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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
125
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Myotubes
Muscle MRI
Cardiology
Emery-Dreifuss muscular dystrophy
Allele-specific silencing therapy
Joint laxity
Ehlers‐Danlos Syndrome
Titin
Neuromuscular diseases
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Rare neuromuscular diseases
Centronuclear myopathy
Next generation sequencing
Exome
LMNA gene
LMNA
Dynamin 2
Laminopathies
Rare diseases
Laminopathie
Therapy
Diagnosis
Actionability
BiP
Myopathies
Cardiomyopathy
Autophagosome maturation
Dystrophine
Maladies rares
Cardiac conduction system
CRISPR
A-type lamins
Skeletal muscle
C2C12
C elegans
Regeneration
Laminopathy
Lamin A/C LMNA gene
Heart
Biological sciences
Alternative splicing
COL6A1
COL1A1
LGMD
Patient registry
Muscle
GNE
Clinical trial
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Connective tissue
IPSC
Myogenesis
Muscular dystrophy
Mouse
AAV VECTOR
CMTX
Butyrylcholinesterase
Calcium handling
Errance diagnostique
Nuclear envelope
AAV
Biomarker
Gene therapy
Allele‐specific silencing therapy
POPDC1
Angiotensin-converting enzyme inhibitor
INPP5K
Heart failure
Lamins
Congenital muscular dystrophy
Treatment
Hypermobile EDS
Acetyltransferase
CSF protein
Emerin
Base de données FAIR
Lamin A/C nuclei
COVID-19
Mutations
BVES
Lamin A/C
Treatment delay
Muscle biopsy
Angiotensin-converting enzyme inhibitors
Myopathy
Dilated cardiomyopathy
RNA interference
Becker muscular dystrophy
Dystrophie musculaire
Duchenne muscular dystrophy
Adult SMA
A-type lamin
Myologie
Allele-specific silencing
Maladies rares et orphelines
LMNA-related congenital muscular dystrophy
Cancer
Cancer biomarkers
Actionable gene
Muscular dystrophy MD