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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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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
122
Publications with fulltext
1
Research data
Open Access
48 %
Mots clés
Base de données FAIR
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
LMNA
Errance diagnostique
Rare neuromuscular diseases
Butyrylcholinesterase
Nuclear envelope
Skeletal muscle
Cardiology
Myogenesis
Cardiomyopathy
Lamins
GNE
Allele-specific silencing
Cardiac conduction system
Duchenne muscular dystrophy
Connective tissue
Emery-Dreifuss muscular dystrophy
Angiotensin-converting enzyme inhibitor
Adult SMA
Treatment delay
Myotubes
Biomarker
INPP5K
Dilated cardiomyopathy
Rare diseases
Treatment
Regeneration
Dynamin 2
COL6A1
Actionability
Gene therapy
Laminopathy
Allele-specific silencing therapy
COVID-19
AAV VECTOR
LMNA-related congenital muscular dystrophy
BiP
Congenital muscular dystrophy
C2C12
Allele‐specific silencing therapy
Cancer
Muscular dystrophy
Laminopathies
Muscle biopsy
Maladies rares
Muscle
Lamin A/C
Next generation sequencing
Angiotensin-converting enzyme inhibitors
LGMD
Myologie
AAV
Heart failure
Dystrophine
Joint laxity
POPDC1
Mutations
Clinical trial
Diagnosis
Neuromuscular diseases
RNA interference
Lamin A/C nuclei
LMNA gene
Calcium handling
Dystrophie musculaire
COL1A1
Autophagosome maturation
Acetyltransferase
A-type lamin
Muscular dystrophy MD
Mouse
Myopathy
Heart
Patient registry
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Cancer biomarkers
Centronuclear myopathy
Emerin
BVES
Muscle MRI
Myopathies
Ehlers‐Danlos Syndrome
Therapy
Lamin A/C LMNA gene
C elegans
CMTX
Actionable gene
Exome
IPSC
Hypermobile EDS
A-type lamins
Maladies rares et orphelines
Titin
Alternative splicing
CRISPR
Laminopathie
Becker muscular dystrophy
Biological sciences
CSF protein