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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
126
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Butyrylcholinesterase
Nuclear envelope
Myopathies
Biomarker
Cardiomyopathy
AAV VECTOR
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
CSF protein
Dystrophine
Errance diagnostique
C2C12
LMNA gene
Autophagosome maturation
Muscular dystrophy MD
Becker muscular dystrophy
CRISPR
Lamin A/C
Actionable gene
Muscle MRI
Acetyltransferase
Rare diseases
Angiotensin-converting enzyme inhibitors
Muscle biopsy
COL6A1
LMNA-related congenital muscular dystrophy
Maladies rares et orphelines
COL1A1
Connective tissue
Alternative splicing
Emerin
Ehlers‐Danlos Syndrome
Maladies rares
Next generation sequencing
Diagnosis
Muscular dystrophy
A-type lamins
Heart failure
Joint laxity
Myotubes
Allele-specific silencing therapy
Lamin A/C LMNA gene
Cardiac conduction system
Duchenne muscular dystrophy
Clinical trial
INPP5K
Rare neuromuscular diseases
Neuromuscular diseases
Actionability
Cancer
Myogenesis
POPDC1
Patient registry
Angiotensin-converting enzyme inhibitor
IPSC
Therapy
A-type lamin
COVID-19
LGMD
Myologie
Biological sciences
Mutations
Hypermobile EDS
Lamins
Titin
Allele-specific silencing
Centronuclear myopathy
Base de données FAIR
Heart
C elegans
Emery-Dreifuss muscular dystrophy
Dynamin 2
Dilated cardiomyopathy
Laminopathie
Lamin A/C nuclei
Myopathy
Treatment
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Calcium handling
Laminopathy
Adult SMA
RNA interference
Skeletal muscle
Treatment delay
LMNA
CMTX
Dystrophie musculaire
Congenital muscular dystrophy
Cardiology
BVES
BiP
Muscle
Laminopathies
Regeneration
AAV
Cancer biomarkers
Gene therapy
GNE
Allele‐specific silencing therapy
Exome
Mouse