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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

Concept de gènes actionnables et application dans le domaine neuromusculaire.

Gisèle Bonne , Martin Krahn
25èmes Journées Neuromusculaires de Marseille, Sep 2023, Marseille, France
Conference papers hal-04189737v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne
Ottawa NMD 2023 Conference, Sep 2023, Ottawa, Canada
Conference papers hal-04189748v1
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Mathematical modeling at the livestock-wildlife interface: scoping review of drivers of disease transmission between species

Brandon H. Hayes , Timothée Vergne , Mathieu Andraud , Nicolas Rose
Frontiers in Veterinary Science, 2023, 10, pp.1225446. ⟨10.3389/fvets.2023.1225446⟩
Journal articles hal-04223851v1

Cellular and Genomic Features of Muscle Differentiation from Isogenic Fibroblasts and Myoblasts

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana , et al.
Cells, 2023, 12 (15), pp.1995. ⟨10.3390/cells12151995⟩
Journal articles hal-04187751v1
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Cranial neural crest cells contribution to craniofacial bone development and regeneration

Piera Smeriglio , Zalc Antoine
Current Osteoporosis Reports, 2023
Journal articles hal-04166947v1

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

How to solve rare diseases: systematic pan-European data sharing and collaborative analysis: the Solve-RD project

Gisèle Bonne
15th Congress of the European Paedriatric Neurology Society, European Paedriatric Neurology Society, Jun 2023, Prague, Czech Republic
Conference papers hal-04189585v1

Insights in the pathophysiological mechanisms of striated muscle Laminopathies

Gisèle Bonne
European Meeting on Intermediate Filaments, Elly Hol, Jun 2023, Noorwijkerhout, Netherlands
Conference papers hal-04189581v1

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
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
French Glial Cell Club, May 2023, Lyon, France
Conference poster hal-04005531v1

Le Treatabolome : une base de donnée des traitements existant pour les maladies rares à l’échelle du gène/variant

Gisèle Bonne
Webinaire de la Filière en Santé Filnemus, May 2023, Paris, France
Conference papers hal-04189577v1

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

Caroline Le Guiner , T Larcher , A Lafoux , G Toumaniantz , S Webb , et al.
American Society of Gene & Cell Therapy, May 2023, LOS ANGELES, United States
Conference poster hal-04096181v1

DNA damage repair in LMNA-related congenital muscular dystrophy

Marine Leconte , Anne Bertrand , Zoheir Guesmia , Gisèle Bonne , Gisèle Bonne
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189722v1

Steroid treatment may change natural history in congenital laminopathies

Rocio Garcia-Uzquiano , Marta Gomez-García de La Banda , Laure Le Goff , Veronique Manel , Ivana Dabaj , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189730v1

Quantification of skeletal muscle strength in laminopathies

Valérie Decostre , Cathy Chikhaoui , Corinne Vigouroux , Susana Quijano-Roy , Karim Wahbi , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189561v1

Challenges in gene therapy for striated muscle laminopathy

Anne T Bertrand , Mariko Okubo , Astrid Brull , Maud Beuvin , Nathalie Mougenot , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04170075v1

Identification of potential genetic modifi ers underlying phenotypic variability in a French family with striated muscle laminopathies

Louise Benarroch , Anne T. Bertrand , Maud Beuvin , Isabelle Nelson , Naïra Naouar , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189567v1

Investigating lineage-specifi c phenotypes of laminopathies using induced pluripotent stem cells

Noreen Khokhar , Cathleen Hagemann , Luca Pinton , Daniel Moore , Jean-Marie Cuisset , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189725v1

Gene therapy for striated muscle laminopathy (in vivo study)

Mariko Okubo , Maud Beuvin , Astrid Brull , Nathalie Mougenot , Valérie Paradis , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189734v1

Using patient iPSC-derived skeletal muscle models for development of a CRISPR-based exon removal therapeutic strategy

Daniel Moore , Heather Steele-Stallard , Luca Pinton , Valentina Lionello , Salma Jalal , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189588v1

Modeling of LMNA p.H222P mutation- related cardiomyopathy using human induced pluripotent stem cells

Magali Seguret , C. Jouve , Z R. Al Sayed , C. Pereira , V. Ragot , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189728v1

Recent insights in the pathophysiological mechanisms of striated muscle laminopathies

Rabah Ben Yaou , Louise Benarroch , Marine Leconte , Maud Beuvin , Isabelle Nelson , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189555v1

Validation of Myo-converted fi broblasts as a relevant model to study chromatin organization defects in striated muscle laminopathies

Louise Benarroch , Julia Madsen-Østerbye , Mohamed Abdelhalim , Kamel Mamchaoui , Jessica Ohana , et al.
4th International Meeting on Laminopathies, May 2023, Madrid, Spain. ⟨10.3233/JND-239001⟩
Conference papers hal-04189720v1

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

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

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