Non-ATG–initiated translation directed by microsatellite expansions T Zu, B Gibbens, NS Doty, M Gomes-Pereira, A Huguet, MD Stone, ... Proceedings of the National Academy of Sciences 108 (1), 260-265, 2011 | 984 | 2011 |
Muscleblind-like 2-mediated alternative splicing in the developing brain and dysregulation in myotonic dystrophy K Charizanis, KY Lee, R Batra, M Goodwin, C Zhang, Y Yuan, L Shiue, ... Neuron 75 (3), 437-450, 2012 | 381 | 2012 |
Pms2 is a genetic enhancer of trinucleotide CAG·CTG repeat somatic mosaicism: implications for the mechanism of triplet repeat expansion M Gomes-Pereira, MT Fortune, L Ingram, JP McAbney, DG Monckton Human molecular genetics 13 (16), 1815-1825, 2004 | 224 | 2004 |
CTG trinucleotide repeat “big jumps”: large expansions, small mice M Gomes-Pereira, L Foiry, A Nicole, A Huguet, C Junien, A Munnich, ... PLoS genetics 3 (4), e52, 2007 | 134 | 2007 |
Molecular, physiological, and motor performance defects in DMSXL mice carrying> 1,000 CTG repeats from the human DM1 locus A Huguet, F Medja, A Nicole, A Vignaud, C Guiraud-Dogan, A Ferry, ... PLoS genetics 8 (11), e1003043, 2012 | 128 | 2012 |
Myotonic dystrophy, when simple repeats reveal complex pathogenic entities: new findings and future challenges G Sicot, G Gourdon, M Gomes-Pereira Human Molecular Genetics 20 (R2), R116-R123, 2011 | 112 | 2011 |
Myotonic dystrophy mouse models: towards rational therapy development M Gomes-Pereira, TA Cooper, G Gourdon Trends in molecular medicine 17 (9), 506-517, 2011 | 103 | 2011 |
Chemical modifiers of unstable expanded simple sequence repeats: what goes up, could come down M Gomes-Pereira, DG Monckton Mutation Research/Fundamental and Molecular Mechanisms of Mutagenesis 598 (1 …, 2006 | 101 | 2006 |
Analysis of unstable triplet repeats using small-pool polymerase chain reaction M Gomes-Pereira, SI Bidichandani, DG Monckton Trinucleotide repeat protocols, 61-76, 2004 | 97 | 2004 |
Mouse tissue culture models of unstable triplet repeats: in vitro selection for larger alleles, mutational expansion bias and tissue specificity, but no association with … M Gomes-Pereira, MT Fortune, DG Monckton Human molecular genetics 10 (8), 845-854, 2001 | 97 | 2001 |
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour O Hernández-Hernández, C Guiraud-Dogan, G Sicot, A Huguet, S Luilier, ... Brain 136 (3), 957-970, 2013 | 92 | 2013 |
Chemically induced increases and decreases in the rate of expansion of a CAG· CTG triplet repeat M Gomes‐Pereira, DG Monckton Nucleic acids research 32 (9), 2865-2872, 2004 | 84 | 2004 |
RNA toxicity in human disease and animal models: from the uncovering of a new mechanism to the development of promising therapies G Sicot, M Gomes-Pereira Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1832 (9 …, 2013 | 82 | 2013 |
Consensus on cerebral involvement in myotonic dystrophy: workshop report: May 24–27, 2013, Ferrere (AT), Italy E Bugiardini, G Meola Neuromuscular Disorders 24 (5), 445-452, 2014 | 53 | 2014 |
DM1 CTG expansions affect insulin receptor isoforms expression in various tissues of transgenic mice C Guiraud-Dogan, A Huguet, M Gomes-Pereira, E Brisson, G Bassez, ... Biochimica et Biophysica Acta (BBA)-Molecular Basis of Disease 1772 (11-12 …, 2007 | 52 | 2007 |
Downregulation of the glial GLT1 glutamate transporter and purkinje cell dysfunction in a mouse model of myotonic dystrophy G Sicot, L Servais, DM Dinca, A Leroy, C Prigogine, F Medja, SO Braz, ... Cell reports 19 (13), 2718-2729, 2017 | 48 | 2017 |
Of Mice and Men: Advances in the Understanding of Neuromuscular Aspects of Myotonic Dystrophy SO Braz, J Acquaire, G Gourdon, M Gomes-Pereira Frontiers in Neurology 9, 519, 2018 | 45 | 2018 |
Disease-associated CAG· CTG triplet repeats expand rapidly in non-dividing mouse cells, but cell cycle arrest is insufficient to drive expansion M Gomes-Pereira, JD Hilley, F Morales, B Adam, HE James, ... Nucleic acids research 42 (11), 7047-7056, 2014 | 37 | 2014 |
Workshop Report: consensus on biomarkers of cerebral involvement in myotonic dystrophy, 2–3 December 2014, Milan, Italy G Bosco, S Diamanti, G Meola, DMCNS Group Neuromuscular Disorders 25 (10), 813-823, 2015 | 21 | 2015 |
Synaptic protein dysregulation in myotonic dystrophy type 1: Disease neuropathogenesis beyond missplicing O Hernández-Hernández, G Sicot, DM Dinca, A Huguet, A Nicole, L Buée, ... Rare Diseases 1 (1), 957-70, 2013 | 19 | 2013 |