Loading...
Dernières publications
-
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⟩
-
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⟩
-
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⟩
-
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
124
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
POPDC1
COL1A1
Ehlers‐Danlos Syndrome
Allele‐specific silencing therapy
Actionability
Hypermobile EDS
Butyrylcholinesterase
Laminopathie
Lamin A/C nuclei
CMTX
Muscle biopsy
Cancer biomarkers
Treatment
Exome
Connective tissue
Mutations
Lamin A/C
CRISPR
LMNA gene
LMNA-related congenital muscular dystrophy
Myologie
Biomarker
Cancer
Dilated cardiomyopathy
Myotubes
Myogenesis
Titin
CSF protein
Heart
Base de données FAIR
Maladies rares et orphelines
Neuromuscular diseases
Emerin
Muscle
C elegans
Therapy
A-type lamins
Myopathies
Becker muscular dystrophy
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Biological sciences
Rare diseases
Joint laxity
IPSC
Emery-Dreifuss muscular dystrophy
Cardiomyopathy
C2C12
Heart failure
Autophagosome maturation
Dynamin 2
Alternative splicing
Allele-specific silencing
BVES
Actionable gene
Lamins
Clinical trial
Muscular dystrophy MD
Next generation sequencing
Calcium handling
Treatment delay
Duchenne muscular dystrophy
INPP5K
Patient registry
Centronuclear myopathy
LGMD
Angiotensin-converting enzyme inhibitor
AAV
Laminopathy
LMNA
Errance diagnostique
Dystrophine
Cardiac conduction system
Cardiology
GNE
COVID-19
Nuclear envelope
RNA interference
Muscular dystrophy
Acetyltransferase
Lamin A/C LMNA gene
AAV VECTOR
Dystrophie musculaire
Regeneration
Myopathy
Muscle MRI
Adult SMA
Laminopathies
Maladies rares
Gene therapy
Skeletal muscle
Diagnosis
COL6A1
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Rare neuromuscular diseases
BiP
Congenital muscular dystrophy
Allele-specific silencing therapy
Mouse
Angiotensin-converting enzyme inhibitors
A-type lamin