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