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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

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

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 , 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

Solve-NMD in Paris: Project results

Isabelle Nelson , German Demidov , Enzo Cohen , Aurélien Perrin , Mireille Cossée et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086236v1

SNV-InDel working group: Results and lessons learned from the analysis of 22,035 exomes and genomes from 6 European reference networks

Leslie Matalonga , Ida Paramonov , Wouter Steyaert , Heba Morsy , Daniel Danis et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086234v1

Titin copy number variations associated with dominant inherited phenotypes

Aurélien Perrin , Corinne Métay , Marco Savarese , Rabah Ben Yaou , German Demidov et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086226v1

Elucidating the molecular biology of Inclusion body Myositis through multi-omics analysis

Mridul Johari , Daphne Wijnbergen , Alaa Khan , Pedro Machado , Henry Houlden et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086230v1

Heterozygous SPTAN1 frameshift mutations cause distal myopathy with neurogenic features

Jonathan De Winter , Liedewei van De Vondel , Gisèle Bonne , Tanya Stojkovic , Sahar Elouej et al.
Solve-RD, Solving the unsolved Rare Diseases, Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference poster hal-04086227v1

Treatabolome DB: linking gene and variants with treatments for rare diseases

A. Corvó , L. Matalonga , C. Hernandez-Ferrer , R. Thompson , L. Carmody et al.
Solve-RD, Solving the unsolved Rare Diseases Final Meeting 2023, Apr 2023, Prague, Czech Republic
Conference papers hal-04086225v1
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Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation

Eline Lemerle , Jeanne Lainé , Marion Benoist , Gilles Moulay , Anne Bigot et al.
eLife, 2023, 12, ⟨10.7554/eLife.84139⟩
Journal articles hal-04094370v1

Linking actionable genes to the treatabolome in myopathies

Gisèle Bonne , Martin Krahn
NC-IUPHAR Symposium April 2023, Apr 2023, Paris, France
Conference papers hal-04078530v1

Caenorhabditis elegans models for striated muscle disorders caused by missense variants of human LMNA

Ellen Gregory , Shilpi Kalra , Trisha Brock , Gisèle Bonne , G.W. Gant Luxton et al.
2023
Preprints, Working Papers, ... hal-04066711v1
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TOR1AIP1-Associated Nuclear Envelopathies

Laurane Mackels , Xincheng Liu , Gisèle Bonne , Laurent Servais
International Journal of Molecular Sciences, 2023, 24, ⟨10.3390/ijms24086911⟩
Journal articles hal-04066690v1

Analyse volumétrique du tronc cérébral : prédictibilité de la fonction respiratoire et bulbaire dans la sclérose latérale amyotrophique

Mohammed Khamaysa , Muriel Lefort , Mélanie Pélégrini-Issac , Alexandra Lackmy-Vallée , Arnaud Preuilh et al.
JNLF 2023, Apr 2023, Lyon, France. pp.S140-S141, ⟨10.1016/j.neurol.2023.01.647⟩
Conference papers hal-04086695v1
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253rd ENMC international workshop: Striated muscle laminopathies - natural history and clinical trial readiness. 24-26 June 2022, Hoofddorp, The Netherlands

Lorenzo Maggi , Susana Quijano-Roy , Carsten Bönnemann , Gisèle Bonne
Neuromuscular Disorders, 2023, ⟨10.1016/j.nmd.2023.04.009⟩
Journal articles hal-04086238v1

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

Louise Benarroch , Gisèle Bonne , Francois 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