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