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

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

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

MSH3 polymorphisms and protein levels affect CAG repeat instability in Huntington's disease mice.

by Stéphanie Tomé, Kevin Manley, Jodie P Simard, Greg W Clark, Meghan M Slean, Meera Swami, Peggy F Shelbourne, Elisabeth R M Tillier, Darren G Monckton, Anne Messer, Christopher E Pearson
Published 2013-01-01