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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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Congenital myopathy
Exercise
Inflammation
Autoimmune diseases
Myotonic dystrophy
Muscle
Heart failure
Aged
Becker muscular dystrophy
Antisense oligonucleotides
Dynamin 2
DMD
AAV
Transcriptomics
Muscle regeneration
FSHD
Humans
Diagnosis
Calcium
Male
Brain
RNA interference
Autophagy
Thérapie génique
Duchenne muscular dystrophy
Laminopathy
Satellite cells
Satellite cell
Fabry disease
Rare diseases
Long read sequencing
Thymus
CMS
Alternative splicing
CTG repeat contractions
Motoneuron
Myotonic dystrophy type 1
Actin
Aging
Neuromuscular disease
Congenital muscular dystrophy
Cancer
Genotype phenotype correlation
PABPN1
ALS
Trinucleotide repeat expansion
Autoimmunity
Mechanotransduction
Myasthenia Gravis MG
Lamin A/C
Regeneration
Myositis
Myasthenia gravis
Myopathy
Therapy
Skeletal muscle
Myotonic Dystrophy type 1
Cytokines
LMNA gene
Lamin A/C LMNA gene
Animals
Laminopathie
Treatment
COVID-19
Neuromuscular diseases
Myoblasts
Glutamate
Muscular dystrophy
Cytoskeleton
Astrocyte
Clinical trials
Cell therapy
Amyotrophic lateral sclerosis
Biomarkers
Transgenic mouse model
Mouse model
Dilated cardiomyopathy
Centronuclear myopathy
Gene therapy
Errance diagnostique
Autoantibodies
Heart
MBNL
Rare neuromuscular diseases
Myopathies
Dermatomyositis
OPMD
Biomarker
RNA biology
Myogenesis
Dystrophin
CRISPRi
Laminopathies
Myotonic Dystrophy
Cardiomyopathy
LMNA
Nuclear envelope
Fibrosis
Neuromuscular junction
Outcome measures