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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
124
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Cardiac conduction system
LGMD
INPP5K
Myotubes
LMNA-related congenital muscular dystrophy
A-type lamins
CRISPR
AAV VECTOR
LMNA gene
RNA interference
Titin
C elegans
Laminopathie
Becker muscular dystrophy
Actionability
Butyrylcholinesterase
Dystrophie musculaire
BiP
Biomarker
Myopathy
Angiotensin-converting enzyme inhibitor
Rare diseases
COVID-19
Allele‐specific silencing therapy
Lamins
Adult SMA
Ehlers‐Danlos Syndrome
Maladies rares et orphelines
Laminopathies
Duchenne muscular dystrophy
Exome
Hypermobile EDS
Connective tissue
A-type lamin
Joint laxity
Emerin
Cardiology
Rare neuromuscular diseases
Calcium handling
Gene therapy
Myogenesis
CSF protein
Centronuclear myopathy
Muscle MRI
C2C12
IPSC
Nuclear envelope
Actionable gene
CMTX
Acetyltransferase
Errance diagnostique
Lamin A/C
Dystrophine
Maladies rares
Allele-specific silencing therapy
Treatment delay
Base de données FAIR
Heart
Muscle biopsy
Cancer biomarkers
Dilated cardiomyopathy
BVES
Cardiomyopathy
Muscular dystrophy MD
Cancer
Muscular dystrophy
Congenital muscular dystrophy
Diagnosis
Laminopathy
Mouse
Next generation sequencing
Clinical trial
Regeneration
AAV
Muscle
Alternative splicing
Autophagosome maturation
Lamin A/C nuclei
Heart failure
Mutations
Treatment
COL1A1
POPDC1
Patient registry
Emery-Dreifuss muscular dystrophy
Therapy
COL6A1
Skeletal muscle
Lamin A/C LMNA gene
Neuromuscular diseases
Biological sciences
Dynamin 2
Allele-specific silencing
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
GNE
Angiotensin-converting enzyme inhibitors
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Myopathies
Myologie
LMNA