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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
121
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
AAV VECTOR
C2C12
Errance diagnostique
Butyrylcholinesterase
Patient registry
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Muscle
Neuromuscular diseases
Becker muscular dystrophy
Actionability
Duchenne muscular dystrophy
COVID-19
Diagnosis
Nuclear envelope
CMTX
Myologie
Next generation sequencing
LMNA
POPDC1
Treatment delay
LMNA-related congenital muscular dystrophy
A-type lamins
Base de données FAIR
Congenital muscular dystrophy
Cardiomyopathy
INPP5K
C elegans
GNE
Muscular dystrophy
Biomarker
Dystrophie musculaire
Cancer biomarkers
COL6A1
Maladies rares et orphelines
LMNA gene
Exome
Dilated cardiomyopathy
Cancer
CRISPR
Gene therapy
Lamins
Muscle biopsy
Rare diseases
COL1A1
Myopathies
BiP
Muscle MRI
Cardiac conduction system
Laminopathy
Treatment
Rare neuromuscular diseases
Therapy
Emerin
Biological sciences
Heart
Maladies rares
BVES
Calcium handling
Dystrophine
Dynamin 2
Hypermobile EDS
Myopathy
Alternative splicing
Lamin A/C
Allele-specific silencing therapy
Myotubes
RNA interference
Mutations
Heart failure
Adult SMA
Joint laxity
Allele‐specific silencing therapy
Emery-Dreifuss muscular dystrophy
Autophagosome maturation
Ehlers‐Danlos Syndrome
Clinical trial
LGMD
Lamin A/C LMNA gene
Myogenesis
Laminopathie
AAV
Angiotensin-converting enzyme inhibitors
Centronuclear myopathy
Titin
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Actionable gene
Muscular dystrophy MD
Angiotensin-converting enzyme inhibitor
Connective tissue
Acetyltransferase
CSF protein
A-type lamin
IPSC
Allele-specific silencing
Lamin A/C nuclei
Laminopathies
Regeneration
Mouse
Cardiology
Skeletal muscle