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