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