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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
126
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Therapy
Muscle biopsy
Lamins
Calcium handling
Treatment delay
Angiotensin-converting enzyme inhibitors
CRISPR
Allele-specific silencing therapy
Errance diagnostique
AAV VECTOR
Emerin
Mutations
A-type lamin
COVID-19
Treatment
Diagnosis
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Myopathies
Becker muscular dystrophy
Muscle
Congenital muscular dystrophy
Alternative splicing
Cardiomyopathy
Heart
C2C12
Allele‐specific silencing therapy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Angiotensin-converting enzyme inhibitor
Skeletal muscle
Lamin A/C
CMTX
Rare neuromuscular diseases
Cancer
Muscle MRI
Biological sciences
POPDC1
Ehlers‐Danlos Syndrome
Muscular dystrophy
AAV
Patient registry
GNE
Actionable gene
Regeneration
Base de données FAIR
Joint laxity
Cancer biomarkers
Hypermobile EDS
Heart failure
Myotubes
Gene therapy
Lamin A/C nuclei
Nuclear envelope
Dystrophine
BVES
INPP5K
COL6A1
Neuromuscular diseases
Muscular dystrophy MD
Adult SMA
Lamin A/C LMNA gene
COL1A1
Myogenesis
RNA interference
Titin
CSF protein
Duchenne muscular dystrophy
IPSC
A-type lamins
Dilated cardiomyopathy
Dynamin 2
Cardiology
Connective tissue
Maladies rares
Laminopathies
LMNA gene
LGMD
LMNA
Next generation sequencing
Biomarker
Myopathy
Butyrylcholinesterase
Actionability
Maladies rares et orphelines
Dystrophie musculaire
Allele-specific silencing
Autophagosome maturation
Laminopathie
Exome
BiP
Mouse
Rare diseases
Cardiac conduction system
Centronuclear myopathy
C elegans
Acetyltransferase
Emery-Dreifuss muscular dystrophy
Myologie
Laminopathy
LMNA-related congenital muscular dystrophy
Clinical trial