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