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