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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
123
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
C2C12
AAV
Muscular dystrophy
Nuclear envelope
Cancer biomarkers
Laminopathies
AAV VECTOR
Maladies rares et orphelines
GNE
CSF protein
Hypermobile EDS
Maladies rares
Heart
Regeneration
Emery-Dreifuss muscular dystrophy
Errance diagnostique
Rare neuromuscular diseases
Biological sciences
Lamin A/C
Actionable gene
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
LMNA-related congenital muscular dystrophy
LMNA gene
Connective tissue
Butyrylcholinesterase
Titin
Cancer
Heart failure
Allele-specific silencing therapy
Lamin A/C LMNA gene
INPP5K
Dynamin 2
BVES
Lamins
BiP
Therapy
Patient registry
CMTX
Centronuclear myopathy
Gene therapy
Cardiomyopathy
Next generation sequencing
Myogenesis
Cardiology
A-type lamin
Duchenne muscular dystrophy
Biomarker
CRISPR
Rare diseases
Calcium handling
Cardiac conduction system
Emerin
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
LMNA
Laminopathie
Myotubes
POPDC1
Muscle biopsy
Dilated cardiomyopathy
Lamin A/C nuclei
Exome
Acetyltransferase
IPSC
C elegans
Adult SMA
Congenital muscular dystrophy
Myologie
Clinical trial
Mouse
Muscular dystrophy MD
COVID-19
Treatment delay
Dystrophie musculaire
Myopathy
Myopathies
LGMD
Skeletal muscle
Laminopathy
A-type lamins
Allele-specific silencing
Treatment
Mutations
RNA interference
Angiotensin-converting enzyme inhibitor
Allele‐specific silencing therapy
Autophagosome maturation
Becker muscular dystrophy
Neuromuscular diseases
Actionability
Joint laxity
Muscle MRI
Ehlers‐Danlos Syndrome
Diagnosis
COL1A1
COL6A1
Muscle
Angiotensin-converting enzyme inhibitors
Dystrophine
Base de données FAIR
Alternative splicing