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Derniers dépôts
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Gillian S. Butler-Browne, Fanny Roth, Negroni Elisa, Vincent Mouly, Capucine Trollet. 240th ENMC workshop: The involvement of skeletal muscle stem cells in the pathology of muscular dystrophies 25-27 January 2019, Hoofddorp, The Netherlands. 240th ENMC workshop, 2019, Amsterdam, Netherlands. pp.704-715, ⟨10.1016/j.nmd.2019.07.003⟩. ⟨hal-04011177⟩
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Marielle Brockhoff, Nathalie Rion, Kathrin Chojnowska, Tatiana Wiktorowicz, Christopher Eickhorst, et al.. Targeting deregulated AMPK/mTORC1 pathways improves muscle function in myotonic dystrophy type I. Journal of Clinical Investigation, 2017, 127 (2), pp.549-563. ⟨10.1172/JCI89616⟩. ⟨hal-03830899⟩
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Julien Messéant, Alexandre Dobbertin, Emmanuelle Girard, Perrine Delers, Marin Manuel, et al.. MuSK frizzled-like domain is critical for mammalian neuromuscular junction formation and maintenance.. Journal of Neuroscience, 2015, 35 (12), pp.4926-4941. ⟨10.1523/JNEUROSCI.3381-14.2015⟩. ⟨hal-01165625⟩
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Anaís Mariscal, Carmen Martínez, Lea Goethals, Elena Cortés-Vicente, Elisabeth Moltó, et al.. Modified radioimmunoassay versus ELISA to quantify anti-acetylcholine receptor antibodies in a mouse model of myasthenia gravis. Journal of Immunological Methods, 2024, 534, pp.113748. ⟨10.1016/j.jim.2024.113748⟩. ⟨hal-04774927⟩
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LMNA
Transcriptomics
Autophagy
Genetics
Neuromuscular diseases
Cell therapy
RNA interference
Satellite cell
Duchenne muscular dystrophy
Skeletal muscle
Heart failure
Animals
CTG repeat contractions
Therapy
OPMD
COVID-19
AAV
CMS
Muscle regeneration
Amyotrophic lateral sclerosis
Regeneration
Antibodies
LMNA gene
Alternative splicing
Long read sequencing
Astrocyte
Aged
Antisense oligonucleotides
Myotonic dystrophy
Autoantibodies
Cytokines
Cardiomyopathy
Rare neuromuscular diseases
Myotonic Dystrophy type 1
RNA biology
Biomarkers
Laminopathy
Satellite cells
Laminopathie
Centronuclear myopathy
Biomarker
Cytoskeleton
Myopathy
Myoblasts
Exercise
Spinal muscular atrophy
CRISPRi
Aging
Thymus
Dilated cardiomyopathy
Becker muscular dystrophy
Dynamin 2
Muscular dystrophy
Autoimmune diseases
Myotonic Dystrophy
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Laminopathies
Lamin A/C LMNA gene
Glutamate
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Humans
Genotype phenotype correlation
Fabry disease
Heart
Congenital muscular dystrophy
Nuclear envelope
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Myositis
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Myotonic dystrophy type 1
DMD
MBNL
Myasthenia Gravis MG
Autoimmunity
Myogenesis
ALS
Neuromuscular junction
PABPN1
Errance diagnostique
Rare diseases
Congenital myopathy
Male
Treatment
Motoneuron
Muscle
Lamin A/C
Thérapie génique
Neuromuscular disease
Myasthenia gravis
Outcome measures