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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
122
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Cardiac conduction system
INPP5K
Laminopathie
Regeneration
CRISPR
Calcium handling
POPDC1
Ehlers‐Danlos Syndrome
Congenital muscular dystrophy
Dilated cardiomyopathy
Clinical trial
Angiotensin-converting enzyme inhibitors
Muscle MRI
BVES
Alternative splicing
Lamin A/C
Maladies rares et orphelines
Becker muscular dystrophy
Angiotensin-converting enzyme inhibitor
Allele‐specific silencing therapy
AAV VECTOR
Mouse
Emerin
LMNA
GNE
Nuclear envelope
Biomarker
Gene therapy
C2C12
IPSC
Cardiomyopathy
Dynamin 2
Adult SMA
Titin
CSF protein
COL6A1
Lamins
Cancer
Myogenesis
Mutations
AAV
Skeletal muscle
LMNA-related congenital muscular dystrophy
Lamin A/C nuclei
Hypermobile EDS
Treatment delay
Heart
Base de données FAIR
COVID-19
Connective tissue
Treatment
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
CMTX
Muscular dystrophy
Actionability
RNA interference
Centronuclear myopathy
Lamin A/C LMNA gene
COL1A1
Next generation sequencing
Myologie
Duchenne muscular dystrophy
Myopathy
Joint laxity
LMNA gene
Allele-specific silencing
Muscular dystrophy MD
Cardiology
Laminopathies
Laminopathy
A-type lamin
Muscle biopsy
Rare diseases
Autophagosome maturation
Dystrophie musculaire
Emery-Dreifuss muscular dystrophy
A-type lamins
Myotubes
BiP
Neuromuscular diseases
Myopathies
Actionable gene
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Diagnosis
Rare neuromuscular diseases
Therapy
Patient registry
Dystrophine
Errance diagnostique
LGMD
Maladies rares
Butyrylcholinesterase
Cancer biomarkers
Exome
Acetyltransferase
Muscle
Biological sciences
Heart failure
Allele-specific silencing therapy
C elegans