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