
Dystrophie musculaire
Myopathy
Duchenne muscular dystrophy
Titin
Gene therapy
Exome
Maladies rares
Muscular dystrophy
LGMD
Hypermobile EDS
Regeneration
Cardiac conduction system
Actionable gene
Patient registry
A-type lamin
Ehlers‐Danlos Syndrome
INPP5K
Muscle biopsy
Muscle MRI
Therapy
Angiotensin-converting enzyme inhibitor
Joint laxity
Diagnosis
Muscular dystrophy MD
Treatment
POPDC1
COVID-19
Lamin A/C nuclei
LMNA gene
Myopathies
Angiotensin-converting enzyme inhibitors
CSF protein
Cancer
Next generation sequencing
Emerin
Muscle
Clinical trial
Acetyltransferase
Alternative splicing
Actionability
Myologie
AAV VECTOR
Adult SMA
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Laminopathy
Allele-specific silencing
Allele‐specific silencing therapy
Lamin A/C LMNA gene
Skeletal muscle
Rare diseases
Becker muscular dystrophy
Heart failure
Myotubes
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Mouse
Neuromuscular diseases
Connective tissue
Heart
Congenital muscular dystrophy
C elegans
Lamin A/C
BiP
Biomarker
Base de données FAIR
CRISPR
AAV
Allele-specific silencing therapy
Centronuclear myopathy
Calcium handling
COL6A1
BVES
Errance diagnostique
Emery-Dreifuss muscular dystrophy
Rare neuromuscular diseases
Cardiomyopathy
Maladies rares et orphelines
Dynamin 2
Lamins
Butyrylcholinesterase
Mutations
Autophagosome maturation