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Derniers dépôts
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Medhi Hassani, Dylan Moutachi, Mégane Lemaitre, Alexis Boulinguiez, Denis Furling, et al.. Beneficial effects of resistance training on both mild and severe mouse dystrophic muscle function as a preclinical option for Duchenne muscular dystrophy. PLoS ONE, 2024, 19, ⟨10.1371/journal.pone.0295700⟩. ⟨hal-04501283⟩
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Pierre Joanne, Yeranuhi Hovhannisyan, Alexandre Simon, Gaëlle Revet, Romain Diot, et al.. Generation of human induced pluripotent stem cell lines from five patients with Myofibrillar myopathy carrying different heterozygous mutations in the DES gene. Stem Cell Research, 2024, 76, pp.103338. ⟨10.1016/j.scr.2024.103338⟩. ⟨hal-04466294⟩
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Pascal Laforêt, Michio Inoue, Evelyne Goillot, Claire Lefeuvre, Umut Cagin, et al.. Deep morphological analysis of muscle biopsies from type III glycogenesis (GSDIII), debranching enzyme deficiency, revealed stereotyped vacuolar myopathy and autophagy impairment. Acta Neuropathologica Communications, 2019, 7 (1), ⟨10.1186/s40478-019-0815-2⟩. ⟨hal-02414161⟩
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Florence Boisgérault, Amine Meliani, Romain Hardet, Solenne Marmier, Fanny Collaud, et al.. Antigen-selective modulation of AAV immunogenicity with tolerogenic rapamycin nanoparticles enables successful vector re-administration. Nature Communications, 2018, 9 (1), pp.4098. ⟨10.1038/s41467-018-06621-3⟩. ⟨hal-02177709⟩
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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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Lidia Almenara-Fuentes, Silvia Rodriguez-Fernandez, Estela Rosell-Mases, Katerina Kachler, Axel You, et al.. A new platform for autoimmune diseases. Inducing tolerance with liposomes encapsulating autoantigens. Nanomedicine: Nanotechnology, Biology and Medicine, 2023, pp.102635. ⟨10.1016/j.nano.2022.102635⟩. ⟨hal-03885962⟩
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Florent Porquet, Lin Weidong, Kévin Jehasse, Hélène Gazon, Maria Kondili, et al.. Specific DMPK-promoter targeting by CRISPRi reverses myotonic dystrophy type 1-associated defects in patient muscle cells. Molecular Therapy - Nucleic Acids, 2023, 32, pp.857 - 871. ⟨10.1016/j.omtn.2023.05.007⟩. ⟨hal-04287597⟩
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Amyotrophic lateral sclerosis
DMD
Autoimmune diseases
Treatment
Cytoskeleton
Fibrosis
LMNA gene
Myogenesis
Aged
Myotonic dystrophy
Gene therapy
Laminopathie
Actin
Neuromuscular diseases
Mechanotransduction
Congenital muscular dystrophy
Becker muscular dystrophy
Mouse model
Dynamin 2
Brain
Alternative splicing
ALS
Myoblasts
MBNL
Thymus
Transgenic mouse model
Humans
Myasthenia gravis
CTG repeat contractions
Laminopathies
Transcriptomics
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Neuromuscular disease
Calcium
Autoimmunity
Regeneration
Myotonic Dystrophy
PABPN1
Cardiomyopathy
Exercise
Biomarkers
CRISPRi
Heart failure
Diagnosis
RNA interference
Errance diagnostique
Animals
Lamin A/C
Muscle
Trinucleotide repeat expansion
Nuclear envelope
Autoantibodies
Dystrophin
Satellite cells
Astrocyte
Long read sequencing
Outcome measures
Motoneuron
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Muscle regeneration
Duchenne muscular dystrophy
Myotonic dystrophy type 1
LMNA
COVID-19
Biomarker
Inflammation
Dermatomyositis
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Glutamate
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Autophagy
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Myositis
Fabry disease
Rare neuromuscular diseases
Heart
Skeletal muscle
Muscular dystrophy
Genotype phenotype correlation
Neuromuscular junction
Myotonic Dystrophy type 1
RNA biology
Rare diseases
OPMD
Lamin A/C LMNA gene
FSHD
Cytokines
AAV
CMS
Antisense oligonucleotides
Centronuclear myopathy