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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
126
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Dystrophine
Becker muscular dystrophy
Ehlers‐Danlos Syndrome
Centronuclear myopathy
Allele-specific silencing therapy
Biomarker
Therapy
Myologie
Autophagosome maturation
Titin
GNE
Diagnosis
IPSC
BiP
Biological sciences
Cardiac conduction system
Rare neuromuscular diseases
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Gene therapy
Alternative splicing
CSF protein
Connective tissue
Laminopathies
Maladies rares et orphelines
Mutations
Dilated cardiomyopathy
A-type lamin
Allele‐specific silencing therapy
POPDC1
Heart failure
CRISPR
Skeletal muscle
Rare diseases
A-type lamins
Regeneration
Joint laxity
Exome
Dynamin 2
LMNA
COL6A1
Calcium handling
Actionability
Myogenesis
Acetyltransferase
Muscle MRI
Treatment
Allele-specific silencing
Laminopathie
Lamin A/C
COL1A1
Cancer biomarkers
Treatment delay
LGMD
Muscle
Patient registry
Lamin A/C LMNA gene
Butyrylcholinesterase
Nuclear envelope
LMNA-related congenital muscular dystrophy
Mouse
Muscle biopsy
AAV
Hypermobile EDS
Neuromuscular diseases
Lamin A/C nuclei
Dystrophie musculaire
Congenital muscular dystrophy
Cancer
Heart
C elegans
BVES
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
CMTX
LMNA gene
Muscular dystrophy
Clinical trial
C2C12
Laminopathy
Duchenne muscular dystrophy
Lamins
Actionable gene
COVID-19
Errance diagnostique
Muscular dystrophy MD
Myopathies
Base de données FAIR
Emery-Dreifuss muscular dystrophy
RNA interference
INPP5K
Myopathy
Angiotensin-converting enzyme inhibitors
Emerin
Myotubes
Next generation sequencing
Angiotensin-converting enzyme inhibitor
Cardiomyopathy
Adult SMA
Maladies rares
Cardiology
AAV VECTOR