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⟩
-
-
-
Édouard Berling, Camille Verebi, Nadia Venturelli, Stéphane Vassilopoulos, Anthony Béhin, et al.. Caveolinopathy: Clinical, histological, and muscle imaging features and follow-up in a multicenter retrospective cohort. European Journal of Neurology, 2023, 30 (8), p.2506-2517. ⟨10.1111/ene.15832⟩. ⟨hal-04190879⟩
-
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⟩
-
Chiffres clés
129
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Treatment
Adult SMA
INPP5K
Myopathies
Skeletal muscle
Myotubes
Next generation sequencing
BVES
Lamins
LMNA
Regeneration
Acetyltransferase
Myologie
Biological sciences
Dystrophie musculaire
Nuclear envelope
LMNA-related congenital muscular dystrophy
Muscle
Dilated cardiomyopathy
Base de données FAIR
A-type lamin
Congenital muscular dystrophy
Angiotensin-converting enzyme inhibitors
Joint laxity
Muscular dystrophy MD
Maladies rares
Neuromuscular diseases
Cancer biomarkers
Clinical trial
IPSC
Errance diagnostique
Patient registry
COL6A1
COL1A1
Muscle MRI
Rare neuromuscular diseases
Mouse
Centronuclear myopathy
AAV VECTOR
POPDC1
Lamin A/C nuclei
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Maladies rares et orphelines
Cancer
Dynamin 2
Duchenne muscular dystrophy
CSF protein
Cardiomyopathy
Exome
LMNA gene
A-type lamins
Treatment delay
Allele-specific silencing
Mutations
Actionability
Angiotensin-converting enzyme inhibitor
Autophagosome maturation
Emery-Dreifuss muscular dystrophy
Ehlers‐Danlos Syndrome
Lamin A/C
Alternative splicing
Muscular dystrophy
Connective tissue
LGMD
Allele‐specific silencing therapy
BiP
Calcium handling
Laminopathy
AAV
Heart
Butyrylcholinesterase
Lamin A/C LMNA gene
Heart failure
Dystrophine
Therapy
Allele-specific silencing therapy
Muscle biopsy
Rare diseases
CMTX
Diagnosis
RNA interference
Myogenesis
CAV3
C2C12
C elegans
GNE
Becker muscular dystrophy
Hypermobile EDS
Gene
CRISPR
Emerin
Laminopathies
COVID-19
Biomarker
Myopathy
Gene therapy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Actionable gene
Laminopathie
Titin