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