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Derniers dépôts
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Vanessa Ueberschlag-Pitiot, Amalia Stantzou, Julien Messéant, Megane Lemaitre, Daniel Owens, et al.. Gonad-related factors promote muscle performance gain during postnatal development in male and female mice. AJP - Endocrinology and Metabolism, 2017, 313 (1), pp.E12-E25. ⟨10.1152/ajpendo.00446.2016⟩. ⟨hal-03677800⟩
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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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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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Myoblasts
CMS
Therapy
Myotonic dystrophy type 1
Laminopathie
Duchenne muscular dystrophy
Rare neuromuscular diseases
Trinucleotide repeat expansion
Congenital muscular dystrophy
Male
LMNA
Autoimmunity
Biomarker
Satellite cells
Alternative splicing
Regeneration
Treatment
Antisense oligonucleotides
Neuromuscular disease
Thérapie génique
Actin
OPMD
Aged
Cell therapy
Myotonic dystrophy
Fabry disease
Humans
LMNA gene
Myopathies
Transcriptomics
Calcium
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Cardiomyopathy
CTG repeat contractions
Diagnosis
Cytoskeleton
Amyotrophic lateral sclerosis
Myasthenia Gravis MG
Cancer
Thymus
Astrocyte
Satellite cell
Outcome measures
Congenital myopathy
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Myasthenia gravis
Brain
RNA interference
RNA biology
Motoneuron
Neuromuscular diseases
PABPN1
AAV
Glutamate
Muscle
Centronuclear myopathy
Genotype phenotype correlation
DMD
Gene therapy
Myotonic Dystrophy type 1
Neuromuscular junction
COVID-19
Nuclear envelope
Clinical trials
Lamin A/C
Dermatomyositis
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Muscle regeneration
Errance diagnostique
Myogenesis
Lamin A/C LMNA gene
ALS
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Muscular dystrophy
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Exercise
Heart
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Autoantibodies
Heart failure
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Transgenic mouse model
Dynamin 2
MBNL
Autophagy
Myotonic Dystrophy
Fibrosis
Inflammation
Becker muscular dystrophy
Myopathy
Rare diseases
Mechanotransduction
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Long read sequencing
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