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Blocking interleukin-23 ameliorates neuromuscular and thymic defects in myasthenia gravis

José A Villegas , Jérôme van Wassenhove , Judith Merrheim , Karen Matta , Samy Hamadache et al.
Journal of Neuroinflammation, 2023, 20 (1), pp.9. ⟨10.1186/s12974-023-02691-3⟩
Journal articles hal-03972909v1

Toxic CUG RNA repeats disrupt developmentally-regulated splicing in oligodendrocytes causing transient hypomyelination in a mouse model of myotonic dystrophy.

Louison Lallemant , Sandra Braz , Anchel González-Barriga , Paul Magneron , Aurélien Cordier et al.
The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France
Conference poster hal-04005524v1

Defects in mouse cortical glutamate uptake can be unveiled in vivo by a two-in-one quantitative microdialysis.

Alex Corscadden , Louison Lallemant , Hélène Benyamine , Jean-Christophe Comte , Aline Huguet-Lachon et al.
NeuroFrance, May 2023, Lyon, France
Conference poster hal-04005564v1

DM1 transgenic mice exhibit abnormal neurotransmitter homeostasis and synaptic plasticity in association with RNA mis-splicing in the hippocampus.

B Potier , Louison Lallemant , Sandrine Parrot , Aline Huguet-Lachon , Geneviève Gourdon et al.
NeuroFrance, May 2023, Lyon, France
Conference poster hal-04005556v1

Cytoskeleton abnormalities triggered by toxic CUG RNA repeats in DM1 astrocytes.

Paul Magneron , Louison Lallemant , Luis Guillermo Correa Parra , Mário Gomes-Pereira , Geneviève Gourdon et al.
NeuroFrance, May 2023, Lyon20, France
Conference poster hal-04005541v1

Cytoskeleton abnormalities triggered by toxic CUG RNA repeats in DM1 astrocytes.

Paul Magneron , Louison Lallemant , Luis Guillermo Correa Parra , Geneviève Gourdon , Mário Gomes-Pereira et al.
French Glial Cell Club, May 2023, Lyon, France
Conference poster hal-04005531v1

Characterization of the muscular and cardiac diseases of the DMSXL mouse model, a transgenic mouse model for Myotonic Dystrophy type 1

Caroline Le Guiner , Thibaut Larcher , Aude Lafoux , Gilles Toumaniantz , Geneviève Gourdon et al.
American Society of Gene and Cell Therapy, May 2023, Los Angeles, United States
Conference poster hal-04005583v1

Toxic RNA and glial cell pathology: deciphering brain dysfunction in myotonic dystrophy

Mário Gomes-Pereira
9th Molecular and Cell Biology Symposium, Feb 2023, Porto, Portugal
Conference papers hal-04007409v1
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Présentation des actions Recherche de la Filière en Santé Maladies Rares Neuromusculaires - FILNEMUS

Gisèle Bonne
2023
Videos hal-04000635v1

MBNL‐dependent impaired development within the neuromuscular system in myotonic dystrophy type 1

Julie Tahraoui-Bories , Antoine Mérien , Anchel González-Barriga , Jeanne Lainé , Céline Leteur et al.
Neuropathology and Applied Neurobiology, 2023, 49 (1), ⟨10.1111/nan.12876⟩
Journal articles hal-03992575v1

Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells

Julien Verdier , Odessa-Maud Fayet , Edouard Hemery , Frédérique Truffault , Natalia Pinzón et al.
Frontiers in Immunology, 2023, 14, ⟨10.3389/fimmu.2023.1083218⟩
Journal articles hal-04014082v1
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Single-cell mass cytometry on peripheral cells in Myasthenia Gravis identifies dysregulation of innate immune cells

Julien Verdier , Odessa-Maud Fayet , Edouard Hemery , Frédérique Truffault , Natalia Pinzón et al.
Frontiers in Immunology, 2023, 14, ⟨10.3389/fimmu.2023.1083218⟩
Journal articles hal-03972888v1

Expérience de l’utilisation des corticoïdes dans les laminopathies de l’enfant

Rocio García-Uzquiano , Marta Gómez-García de la Banda , Laure Le Goff , Véronique Manel , Ivana Dabaj et al.
32 ème congrès de la Société Française de Neurologie Pédiatrique, Marseille, Jan 2023, Marseille (FRANCE), France
Conference poster hal-04015316v1

The 2023 version of the gene table of neuromuscular disorders (nuclear genome)

Louise Benarroch , Gisèle Bonne , François Rivier , Dalil Hamroun
Neuromuscular Disorders, 2023, 33 (1), pp.76-117. ⟨10.1016/j.nmd.2022.12.002⟩
Journal articles hal-03964998v1

Skeletal Muscle

Bruno Cadot , Edgar Gomes
Encyclopedia of Cell Biology, Elsevier, pp.189-196, 2023, ⟨10.1016/B978-0-12-821618-7.00179-6⟩
Book sections hal-03938492v1

Central role of macrophages and nucleic acid release in Myasthenia Gravis thymus

Cloé Payet , Axel You , Odessa-Maud Fayet , Edouard Hemery , Frederique Truffault et al.
Annals of Neurology, In press, ⟨10.1002/ana.26590⟩
Journal articles pasteur-03927224v1

A new AAV-mediated gene therapy approach for C9orf72-linked ALS

Marisa Cappella
Inaugural Symposium of the Sorbonne Université "Stem Cells and Regenerative Medicine" Network, Dec 2022, PARIS, France
Conference papers hal-04006616v1

Bioengineering a Miniaturized In Vitro 3D Myotube Contraction Monitoring Chip To Model Muscular Dystrophies

Nicolas Rose , Berenice Estrada Chavez , Surabhi Sonam , Thao Nguyen , Gianluca Grenci et al.
Journal articles hal-03278692v1
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Editorial: Extracellular matrix in homeostasis and cancer

Ana Rita Carlos , Valérie Allamand
Frontiers in Genetics, 13, 2022, Extracellular matrix in homeostasis and cancer, ⟨10.3389/fgene.2022.1107969⟩
Special issue hal-03968194v1

Long read sequencing in DM1

Stéphanie Tomé
Workshop on Long read sequencing of expanded tandem repeats, Dec 2022, London, United Kingdom
Conference papers hal-04004440v1

Actin-microtubule cytoskeletal interplay mediated by MRTF-A/SRF signaling promotes dilated cardiomyopathy caused by LMNA mutations

Caroline Le Dour , Maria Chatzifrangkeskou , Coline Macquart , Maria Magiera , Cécile Peccate et al.
Nature Communications, 2022, 13 (1), pp.7886. ⟨10.1038/s41467-022-35639-x⟩
Journal articles hal-04032917v1

Diagnostic yield of a practical electrodiagnostic protocol discriminating between different congenital myasthenic syndromes

Tanya Stojkovic , Marion Masingue , Helène Turmel , Marianne Hezode-Arzel , Anthony Béhin et al.
Neuromuscular Disorders, 2022, 32 (11-12), pp.870-878. ⟨10.1016/j.nmd.2022.10.001⟩
Journal articles hal-03993811v1

Neonatal gene therapy achieves sustained disease rescue of maple syrup urine disease in mice

Clément Pontoizeau , Marcelo Simon-Sola , Clovis Gaborit , Vincent Nguyen , Irina Rotaru et al.
Nature Communications, 2022, 13 (1), pp.3278. ⟨10.1038/s41467-022-30880-w⟩
Journal articles hal-03862521v1

Les agrégats nucléaires dans la dystrophie musculaire oculopharyngée

Alexis Boulinguiez , Fany Roth , Hadidja Rose Mouigni , Gillian Butler-Browne , Vincent Mouly et al.
médecine/sciences, 2022, 38, pp.13 - 16. ⟨10.1051/medsci/2022175⟩
Journal articles hal-03997379v1
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Muscle regeneration affects Adeno Associated Virus 1 mediated transgene transcription

Amédée Mollard , Cécile Peccate , Anne Forand , Julie Chassagne , Laura Julien et al.
Scientific Reports, 2022, 12 (1), pp.9674. ⟨10.1038/s41598-022-13405-9⟩
Journal articles hal-03828271v1

Severe ACTA1-related nemaline myopathy: intranuclear rods, cytoplasmic bodies, and enlarged perinuclear space as characteristic pathological features on muscle biopsies

Clémence Labasse , Guy Brochier , Ana-Lia Taratuto , Bruno CADOT , John Rendu et al.
Acta Neuropathologica Communications, 2022, 10 (1), pp.101. ⟨10.1186/s40478-022-01400-0⟩
Journal articles hal-03820052v1

A new platform for autoimmune diseases. Inducing tolerance with liposomes encapsulating autoantigens

Lidia Almenara-Fuentes , Silvia Rodriguez-Fernandez , Estela Rosell-Mases , Katerina Kachler , Axel You et al.
Nanomedicine: Nanotechnology, Biology and Medicine, 2022, pp.102635. ⟨10.1016/j.nano.2022.102635⟩
Journal articles hal-03885962v1
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Update on anti-fibrotic pharmacotherapies in skeletal muscle disease

Laura Muraine , Mona Bensalah , Gillian Butler-Browne , Anne Bigot , Capucine Trollet et al.
Current Opinion in Pharmacology, 2022, 68, pp.102332. ⟨10.1016/j.coph.2022.102332⟩
Journal articles hal-03997340v1

Inactivation of Sirt6 ameliorates muscular dystrophy in mdx mice by releasing suppression of utrophin expression

Angelina Georgieva , Xinyue Guo , Marek Bartkuhn , Stefan Günther , Carsten Künne et al.
Nature Communications, 2022, 13 (1), pp.4184. ⟨10.1038/s41467-022-31798-z⟩
Journal articles hal-03832681v1
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Duchenne muscular dystrophy trajectory in R-DMDdel52 preclinical rat model identifies COMP as biomarker of fibrosis

Valentina Taglietti , Kaouthar Kefi , Iwona Bronisz-Budzyńska , Busra Mirciloglu , Mathilde Rodrigues et al.
Acta Neuropathologica Communications, 2022, 10 (1), ⟨10.1186/s40478-022-01355-2⟩
Journal articles hal-03828280v1