Myotonic Dystrophies: State of the Art of New Therapeutic Developments for the CNS

by Genevieve Gourdon, Genevieve Gourdon, Giovanni Meola
Published 2017-04-01

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

by Stéphanie Tomé, Geneviève Gourdon
Published 2020-01-01

Sense and Antisense DMPK RNA Foci Accumulate in DM1 Tissues during Development.

by Lise Michel, Aline Huguet-Lachon, Geneviève Gourdon
Published 2015-01-01

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

by Sandra O. Braz, Sandra O. Braz, Julien Acquaire, Julien Acquaire, Geneviève Gourdon, Geneviève Gourdon, Mário Gomes-Pereira, Mário Gomes-Pereira
Published 2018-07-01

Transcriptionally Repressive Chromatin Remodelling and CpG Methylation in the Presence of Expanded CTG-Repeats at the DM1 Locus

by Judith Rixt Brouwer, Aline Huguet, Annie Nicole, Arnold Munnich, Geneviève Gourdon
Published 2013-01-01

Functional and histopathological identification of the respiratory failure in a DMSXL transgenic mouse model of myotonic dystrophy

by Petrica-Adrian Panaite, Thierry Kuntzer, Geneviève Gourdon, Johannes Alexander Lobrinus, Ibtissam Barakat-Walter
Published 2013-05-01

CTG trinucleotide repeat "big jumps": large expansions, small mice.

by Mário Gomes-Pereira, Laurent Foiry, Annie Nicole, Aline Huguet, Claudine Junien, Arnold Munnich, Geneviève Gourdon
Published 2007-04-01

MSH2 ATPase domain mutation affects CTG*CAG repeat instability in transgenic mice.

by Stéphanie Tomé, Ian Holt, Winfried Edelmann, Glenn E Morris, Arnold Munnich, Christopher E Pearson, Geneviève Gourdon
Published 2009-05-01

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

by Antoine Mangin, Laure de Pontual, Yu-Chih Tsai, Laetitia Monteil, Mathilde Nizon, Pierre Boisseau, Sandra Mercier, Janet Ziegle, John Harting, Cheryl Heiner, Geneviève Gourdon, Stéphanie Tomé
Published 2021-03-01

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

by Emilie Auxerre-Plantié, Masayuki Nakamori, Yoan Renaud, Aline Huguet, Caroline Choquet, Cristiana Dondi, Lucile Miquerol, Masanori P Takahashi, Geneviève Gourdon, Guillaume Junion, Teresa Jagla, Monika Zmojdzian, Krzysztof Jagla
Published 2019-12-01

RBFOX1 cooperates with MBNL1 to control splicing in muscle, including events altered in myotonic dystrophy type 1.

by Roscoe Klinck, Angélique Fourrier, Philippe Thibault, Johanne Toutant, Mathieu Durand, Elvy Lapointe, Marie-Laure Caillet-Boudin, Nicolas Sergeant, Geneviève Gourdon, Giovanni Meola, Denis Furling, Jack Puymirat, Benoit Chabot
Published 2014-01-01

Targeting DMPK with Antisense Oligonucleotide Improves Muscle Strength in Myotonic Dystrophy Type 1 Mice

by Dominic Jauvin, Jessina Chrétien, Sanjay K. Pandey, Laurie Martineau, Lucille Revillod, Guillaume Bassez, Aline Lachon, A. Robert McLeod, Geneviève Gourdon, Thurman M. Wheeler, Charles A. Thornton, C. Frank Bennett, Jack Puymirat
Published 2017-06-01

Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.

by Aline Huguet, Fadia Medja, Annie Nicole, Alban Vignaud, Céline Guiraud-Dogan, Arnaud Ferry, Valérie Decostre, Jean-Yves Hogrel, Friedrich Metzger, Andreas Hoeflich, Martin Baraibar, Mário Gomes-Pereira, Jack Puymirat, Guillaume Bassez, Denis Furling, Arnold Munnich, Geneviève Gourdon
Published 2012-01-01

Downregulation of the Glial GLT1 Glutamate Transporter and Purkinje Cell Dysfunction in a Mouse Model of Myotonic Dystrophy

by Géraldine Sicot, Laurent Servais, Diana M. Dinca, Axelle Leroy, Cynthia Prigogine, Fadia Medja, Sandra O. Braz, Aline Huguet-Lachon, Cerina Chhuon, Annie Nicole, Noëmy Gueriba, Ruan Oliveira, Bernard Dan, Denis Furling, Maurice S. Swanson, Ida Chiara Guerrera, Guy Cheron, Geneviève Gourdon, Mário Gomes-Pereira
Published 2017-06-01

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

by Anchel González-Barriga, Louison Lallemant, Diana M. Dincã, Sandra O. Braz, Sandra O. Braz, Hélène Polvèche, Hélène Polvèche, Paul Magneron, Cédric Pionneau, Aline Huguet-Lachon, Jean-Baptiste Claude, Cerina Chhuon, Ida Chiara Guerrera, Cyril F. Bourgeois, Didier Auboeuf, Geneviève Gourdon, Mário Gomes-Pereira
Published 2021-05-01

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

by Demetris Koutalianos, Andrie Koutsoulidou, Chrystalla Mytidou, Andrea C. Kakouri, Anastasis Oulas, Marios Tomazou, Tassos C. Kyriakides, Marianna Prokopi, Konstantinos Kapnisis, Nikoletta Nikolenko, Chris Turner, Anna Lusakowska, Katarzyna Janiszewska, George K. Papadimas, Constantinos Papadopoulos, Evangelia Kararizou, George M. Spyrou, Geneviève Gourdon, Eleni Zamba Papanicolaou, Grainne Gorman, Andreas Anayiotos, Hanns Lochmüller, Leonidas A. Phylactou
Published 2021-12-01