Geneviève Gourdon

Documents

Publications

	Treatment of myotonic dystrophy type 1 with CRISPR/Cas9 Paloma Navas-Navarro , Hélène Benyamine , Lucie Vezzana , Aline Huguet-Lachon , Geneviève Gourdon SFTCG, Mar 2024, Nantes (France), France Communication dans un congrès hal-04541390v1
	Overviews of mouse models for myotonic dystrophy Geneviève Gourdon Seminar, Target Laboratory, Nantes, Jun 2022, Nantes (visioconférence), France Communication dans un congrès hal-04007452v1
	Glial cell dysfunction in myotonic dystrophy brain disease Dm Dinca , So Braz , Louison Lallemant , A Gonzalez-Barriga , B Potier 12th Japanese-French Workshop: New insights in personalized medicine for neuromuscular diseases: From Basic to Applied Myology, Sep 2022, Giverny, France Communication dans un congrès hal-04004421v1
	Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 Laure de Pontual , Antoine Mangin , Sonia Lameiras , Bin Yang , Tina Alaeitabar FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada Communication dans un congrès hal-04004392v1
	Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 Laure de Pontual , Guillaume Diop , Sonia Lameiras , Tina Alaeitabar , Sylvain Baulande 19ème Journées de la Société Française de Myologie (JSFM), Nov 2022, Toulouse, France Communication dans un congrès hal-04004435v1
	Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 Laure de Pontual , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion International Myotonic Dystrophy consortium Meeting 13, Jun 2022, Osaka, Japan Communication dans un congrès hal-04004375v1
	Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing Yu-Chih Tsai , Laure de Pontual , Chéryl Heiner , Tanya Stojkovic , Denis Furling FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada Communication dans un congrès hal-04004408v1
	Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , T. Stojkovic , Denis Furling PacBio users 2022, May 2022, Paris, France Communication dans un congrès hal-04004337v1
	Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 Laure de Pontual , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion Expanded repeat disorders: from mechanisms to therapies, Jun 2021, Cardiff, United Kingdom Communication dans un congrès hal-04004162v1
	How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patient Stéphanie Tomé , Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil Expanded repeat disorders: from mechanisms to therapies, Jun 2021, Cardiff, United Kingdom Communication dans un congrès hal-04004237v1
	Identification de nouveaux facteurs de contractions CTG dans la DM1 Laure de Pontual , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion 18ème Journées de la Société Française de Myologie (JSFM), Nov 2021, Saint Etienne, France Communication dans un congrès hal-04004288v1
	Overviews of mouse models for myotonic dystrophy Geneviève Gourdon Seminar, Askbio, Dec 2021, Web Conference, United States Communication dans un congrès hal-04007474v1
	Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1 Laure de Pontual , Geneviève Gourdon , Stephanie Tome Société Française de Myologie (SFM), Jan 2021, Paris, France Communication dans un congrès hal-04003579v1
	Overviews of mouse models for myotonic dystrophy Geneviève Gourdon Seminar, Biogen, 2021, Web Conference, United States Communication dans un congrès hal-04007479v1
	Overviews of mouse models for myotonic dystrophy Geneviève Gourdon Seminar, Bayer AG, Jan 2021, Web Conference, Germany Communication dans un congrès hal-04007484v1
	How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients Stéphanie Tomé , Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil Neuroscience PacBio day 2020, Dec 2020, Paris, France Communication dans un congrès hal-04004354v1
	How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients Geneviève Gourdon , Stéphanie Tomé Seminar, PacBio Neuroscience day, Dec 2020, Web Conference, United States Communication dans un congrès hal-04007488v1
	Overview of the DMSXL mouse model of DM1: From DNA repair to phenotype Geneviève Gourdon Seminar, Institute of Biochemistry and Cell Biology, National Research Council, Sep 2019, Rome, Italy Communication dans un congrès hal-04007495v1
	Overview of DMSXL: pros & cons Geneviève Gourdon Myotonic Annual Conference, Oct 2019, Philadelphia, United States Communication dans un congrès hal-04003513v1
	DMSXL mice adults and neonatal features Geneviève Gourdon ENMC International Workshop on Myotonic Dystrophies, Oct 2019, Amsterdam, Netherlands Communication dans un congrès hal-04003520v1
	Real-time monitoring of brain cell models for neuromuscular and neurodegenerative disorders A Gonzalez-Barriga , D Dinca , So Braz , Geneviève Gourdon , Mário Gomes-Pereira Incucyte User Meeting, Nov 2019, Paris, France Communication dans un congrès hal-04003539v1
	Investigating oligodendrocyte dysfunction in DM1 brain disease So Braz , Aline Huguet-Lachon , C Chhuon , A Schmitt , C Guerrera 4th Congress of the Young Researchers of Imagine Institute, May 2018, Paris, France Communication dans un congrès hal-04003498v1
	Investigating oligodendrocyte dysfunction in DM1 brain disease So Braz , Aline Huguet-Lachon , C Chhuon , A Schmitt , C Guerrera International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri (IT), Italy Communication dans un congrès hal-04003486v1
	Investigating oligodendrocyte dysfunction in DM1 brain disease Sandra Braz , Diana Dinca , Aline Huguet-Lachon , Geneviève Gourdon , Mário Gomes-Pereira Imagine Young Researcher Seminars, Feb 2017, Paris, France Communication dans un congrès hal-04001598v1
	Investigating the mechanisms of brain disease in a mouse model of myotonic dystrophy Diana Dinca , Sandra Braz , Geneviève Gourdon , Mário Gomes-Pereira MDRU meeting, Mar 2017, Munich, Germany Communication dans un congrès hal-04001746v1
	CUG RNA toxicity in astrocytes is associated with adhesion and migration deficits and affects neuritogenesis D Dinca , G Sicot , Aline Huguet-Lachon , So Braz , C Chhuon International Myotonic Dystrophy consortium Meeting 11, Sep 2017, San Francisco (CA, USA), United States Communication dans un congrès hal-04003470v1
	Atypical Myotonic Dystrophy type 1 families and CTG repeat contractions E Dandelot , Stéphanie Tomé , C Dogan , Y Péréon , P Cintas Imagine Young Researcher Seminars, Mar 2017, Paris, France Communication dans un congrès hal-04001726v1
	Abnormal neuroglial interactions in myotonic dystrophy Diana Dinca , Géraldine Sicot , Aline Huguet-Lachon , Noémie Gueriba , Geneviève Gourdon  Young Researchers in Life Sciences, May 2017, Paris, France Communication dans un congrès hal-04001772v1
	DMSXL mouse model of myotonic dystrophy: past present and future Geneviève Gourdon Seminar, Centre de recherche en myologie, Mar 2017, Paris, France Communication dans un congrès hal-04007503v1

	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 NeuroFrance, May 2023, Lyon, France Poster de conférence 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 Poster de conférence 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 NeuroFrance, May 2023, Lyon, France Poster de conférence hal-04005556v1
	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 The European Meeting on Glial Cells in Health and Disease, Jul 2023, Berlin, France Poster de conférence hal-04005524v1
	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 Poster de conférence hal-04005531v1
	Nouvelle méthode de Séquençage à longue lecture dans la DM1: vers une caractérisation génotype-phénotype affinée Yu-Chih Tsai , Cheryl Heiner , Tanya Stojkovic , Denis Furling , Guillaume Bassez Conference E-Rare, Sep 2022, Paris, France Poster de conférence hal-04007021v1
	DM1 transgenic mice exhibit abnormal neurotransmitter homeostasis and synaptic plasticity in association with RNA mis-splicing in the hippocampus Brigitte Potier , Louison Lallemant , Sandrine Parrot , Aline Huguet-Lachon , Geneviève Gourdon 18th International Conference - Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France. , ⟨10.3390/ijms2302059⟩ Poster de conférence hal-04006990v1
	Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes Diana Mihaela Dincã , Louison Lallemant , Anchel González-Barriga , Noemie Cresto , Sandra Braz International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan Poster de conférence hal-04006873v1
	Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing. Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , Tanya Stojkovic , Denis Furling Myology 2022, Sep 2022, Nice, France Poster de conférence hal-04005603v1
	Application of CRISPR/Cas9 strategy for gene therapy of Myotonic Dystrophy type 1 Germana Falcone , Mariapaola Izzo , Beatrice Cardinali , Jonathan Battistini , Silvia Mandillo Myology, Sep 2022, Nice, France Poster de conférence hal-04009784v1
	Toxic RNA impairs synaptic function and vesicle transport in myotonic dystrophy type 1. Louison Lallemant , B Potier , Baptiste Grimaud , Sandra Braz , Diana Mihaela Dincã Mechanisms of Neuronal Connectivity Meeting, Sep 2022, New York (NY), France Poster de conférence hal-04005617v1
	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 Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France Poster de conférence hal-04006970v1
	Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing. Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , Tanya Stojkovic , Guillaume Bassez International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan Poster de conférence hal-04007014v1
	Apnées obstructives et mixtes chez le souriceau DMSXL, modèle de la forme congénitale de la maladie de Steinert Eléonore Sizun , Aline Huguet-Lachon , N. Ramanantsoa , Florence Cayetanot , Laurence Bodineau Journées de Recherche Respiratoire J2R, Oct 2022, Reims, France Poster de conférence hal-04009875v1
	Behavioural abnormalities in DMSXL mice, a model of Myotonic Dystrophy type 1 Elisabetta Golini , Tiziana Orsini , Mara Rigamonti , Mariapaola Izzo , Jonathan Battistini Federation of European Neuroscience Societies Forum 2022, Jul 2022, Paris, France Poster de conférence hal-04009698v1
	RNA toxicity in myotonic dystrophy causes pronounced spliceopathy in astrocytes, in association with defective cell adhesion and morphology, erratic migration and impaired polarization Diana Mihaela Dincã , Anchel González-Barriga , Sandra Braz , Laure-Elise Pillet , Noémie Cresto Cold Spring Harbor Laboratory Meeting on Glia in Health and Disease, Jul 2020, Cold Spring Harbor (New York), United States Poster de conférence hal-04009836v1
	How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients Stéphanie Tomé , Janet Ziegle , Yu-Chih Tsai , John Harting , Jean-Paul Bonnefont European Society of Human Genetics Annual Meeting, Jun 2020, Online, France Poster de conférence hal-04009915v1
	Refinement of the DMSXL mouse phenotype Aline Huguet-Lachon , Hélène Benyamine , Noémie Gueriba , Pierre David , Elodie Dandelot International Myotonic Dystrophy Consortium Meeting, Jun 2019, Gothenburg, Sweden Poster de conférence hal-04010043v1
	Toxic RNA affects astrocyte adhesion, spreading and migration in myotonic dystrophy, and impacts neuritogenesis through abnormal glial-neuronal interactions Diana Mihaela Dincã , Anchel González-Barriga , Sandra Braz , Cyril F Bourgeois , Géraldine Sicot The European Meeting on Glial Cells in Health and Disease, Jul 2019, Porto, Portugal Poster de conférence hal-04009975v1
	In vivo genome editing mediates resection of the CTG repeat expansion and decreases pathological signs in a mouse model of myotonic dystrophy type 1 Mirella Lo Scrutado , Karine Poulard , C. Sourd , Stéphanie Tomé , Arnaud F Klein 6th International Congress of Myology, Mar 2019, Bordeaux, France Poster de conférence hal-04020115v1
	Investigating oligodendrocyte dysfunction in DM1 brain disease Sandra Braz , Raphael Blain , Cyril F Bourgeois , Aline Huguet-Lachon , Alain Schmitt The European Meeting on Glial Cells in Health and Disease, Jul 2019, Porto, Portugal Poster de conférence hal-04010005v1
	Glutamate dysfunction at extrasynaptic site in hippocampus of mice model of myotonic dystrophy type 1 (DM1) disease B Potier , Aline Huguet-Lachon , Geneviève Gourdon , Mário Gomes-Pereira , Patrick Dutar NeuroFrance, May 2019, Marseille, France Poster de conférence hal-04009926v1
	Combination of Omics Approaches to Study Molecular Abnormalities in Individual Brain Cell Types of a DM1 Mouse Model Anchel González-Barriga , Diana Mihaela Dincã , Sandra Braz , Aurélien Cordier , Cerina Chhuon International Myotonic Dystrophy Consortium Meeting (IDMC-12), Jun 2019, Gothenburg, Sweden. Poster de conférence hal-04009963v1
	Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism Stéphanie Tomé , Elodie Dandelot , Céline Guiraud-Dogan , Alexis Bertrand , David Geneviève International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy Poster de conférence hal-04010176v1
	Analyze the role of interruptions in triplet nucleotide repeats diseases: cellular model strategy and Flash-Small-Pool-PCR Elodie Dandelot , Stéphanie Tomé , Geneviève Gourdon International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy Poster de conférence hal-04010160v1
	Atypical Myotonic Dystrophy type 1 families and CTG repeats interruptions Elodie Dandelot , Stéphanie Tomé , Céline Guiraud-Dogan , Yann Péréon , Pascal Cintas Young Researchers of Imagine Institute, May 2018, Paris, France Poster de conférence hal-04010074v1
	Upregulation of glial GLT1 glutamate transporter corrects Purkinje cell dysfunction and cerebellum-dependent motor incoordination in a mouse model of myotonic dystrophy Diana Mihaela Dincã , Laurent Servais , Géraldine Sicot , Axelle Leroy , Cynthia Prigogine SAB Meeting, Apr 2017, Paris, France Poster de conférence hal-04010282v1
	A novel gene editing-based strategy for type 1 myotonic dystrophy Mirella Lo Scrudato , Karine Poulard , Arnaud F Klein , Stéphanie Tomé , Geneviève Gourdon Annual Congress of the  World Muscle Society, Oct 2017, Saint Malo, France Poster de conférence hal-04010235v1
	Impact of the CTG repeat expansion on neuronal and astroglial physiology in myotonic dystrophy Diana Mihaela Dincã , Géraldine Sicot , Aline Huguet-Lachon , Noémie Gueriba , Geneviève Gourdon Colloque des Jeunes Chercheurs, Jun 2017, Paris, France Poster de conférence hal-04010254v1
	A single CAG or multiple CCG interruptions within the 5’ end of CTG repeat expansions are associated with contractions across generations and stabilization of the repeat in blood Stéphanie Tomé , Elodie Dandelot , Céline Guiraud-Dogan , David Geneviève , Yann Péréon International Myotonic Dystrophy Consortium Meeting, Sep 2017, San Francisco, United States Poster de conférence hal-04010211v1

	Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy Maggie Lutz , Miranda Levanti , Rebekah Karns , Genevieve Gourdon , Diana Lindquist International Journal of Molecular Sciences, 2023, 24 (13), pp.10650. ⟨10.3390/ijms241310650⟩ Article dans une revue hal-04259888v1
	Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the DMPK gene Beatrice Cardinali , Claudia Provenzano , Mariapaola Izzo , Christine Voellenkle , Jonathan Battistini Molecular Therapy - Nucleic Acids, 2022, 27, pp.184-199. ⟨10.1016/j.omtn.2021.11.024⟩ Article dans une revue hal-03511841v1
	Identification of a CCG-enriched expanded allele in patients with myotonic dystrophy type 1 using amplification-free long-read sequencing Yu-Chih Tsai , Laure de Pontual , Cheryl Heiner , Tanya Stojkovic , Denis Furling Journal of Molecular Diagnostics, inPress, ⟨10.1016/j.jmoldx.2022.08.003⟩ Article dans une revue hal-03832574v1
	Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1 Siham Ait Benichou , Dominic Jauvin , Thiéry de Serres-Bérard , Frank Bennett , Frank Rigo Human Gene Therapy, 2022, 33 (15-16), pp.810-820. ⟨10.1089/hum.2022.069⟩ Article dans une revue hal-03753318v1
	DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus Brigitte Potier , Louison Lallemant , Sandrine Parrot , Aline Huguet-Lachon , Geneviève Gourdon International Journal of Molecular Sciences, 2022, 23 (2), pp.592. ⟨10.3390/ijms23020592⟩ Article dans une revue hal-03542361v1
	Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood Remco T P van Cruchten , Daniël van As , Jeffrey C Glennon , Baziel G M van Engelen , K Okkersen BMC Medicine, 2022, 20 (1), pp.395. ⟨10.1186/s12916-022-02591-y⟩ Article dans une revue hal-03848010v1
	Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes Diana Dincã , Louison Lallemant , Anchel González-Barriga , Noémie Cresto , Sandra Braz Nature Communications, 2022, 13 (1), pp.3841. ⟨10.1038/s41467-022-31594-9⟩ Article dans une revue hal-03715682v1
	miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1 Demetris Koutalianos , Andrie Koutsoulidou , Chrystalla Mytidou , Andrea C Kakouri , Anastasis Oulas Molecular Therapy - Methods and Clinical Development, 2021, 23, pp.169 - 183. ⟨10.1016/j.omtm.2021.09.007⟩ Article dans une revue hal-03753545v1
	Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1 Laure de Pontual , Geneviève Gourdon , Stéphanie Tomé Médecine/Sciences, 2021, 37, pp.6 - 10. ⟨10.1051/medsci/2021182⟩ Article dans une revue hal-03753522v1
	Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis Sandrine Parrot , Alex Corscadden , Louison Lallemant , Hélène Benyamine , Jean-Christophe Comte ACS Chemical Neuroscience, 2021, 13 (1), pp.134 - 142. ⟨10.1021/acschemneuro.1c00634⟩ Article dans une revue hal-03753548v1
	Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1 Antoine Mangin , Laure de Pontual , Yu-Chih Tsai , Laetitia Monteil , Mathilde Nizon International Journal of Molecular Sciences, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩ Article dans une revue hal-03173835v1
	Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1 Anchel González-Barriga , Louison Lallemant , Diana M Dincã , Sandra O Braz , Hélène Polvèche Frontiers in Cellular Neuroscience, 2021, 15, pp.662035. ⟨10.3389/fncel.2021.662035⟩ Article dans une revue hal-03235993v1
	DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies Stéphanie Tomé , Geneviève Gourdon International Journal of Molecular Sciences, 2020, 21 (2), pp.457. ⟨10.3390/ijms21020457⟩ Article dans une revue hal-03753561v1
	Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice Arnaud F Klein , Miguel A Varela , Ludovic Arandel , Ashling Holland , Naira Naouar Journal of Clinical Investigation, 2019, 129 (11), pp.4739 - 4744. ⟨10.1172/jci128205⟩ Article dans une revue hal-03753531v1
	Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice Mirella Lo Scrudato , Karine Poulard , Célia Sourd , Stéphanie Tomé , Arnaud Klein Molecular Therapy, 2019, Epub ahead of print. ⟨10.1016/j.ymthe.2019.05.021⟩ Article dans une revue hal-02177548v1
	Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1 Emilie Auxerre-Plantié , Masayuki Nakamori , Yoan Renaud , Aline Huguet , Caroline Choquet eLife, 2019, 8, pp.e51114. ⟨10.7554/eLife.51114⟩ Article dans une revue hal-02427104v1
	Real Time Videomicroscopy and Semiautomated Analysis of Brain Cell Culture Models of Trinucleotide Repeat Expansion Diseases Sandra O Braz , Diana M Dinca , Geneviève Gourdon , Mário Gomes-Pereira Methods in Molecular Biology, 2019, Trinucleotide Repeats. Methods and Protocols, 2056, pp.217 - 240. ⟨10.1007/978-1-4939-9784-8_14⟩ Article dans une revue hal-03753559v1
	Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy Sandra O Braz , Julien Acquaire , Geneviève Gourdon , Mário Gomes-Pereira Frontiers in Neurology, 2018, 9, ⟨10.3389/fneur.2018.00519⟩ Article dans une revue hal-03753310v1
	The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR Elodie Dandelot , Geneviève Gourdon Biotechniques, 2018, 64 (6), pp.262 - 265. ⟨10.2144/btn-2018-0035⟩ Article dans une revue hal-03753523v1
	Unusual association of a unique CAG interruption in 5′ of DM1 CTG repeats with intergenerational contractions and low somatic mosaicism Stéphanie Tomé , Elodie Dandelot , Celine Dogan , Alexis Bertrand , David Geneviève Human Mutation, 2018, 39 (7), pp.970 - 982. ⟨10.1002/humu.23531⟩ Article dans une revue hal-01870349v1
	Targeting DMPK with antisense oligonucleotide improves muscle strength in myotonic dystrophy type 1 mice Dominic Jauvin , Jessina Chrétien , Sanjay Pandey , Laurie Martineau , Lucille Revillod Molecular Therapy - Nucleic Acids, 2017, 7, pp.465-474. ⟨10.1016/j.omtn.2017.05.007⟩ Article dans une revue hal-03832497v1
	Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy Géraldine Sicot , Laurent Servais , Diana Dinca , Axelle M Leroy , Cynthia Prigogine Cell Reports, 2017, 19 (13), pp.2718-2729. ⟨10.1016/j.celrep.2017.06.006⟩ Article dans une revue hal-03164812v1
	CRISPR/Cas9-Induced (CTG⋅CAG)n Repeat Instability in the Myotonic Dystrophy Type 1 Locus: Implications for Therapeutic Genome Editing Ellen L. van Agtmaal , Laurène M. André , Marieke Willemse , Sarah A. Cumming , Ingeborg D.G. van Kessel Molecular Therapy, 2017, 25 (1), pp.24 - 43. ⟨10.1016/j.ymthe.2016.10.014⟩ Article dans une revue hal-01429815v1
	Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy S. Mulders , W. van den Broek , T. Wheeler , H. Croes , P. van Kuik-Romeijn Proceedings of the National Academy of Sciences of the United States of America, 2009, 106 (33), pp.13915-13920. ⟨10.1073/pnas.0905780106⟩ Article dans une revue hal-03173848v1

	Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes Diana Dincã , Anchel González-Barriga , Geraldine Sicot , Louison Lallemant , Laure-Elise Pillet 2022 Pré-publication, Document de travail hal-03863376v1

Geneviève Gourdon

Publications

Treatment of myotonic dystrophy type 1 with CRISPR/Cas9

Overviews of mouse models for myotonic dystrophy

Glial cell dysfunction in myotonic dystrophy brain disease

Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1

Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1

Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing

Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1

How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patient

Identification de nouveaux facteurs de contractions CTG dans la DM1

Overviews of mouse models for myotonic dystrophy

Identification of CTG.CAG contraction factors in Myotonic Dystrophy type 1

Overviews of mouse models for myotonic dystrophy

Overviews of mouse models for myotonic dystrophy

How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients

How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients

Overview of the DMSXL mouse model of DM1: From DNA repair to phenotype

Overview of DMSXL: pros & cons

DMSXL mice adults and neonatal features

Real-time monitoring of brain cell models for neuromuscular and neurodegenerative disorders

Investigating oligodendrocyte dysfunction in DM1 brain disease

Investigating oligodendrocyte dysfunction in DM1 brain disease

Investigating oligodendrocyte dysfunction in DM1 brain disease

Investigating the mechanisms of brain disease in a mouse model of myotonic dystrophy

CUG RNA toxicity in astrocytes is associated with adhesion and migration deficits and affects neuritogenesis

Atypical Myotonic Dystrophy type 1 families and CTG repeat contractions

Abnormal neuroglial interactions in myotonic dystrophy

DMSXL mouse model of myotonic dystrophy: past present and future

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

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

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

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

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

Nouvelle méthode de Séquençage à longue lecture dans la DM1: vers une caractérisation génotype-phénotype affinée

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

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.

Application of CRISPR/Cas9 strategy for gene therapy of Myotonic Dystrophy type 1

Toxic RNA impairs synaptic function and vesicle transport in myotonic dystrophy type 1.

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

Identification of a CCG-enriched expanded allele in DM1 patients using Amplification-free long-read sequencing.

Apnées obstructives et mixtes chez le souriceau DMSXL, modèle de la forme congénitale de la maladie de Steinert

Behavioural abnormalities in DMSXL mice, a model of Myotonic Dystrophy type 1

RNA toxicity in myotonic dystrophy causes pronounced spliceopathy in astrocytes, in association with defective cell adhesion and morphology, erratic migration and impaired polarization

How SMRT sequencing can improve the prognosis and genetic counseling in DM1 patients

Refinement of the DMSXL mouse phenotype

Toxic RNA affects astrocyte adhesion, spreading and migration in myotonic dystrophy, and impacts neuritogenesis through abnormal glial-neuronal interactions

In vivo genome editing mediates resection of the CTG repeat expansion and decreases pathological signs in a mouse model of myotonic dystrophy type 1

Investigating oligodendrocyte dysfunction in DM1 brain disease

Glutamate dysfunction at extrasynaptic site in hippocampus of mice model of myotonic dystrophy type 1 (DM1) disease

Combination of Omics Approaches to Study Molecular Abnormalities in Individual Brain Cell Types of a DM1 Mouse Model

Unusual association of an unique CAG interruption in 5’ of DM1 CTG repeats with intergenerational contraction and low somatic mosaicism

Analyze the role of interruptions in triplet nucleotide repeats diseases: cellular model strategy and Flash-Small-Pool-PCR

Atypical Myotonic Dystrophy type 1 families and CTG repeats interruptions

Upregulation of glial GLT1 glutamate transporter corrects Purkinje cell dysfunction and cerebellum-dependent motor incoordination in a mouse model of myotonic dystrophy

A novel gene editing-based strategy for type 1 myotonic dystrophy

Impact of the CTG repeat expansion on neuronal and astroglial physiology in myotonic dystrophy

A single CAG or multiple CCG interruptions within the 5’ end of CTG repeat expansions are associated with contractions across generations and stabilization of the repeat in blood

Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy

Time-controlled and muscle-specific CRISPR/Cas9-mediated deletion of CTG-repeat expansion in the DMPK gene

Identification of a CCG-enriched expanded allele in patients with myotonic dystrophy type 1 using amplification-free long-read sequencing

Enhanced Delivery of Ligand-Conjugated Antisense Oligonucleotides (C16-HA-ASO) Targeting Dystrophia Myotonica Protein Kinase Transcripts for the Treatment of Myotonic Dystrophy Type 1

DM1 Transgenic Mice Exhibit Abnormal Neurotransmitter Homeostasis and Synaptic Plasticity in Association with RNA Foci and Mis-Splicing in the Hippocampus

Clinical improvement of DM1 patients reflected by reversal of disease-induced gene expression in blood

Myotonic dystrophy RNA toxicity alters morphology, adhesion and migration of mouse and human astrocytes

miR-223-3p and miR-24-3p as novel serum-based biomarkers for myotonic dystrophy type 1

Identification of new factors inducing CTG.CAG repeat contractions in Myotonic Dystrophy type 1

Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled In Vivo by a Two-in-One Quantitative Microdialysis

Robust Detection of Somatic Mosaicism and Repeat Interruptions by Long-Read Targeted Sequencing in Myotonic Dystrophy Type 1

Integrative Cell Type-Specific Multi-Omics Approaches Reveal Impaired Programs of Glial Cell Differentiation in Mouse Culture Models of DM1

DM1 Phenotype Variability and Triplet Repeat Instability: Challenges in the Development of New Therapies

Peptide-conjugated oligonucleotides evoke long-lasting myotonic dystrophy correction in patient-derived cells and mice

Genome Editing of Expanded CTG Repeats within the Human DMPK Gene Reduces Nuclear RNA Foci in the Muscle of DM1 Mice

Straightjacket/α2δ3 deregulation is associated with cardiac conduction defects in myotonic dystrophy type 1

Real Time Videomicroscopy and Semiautomated Analysis of Brain Cell Culture Models of Trinucleotide Repeat Expansion Diseases

Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy

The flash-small-pool PCR: how to transform blotting and numerous hybridization steps into a simple denatured PCR