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CTG trinucleotide repeat "big jumps": large expansions, small mice.
Gomes-Pereira M, Foiry L, Nicole A, Huguet A, Junien C, Munnich A, Gourdon G. Gomes-Pereira M, et al. PLoS Genet. 2007 Apr 6;3(4):e52. doi: 10.1371/journal.pgen.0030052. Epub 2007 Feb 22. PLoS Genet. 2007. PMID: 17411343 Free PMC article.
Molecular, physiological, and motor performance defects in DMSXL mice carrying >1,000 CTG repeats from the human DM1 locus.
Huguet A, Medja F, Nicole A, Vignaud A, Guiraud-Dogan C, Ferry A, Decostre V, Hogrel JY, Metzger F, Hoeflich A, Baraibar M, Gomes-Pereira M, Puymirat J, Bassez G, Furling D, Munnich A, Gourdon G. Huguet A, et al. PLoS Genet. 2012;8(11):e1003043. doi: 10.1371/journal.pgen.1003043. Epub 2012 Nov 29. PLoS Genet. 2012. PMID: 23209425 Free PMC article.
Myotonic dystrophy CTG expansion affects synaptic vesicle proteins, neurotransmission and mouse behaviour.
Hernández-Hernández O, Guiraud-Dogan C, Sicot G, Huguet A, Luilier S, Steidl E, Saenger S, Marciniak E, Obriot H, Chevarin C, Nicole A, Revillod L, Charizanis K, Lee KY, Suzuki Y, Kimura T, Matsuura T, Cisneros B, Swanson MS, Trovero F, Buisson B, Bizot JC, Hamon M, Humez S, Bassez G, Metzger F, Buée L, Munnich A, Sergeant N, Gourdon G, Gomes-Pereira M. Hernández-Hernández O, et al. Brain. 2013 Mar;136(Pt 3):957-70. doi: 10.1093/brain/aws367. Epub 2013 Feb 11. Brain. 2013. PMID: 23404338 Free PMC article.
Non-radioactive detection of trinucleotide repeat size variability.
Tomé S, Nicole A, Gomes-Pereira M, Gourdon G. Tomé S, et al. PLoS Curr. 2014 Mar 6;6:ecurrents.md.ad50113b899fa1352ce70c087eead706. doi: 10.1371/currents.md.ad50113b899fa1352ce70c087eead706. PLoS Curr. 2014. PMID: 24611127 Free PMC article.
31 results