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
121
Publications avec texte intégral
1
Données de recherche
Open Access
47 %
Mots clés
Titin
Mutations
Cardiomyopathy
C2C12
Muscular dystrophy
LMNA
Myologie
A-type lamins
GNE
Nuclear envelope
Treatment
COL6A1
Actionability
Connective tissue
Clinical trial
Mouse
Allele-specific silencing
Dilated cardiomyopathy
Cancer
Rare neuromuscular diseases
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
COVID-19
Muscle
Cancer biomarkers
Laminopathy
Angiotensin-converting enzyme inhibitor
Laminopathie
CRISPR
INPP5K
C elegans
Muscular dystrophy MD
Dystrophine
Angiotensin-converting enzyme inhibitors
Lamin A/C
Exome
A-type lamin
POPDC1
Laminopathies
Diagnosis
Neuromuscular diseases
Maladies rares
Actionable gene
BVES
Emerin
Centronuclear myopathy
CMTX
Myopathy
BiP
Cardiology
Therapy
Maladies rares et orphelines
Patient registry
Next generation sequencing
Errance diagnostique
Autophagosome maturation
Heart
Duchenne muscular dystrophy
Myopathies
Joint laxity
Skeletal muscle
LMNA-related congenital muscular dystrophy
Heart failure
Regeneration
CSF protein
Dynamin 2
Muscle biopsy
AAV VECTOR
LMNA gene
Myotubes
Lamin A/C nuclei
Gene therapy
Calcium handling
Hypermobile EDS
Ehlers‐Danlos Syndrome
Dystrophie musculaire
Lamins
COL1A1
Base de données FAIR
LGMD
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
IPSC
Adult SMA
Rare diseases
Lamin A/C LMNA gene
Emery-Dreifuss muscular dystrophy
Muscle MRI
Biomarker
Allele‐specific silencing therapy
Butyrylcholinesterase
Alternative splicing
Cardiac conduction system
Myogenesis
Congenital muscular dystrophy
RNA interference
AAV
Treatment delay
Biological sciences
Acetyltransferase
Allele-specific silencing therapy