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