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