|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Caveolae and Bin1 form ring-shaped platforms for T-tubule initiation
Eline Lemerle
,
Jeanne Lainé
,
Marion Benoist
,
Gilles Moulay
,
Anne Bigot
et al.
Journal articles
hal-04094370v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
TOR1AIP1-Associated Nuclear Envelopathies
Laurane Mackels
,
Xincheng Liu
,
Gisèle Bonne
,
Laurent Servais
Journal articles
hal-04066690v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Conference papers
hal-04086695v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
Journal articles
hal-04086238v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Présentation des actions Recherche de la Filière en Santé Maladies Rares Neuromusculaires - FILNEMUS
Gisèle Bonne
2023
Videos
hal-04000635v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03992575v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-04014082v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
hal-03972888v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
The 2023 version of the gene table of neuromuscular disorders (nuclear genome)
Louise Benarroch
,
Gisèle Bonne
,
Francois Rivier
,
Dalil Hamroun
Journal articles
hal-03964998v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
Skeletal Muscle
Bruno Cadot
,
Edgar Gomes
Book sections
hal-03938492v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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.
Journal articles
pasteur-03927224v1
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|
|
|
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
|
Share
Gmail
Facebook
Twitter
LinkedIn
More
|