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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
122
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Rare neuromuscular diseases
Acetyltransferase
Emery-Dreifuss muscular dystrophy
BiP
Myopathy
Muscle biopsy
Angiotensin-converting enzyme inhibitors
LGMD
AAV
Myotubes
Lamin A/C
Errance diagnostique
Laminopathie
IPSC
Next generation sequencing
COVID-19
Butyrylcholinesterase
Dystrophine
Mutations
Laminopathy
CSF protein
Cardiac conduction system
POPDC1
Cardiomyopathy
Cardiology
Allele-specific silencing
Skeletal muscle
Clinical trial
Treatment
C2C12
Titin
LMNA
A-type lamins
CRISPR
Adult SMA
Rare diseases
Regeneration
Lamin A/C nuclei
Biological sciences
Hypermobile EDS
Maladies rares et orphelines
Myologie
Allele-specific silencing therapy
Heart failure
Actionable gene
Muscle MRI
Laminopathies
Ehlers‐Danlos Syndrome
LMNA gene
COL1A1
Becker muscular dystrophy
Patient registry
Biomarker
Angiotensin-converting enzyme inhibitor
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Therapy
Cancer biomarkers
GNE
Nuclear envelope
COL6A1
Centronuclear myopathy
Emerin
LMNA-related congenital muscular dystrophy
Lamin A/C LMNA gene
Neuromuscular diseases
Myogenesis
BVES
A-type lamin
Exome
Duchenne muscular dystrophy
Muscle
Dilated cardiomyopathy
Base de données FAIR
Connective tissue
Treatment delay
INPP5K
AAV VECTOR
Dystrophie musculaire
Muscular dystrophy
C elegans
Diagnosis
Maladies rares
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Myopathies
Congenital muscular dystrophy
Lamins
Alternative splicing
RNA interference
Mouse
Calcium handling
Joint laxity
CMTX
Actionability
Cancer
Allele‐specific silencing therapy
Gene therapy
Heart
Autophagosome maturation
Muscular dystrophy MD
Dynamin 2