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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 articles
hal-03972909v1
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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
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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
Journal articles
hal-04223851v1
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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.
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
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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
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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
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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
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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
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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
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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
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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
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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
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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
,
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
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DNA damage repair in LMNA-related congenital muscular dystrophy
Marine Leconte
,
Anne Bertrand
,
Zoheir Guesmia
,
Gisèle Bonne
,
Gisèle Bonne
Conference papers
hal-04189722v1
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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.
Conference papers
hal-04189730v1
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Quantification of skeletal muscle strength in laminopathies
Valérie Decostre
,
Cathy Chikhaoui
,
Corinne Vigouroux
,
Susana Quijano-Roy
,
Karim Wahbi
,
et al.
Conference papers
hal-04189561v1
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Challenges in gene therapy for striated muscle laminopathy
Anne T Bertrand
,
Mariko Okubo
,
Astrid Brull
,
Maud Beuvin
,
Nathalie Mougenot
,
et al.
Conference papers
hal-04170075v1
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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.
Conference papers
hal-04189567v1
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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.
Conference papers
hal-04189725v1
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Gene therapy for striated muscle laminopathy (in vivo study)
Mariko Okubo
,
Maud Beuvin
,
Astrid Brull
,
Nathalie Mougenot
,
Valérie Paradis
,
et al.
Conference papers
hal-04189734v1
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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.
Conference papers
hal-04189588v1
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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.
Conference papers
hal-04189728v1
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Recent insights in the pathophysiological mechanisms of striated muscle laminopathies
Rabah Ben Yaou
,
Louise Benarroch
,
Marine Leconte
,
Maud Beuvin
,
Isabelle Nelson
,
et al.
Conference papers
hal-04189555v1
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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.
Conference papers
hal-04189720v1
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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
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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
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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
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