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