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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
123
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Duchenne muscular dystrophy
Centronuclear myopathy
Allele-specific silencing
RNA interference
Exome
Treatment delay
Rare diseases
INPP5K
Dystrophine
CMTX
Treatment
Diagnosis
Lamin A/C
GNE
COVID-19
LGMD
Ehlers‐Danlos Syndrome
Connective tissue
Myopathies
LMNA gene
Therapy
COL6A1
Myogenesis
Maladies rares
IPSC
LMNA-related congenital muscular dystrophy
AAV VECTOR
Muscular dystrophy
Mutations
Patient registry
Angiotensin-converting enzyme inhibitor
Laminopathie
Next generation sequencing
Muscular dystrophy MD
Lamin A/C nuclei
Acetyltransferase
Allele‐specific silencing therapy
C2C12
Maladies rares et orphelines
Skeletal muscle
Myotubes
Muscle biopsy
C elegans
Actionable gene
Lamin A/C LMNA gene
Titin
Heart failure
POPDC1
A-type lamins
Adult SMA
Nuclear envelope
Laminopathies
Muscle
Cardiomyopathy
Heart
Autophagosome maturation
Laminopathy
Errance diagnostique
Cardiac conduction system
Cancer
Angiotensin-converting enzyme inhibitors
CSF protein
Muscle MRI
Calcium handling
Clinical trial
Mouse
Rare neuromuscular diseases
Congenital muscular dystrophy
Regeneration
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Dynamin 2
Gene therapy
Dilated cardiomyopathy
Joint laxity
COL1A1
Lamins
LMNA
Becker muscular dystrophy
Neuromuscular diseases
Actionability
Emery-Dreifuss muscular dystrophy
Hypermobile EDS
A-type lamin
Allele-specific silencing therapy
Alternative splicing
BiP
CRISPR
Cardiology
Biomarker
Dystrophie musculaire
Biological sciences
Base de données FAIR
Myologie
BVES
AAV
Myopathy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Cancer biomarkers
Butyrylcholinesterase
Emerin