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