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