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Dernières publications
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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⟩
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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⟩
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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⟩
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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
126
Publications avec texte intégral
1
Données de recherche
Open Access
48 %
Mots clés
Muscle
LMNA
Cancer biomarkers
CMTX
Dynamin 2
Gene therapy
Becker muscular dystrophy BMD Duchenne muscular dystrophy DMD miRNA nNOS
Neuromuscular diseases
Skeletal muscle
IPSC
CSF protein
Ehlers‐Danlos Syndrome
A-type lamins
Patient registry
CRISPR
Calcium handling
C2C12
Laminopathy
Treatment
Errance diagnostique
C elegans
Centronuclear myopathy
Myopathies
Lamin A/C LMNA gene
Cancer
Titin
Angiotensin-converting enzyme inhibitor
BiP
RNA interference
Dystrophie musculaire
Cardiac conduction system
Muscular dystrophy MD
AAV VECTOR
Maladies rares et orphelines
Becker muscular dystrophy
Emerin
Angiotensin-converting enzyme inhibitors
Muscle MRI
Myologie
AAV
Diagnosis
LMNA-related congenital muscular dystrophy
Joint laxity
Mutations
Clinical trial
Rare neuromuscular diseases
Connective tissue
Treatment delay
COL6A1
GNE
Rare diseases
Congenital muscular dystrophy
Allele‐specific silencing therapy
Cardiology
Hypermobile EDS
Duchenne muscular dystrophy
Emery-Dreifuss muscular dystrophy
Maladies rares
Muscle biopsy
Laminopathies
POPDC1
Actionability
LGMD
BVES
A-type lamin
Actionable gene
Heart failure
Dilated cardiomyopathy
Allele-specific silencing
Alternative splicing
Acetyltransferase
INPP5K
Cardiomyopathy
Lamins
Autophagosome maturation
Biomarker
Exome
Lamin A/C
Butyrylcholinesterase
LMNA gene
Myogenesis
COL6A3 Collagen VI-related myopathies NGS collagen type VI congenital muscular dystrophy CMD limb-girdle muscular dystrophy LGMD muscular MRI neuromuscular disorders
Myotubes
Muscular dystrophy
Adult SMA
COVID-19
Nuclear envelope
Heart
COL1A1
Therapy
Lamin A/C nuclei
Base de données FAIR
Allele-specific silencing therapy
Regeneration
Biological sciences
Mouse
Laminopathie
Next generation sequencing
Myopathy
Dystrophine