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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⟩
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Chiffres clés
121
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Titin
IPSC
Allele‐specific silencing therapy
Nuclear envelope
CSF protein
Muscular dystrophy MD
POPDC1
Dystrophine
Mutations
Biological sciences
Myopathies
BVES
Rare neuromuscular diseases
Clinical trial
AAV
Lamins
Muscle MRI
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Dystrophie musculaire
Actionability
Next generation sequencing
Myogenesis
Exome
Butyrylcholinesterase
Allele-specific silencing
Lamin A/C LMNA gene
Myotubes
Allele-specific silencing therapy
Treatment
Heart
Dilated cardiomyopathy
Myopathy
Therapy
Mouse
Patient registry
Rare diseases
Ehlers‐Danlos Syndrome
Dynamin 2
LGMD
Cardiac conduction system
Maladies rares et orphelines
Calcium handling
A-type lamin
COL6A1
Regeneration
LMNA-related congenital muscular dystrophy
Laminopathy
Acetyltransferase
Connective tissue
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Congenital muscular dystrophy
Alternative splicing
Muscle
C elegans
Heart failure
INPP5K
Biomarker
Joint laxity
Laminopathie
Treatment delay
Cancer biomarkers
Base de données FAIR
Myologie
RNA interference
AAV VECTOR
Centronuclear myopathy
Lamin A/C nuclei
Angiotensin-converting enzyme inhibitor
Cardiomyopathy
Maladies rares
Becker muscular dystrophy
COL1A1
Muscular dystrophy
Emerin
GNE
Errance diagnostique
Actionable gene
LMNA gene
A-type lamins
CRISPR
BiP
Gene therapy
Skeletal muscle
C2C12
Cardiology
CMTX
Lamin A/C
Autophagosome maturation
COVID-19
Duchenne muscular dystrophy
Muscle biopsy
Angiotensin-converting enzyme inhibitors
Cancer
Neuromuscular diseases
Diagnosis
Laminopathies
Hypermobile EDS
Emery-Dreifuss muscular dystrophy
LMNA
Adult SMA