Geneviève Gourdon

86
Documents

Publications

Publications

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CaVβ1A and CaVβ1E embryonic isoforms in adult skeletal muscle, a Mbnl1 related-expression

Amélie Vergnol , Alain Sureau , Eric Batsché , Eric Allemand , Massiré Traoré et al.

Myology 2024, Apr 2024, Paris, France

Poster de conférence hal-04782481v1

Treatment of myotonic dystrophy type 1 with CRISPR/Cas9

Paloma Navas-Navarro , Hélène Benyamine , Lucie Vezzana , Aline Huguet-Lachon , Geneviève Gourdon et al.

Myology 2024, Apr 2024, Paris, France

Poster de conférence hal-04567285v1

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

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

Poster de conférence hal-04005564v1

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

Poster de conférence hal-04005556v1

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

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

Poster de conférence hal-04005524v1

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 et al.

International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan

Poster de conférence hal-04007014v1

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

Elisabetta Golini , Tiziana Orsini , Mara Rigamonti , Mariapaola Izzo , Jonathan Battistini et al.

Federation of European Neuroscience Societies Forum 2022, Jul 2022, Paris, France

Poster de conférence hal-04009698v1

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 et al.

Journées de Recherche Respiratoire J2R, Oct 2022, Reims, France

Poster de conférence hal-04009875v1

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 et al.

International Myotonic Dystrophy Consortium Meeting, Jun 2022, Osaka, Japan

Poster de conférence hal-04006873v1

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.

Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France

Poster de conférence hal-04006970v1

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

Louison Lallemant , B Potier , Baptiste Grimaud , Sandra Braz , Diana Mihaela Dincã et al.

Mechanisms of Neuronal Connectivity Meeting, Sep 2022, New York (NY), France

Poster de conférence hal-04005617v1

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 et al.

Conference E-Rare, Sep 2022, Paris, France

Poster de conférence hal-04007021v1
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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 et al.

18th International Conference - Monitoring Molecules in Neuroscience, Jun 2022, Lyon, France. , ⟨10.3390/ijms2302059⟩

Poster de conférence hal-04006990v1

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 et al.

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 et al.

Myology, Sep 2022, Nice, France

Poster de conférence hal-04009784v1

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 et al.

European Society of Human Genetics Annual Meeting, Jun 2020, Online, France

Poster de conférence hal-04009915v1

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 et al.

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

Refinement of the DMSXL mouse phenotype

Aline Huguet-Lachon , Hélène Benyamine , Noémie Gueriba , Pierre David , Elodie Dandelot et al.

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 et al.

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 et al.

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 et al.

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 et al.

International Myotonic Dystrophy Consortium Meeting (IDMC-12), Jun 2019, Gothenburg, Sweden.

Poster de conférence hal-04009963v1

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 et al.

Young Researchers of Imagine Institute, May 2018, Paris, France

Poster de conférence hal-04010074v1

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 et al.

International Conference on Unstable Microsatellites and Human Disease, Apr 2018, Capri, Italy

Poster de conférence hal-04010176v1

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 et al.

International Myotonic Dystrophy Consortium Meeting, Sep 2017, San Francisco, United States

Poster de conférence hal-04010211v1

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 et al.

Colloque des Jeunes Chercheurs, Jun 2017, Paris, France

Poster de conférence hal-04010254v1

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 et al.

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 et al.

Annual Congress of the
 World Muscle Society, Oct 2017, Saint Malo, France

Poster de conférence hal-04010235v1

Treatment of myotonic dystrophy type 1 with CRISPR/Cas9

Paloma Navas-Navarro , Hélène Benyamine , Lucie Vezzana , Aline Huguet-Lachon , Geneviève Gourdon et al.

SFTCG, Mar 2024, Nantes (France), France

Communication dans un congrès hal-04541390v1

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

Laure de Pontual , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion et al.

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 , Cheryl Heiner , T. Stojkovic , Denis Furling et al.

PacBio users 2022, May 2022, Paris, France

Communication dans un congrès hal-04004337v1

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 et al.

FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada

Communication dans un congrès hal-04004408v1

Glial cell dysfunction in myotonic dystrophy brain disease

Dm Dinca , So Braz , Louison Lallemant , A Gonzalez-Barriga , B Potier et al.

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

Overviews of mouse models for myotonic dystrophy

Geneviève Gourdon

Seminar, Target Laboratory, Nantes, Jun 2022, Nantes (visioconférence), France

Communication dans un congrès hal-04007452v1

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

Laure de Pontual , Guillaume Diop , Sonia Lameiras , Tina Alaeitabar , Sylvain Baulande et al.

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 , Sonia Lameiras , Bin Yang , Tina Alaeitabar et al.

FASEB, The dynamic DNA structures in biology conference, Jun 2022, Nova Scotia, Canada

Communication dans un congrès hal-04004392v1

Overviews of mouse models for myotonic dystrophy

Geneviève Gourdon

Seminar, Bayer AG, Jan 2021, Web Conference, Germany

Communication dans un congrès hal-04007484v1

Overviews of mouse models for myotonic dystrophy

Geneviève Gourdon

Seminar, Biogen, 2021, Web Conference, United States

Communication dans un congrès hal-04007479v1

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

Identification de nouveaux facteurs de contractions CTG dans la DM1

Laure de Pontual , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion et al.

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 , Antoine Mangin , Bin Yang , Geneviève Gourdon , Vincent Dion et al.

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 et al.

Expanded repeat disorders: from mechanisms to therapies, Jun 2021, Cardiff, United Kingdom

Communication dans un congrès hal-04004237v1

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

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 et al.

Neuroscience PacBio day 2020, Dec 2020, Paris, France

Communication dans un congrès hal-04004354v1

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

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

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 et al.

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

So Braz , Aline Huguet-Lachon , C Chhuon , A Schmitt , C Guerrera et al.

4th Congress of the Young Researchers of Imagine Institute, May 2018, Paris, France

Communication dans un congrès hal-04003498v1

Abnormal neuroglial interactions in myotonic dystrophy

Diana Dinca , Géraldine Sicot , Aline Huguet-Lachon , Noémie Gueriba , Geneviève Gourdon et al.

 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

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 et al.

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 et al.

Imagine Young Researcher Seminars, Mar 2017, Paris, France

Communication dans un congrès hal-04001726v1
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Therapeutic Targeting of the GSK3β-CUGBP1 Pathway in Myotonic Dystrophy

Maggie Lutz , Miranda Levanti , Rebekah Karns , Genevieve Gourdon , Diana Lindquist et al.

International Journal of Molecular Sciences, 2023, 24 (13), pp.10650. ⟨10.3390/ijms241310650⟩

Article dans une revue hal-04259888v1
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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 et al.

Nature Communications, 2022, 13 (1), pp.3841. ⟨10.1038/s41467-022-31594-9⟩

Article dans une revue hal-03715682v1
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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 et al.

Molecular Therapy - Nucleic Acids, 2022, 27, pp.184-199. ⟨10.1016/j.omtn.2021.11.024⟩

Article dans une revue hal-03511841v1
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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 et al.

Journal of Molecular Diagnostics, In press, ⟨10.1016/j.jmoldx.2022.08.003⟩

Article dans une revue hal-03832574v1
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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 et al.

BMC Medicine, 2022, 20 (1), pp.395. ⟨10.1186/s12916-022-02591-y⟩

Article dans une revue hal-03848010v1
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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 et al.

International Journal of Molecular Sciences, 2022, 23 (2), pp.592. ⟨10.3390/ijms23020592⟩

Article dans une revue hal-03542361v1
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Defects in Mouse Cortical Glutamate Uptake Can Be Unveiled <i>In Vivo</i> by a Two-in-One Quantitative Microdialysis

Sandrine Parrot , Alex Corscadden , Louison Lallemant , Hélène Benyamine , Jean-Christophe Comte et al.

ACS Chemical Neuroscience, 2022, 13 (1), pp.134 - 142. ⟨10.1021/acschemneuro.1c00634⟩

Article dans une revue hal-03753548v1

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 et al.

Human Gene Therapy, 2022, 33 (15-16), pp.810-820. ⟨10.1089/hum.2022.069⟩

Article dans une revue hal-03753318v1
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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 et al.

International Journal of Molecular Sciences, 2021, 22 (5), pp.2616. ⟨10.3390/ijms22052616⟩

Article dans une revue hal-03173835v1
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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 et al.

Frontiers in Cellular Neuroscience, 2021, 15, pp.662035. ⟨10.3389/fncel.2021.662035⟩

Article dans une revue hal-03235993v1
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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
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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 et al.

Molecular Therapy - Methods and Clinical Development, 2021, 23, pp.169 - 183. ⟨10.1016/j.omtm.2021.09.007⟩

Article dans une revue hal-03753545v1
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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
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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
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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 et al.

eLife, 2019, 8, pp.e51114. ⟨10.7554/eLife.51114⟩

Article dans une revue hal-02427104v1
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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 et al.

Journal of Clinical Investigation, 2019, 129 (11), pp.4739 - 4744. ⟨10.1172/jci128205⟩

Article dans une revue hal-03753531v1
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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 et al.

Molecular Therapy, 2019, Epub ahead of print. ⟨10.1016/j.ymthe.2019.05.021⟩

Article dans une revue hal-02177548v1

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 et al.

Human Mutation, 2018, 39 (7), pp.970 - 982. ⟨10.1002/humu.23531⟩

Article dans une revue hal-01870349v1
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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
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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
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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 et al.

Molecular Therapy, 2017, 25 (1), pp.24 - 43. ⟨10.1016/j.ymthe.2016.10.014⟩

Article dans une revue hal-01429815v1
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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 et al.

Cell Reports, 2017, 19 (13), pp.2718-2729. ⟨10.1016/j.celrep.2017.06.006⟩

Article dans une revue hal-03164812v1
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Targeting DMPK with antisense oligonucleotide improves muscle strength in myotonic dystrophy type 1 mice

Dominic Jauvin , Jessina Chrétien , Sanjay Pandey , Laurie Martineau , Lucille Revillod et al.

Molecular Therapy - Nucleic Acids, 2017, 7, pp.465-474. ⟨10.1016/j.omtn.2017.05.007⟩

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