| 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 | 956 | 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 | 366 | 2012 |
| Misregulation of miR-1 processing is associated with heart defects in myotonic dystrophy F Rau, F Freyermuth, C Fugier, JP Villemin, MC Fischer, B Jost, ... Nature structural & molecular biology 18 (7), 840-845, 2011 | 319 | 2011 |
| Triplet-repeat oligonucleotide-mediated reversal of RNA toxicity in myotonic dystrophy SAM Mulders, WJAA van den Broek, TM Wheeler, HJE Croes, ... Proceedings of the National Academy of Sciences 106 (33), 13915-13920, 2009 | 312 | 2009 |
| Mice transgenic for the human myotonic dystrophy region with expanded CTG repeats display muscular and brain abnormalities H Seznec, O Agbulut, N Sergeant, C Savouret, A Ghestem, N Tabti, ... Human Molecular Genetics 10 (23), 2717-2726, 2001 | 268 | 2001 |
| CTG repeat instability and size variation timing in DNA repair‐deficient mice C Savouret, E Brisson, J Essers, R Kanaar, A Pastink, H Te Riele, ... The EMBO journal, 2003 | 243 | 2003 |
| Characterization of the major regulatory element upstream of the human a-globin gene cluster AP Jarman, WG Wood, JA Sharpe, G Gourdon, H Ayyub, DR Higgs Molecular and cellular biology 11 (9), 4679-4689, 1991 | 226 | 1991 |
| Transgenic mice carrying large human genomic sequences with expanded CTG repeat mimic closely the DM CTG repeat intergenerational and somatic instability H Seznec, AS Lia-Baldini, C Duros, C Fouquet, C Lacroix, ... Human molecular genetics 9 (8), 1185-1194, 2000 | 206 | 2000 |
| Msh3 is a limiting factor in the formation of intergenerational CTG expansions in DM1 transgenic mice L Foiry, L Dong, C Savouret, L Hubert, H Riele, C Junien, G Gourdon Human genetics 119, 520-526, 2006 | 160 | 2006 |
| Expanded CTG repeat demarcates a boundary for abnormal CpG methylation in myotonic dystrophy patient tissues A López Castel, M Nakamori, S Tome, D Chitayat, G Gourdon, ... Human molecular genetics 20 (1), 1-15, 2011 | 150 | 2011 |
| New nomenclature and DNA testing guidelines for myotonic dystrophy type 1 (DM1) International Myotonic Dystrophy Consortium (IDMC) Neurology 54 (6), 1218-1221, 2000 | 148 | 2000 |
| Moderate intergenerational and somatic instability of a 55-CTG repeat in transgenic mice G Gourdon, F Radvanyi, AS Lia, C Duros, M Blanche, M Abitbol, C Junien, ... Nature genetics 15 (2), 190-192, 1997 | 144 | 1997 |
| CRISPR/Cas9-induced (CTG⋅ CAG) n repeat instability in the myotonic dystrophy type 1 locus: implications for therapeutic genome editing EL Van Agtmaal, LM André, M Willemse, SA Cumming, ID Van Kessel, ... Molecular therapy 25 (1), 24-43, 2017 | 138 | 2017 |
| Defective satellite cells in congenital myotonic dystrophy D Furling, L Coiffier, V Mouly, JP Barbet, J Lacau St Guily, K Taneja, ... Human molecular genetics 10 (19), 2079-2087, 2001 | 138 | 2001 |
| 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 | 130 | 2007 |
| MSH2-dependent germinal CTG repeat expansions are produced continuously in spermatogonia from DM1 transgenic mice C Savouret, C Garcia-Cordier, J Megret, H te Riele, C Junien, G Gourdon Molecular and cellular biology, 2004 | 124 | 2004 |
| 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 | 123 | 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 | 111 | 2011 |
| MSH2 ATPase domain mutation affects CTG• CAG repeat instability in transgenic mice S Tomé, I Holt, W Edelmann, GE Morris, A Munnich, CE Pearson, ... PLoS genetics 5 (5), e1000482, 2009 | 110 | 2009 |
| Somatic instability of the CTG repeat in mice transgenic for the myotonic dystrophy region is age dependent but not correlated to the relative intertissue transcription levels … AS Lia, H Seznec, H Hofmann-Radvanyi, F Radvanyi, C Duros, C Saquet, ... Human molecular genetics 7 (8), 1285-1291, 1998 | 105 | 1998 |
Mario Gomes-PereiraSorbonne Université, Inserm, Centre de Recherche en Myologie, ParisVerified email at inserm.fr
