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Page 1
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. Among authors: munnich a. 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.
Polyalanine expansions in human.
Amiel J, Trochet D, Clément-Ziza M, Munnich A, Lyonnet S. Amiel J, et al. Among authors: munnich a. Hum Mol Genet. 2004 Oct 1;13 Spec No 2:R235-43. doi: 10.1093/hmg/ddh251. Hum Mol Genet. 2004. PMID: 15358730 Review.
A fourth locus for autosomal dominant hypercholesterolemia maps at 16q22.1.
Marques-Pinheiro A, Marduel M, Rabès JP, Devillers M, Villéger L, Allard D, Weissenbach J, Guerin M, Zair Y, Erlich D, Junien C, Munnich A, Krempf M, Abifadel M, Jaïs JP; French Research Network on ADH; Boileau C, Varret M. Marques-Pinheiro A, et al. Among authors: munnich a. Eur J Hum Genet. 2010 Nov;18(11):1236-42. doi: 10.1038/ejhg.2010.94. Epub 2010 Jun 23. Eur J Hum Genet. 2010. PMID: 20571503 Free PMC article.
Molecular spectrum of autosomal dominant hypercholesterolemia in France.
Marduel M, Carrié A, Sassolas A, Devillers M, Carreau V, Di Filippo M, Erlich D, Abifadel M, Marques-Pinheiro A, Munnich A, Junien C; French ADH Research Network; Boileau C, Varret M, Rabès JP. Marduel M, et al. Among authors: munnich a. Hum Mutat. 2010 Nov;31(11):E1811-24. doi: 10.1002/humu.21348. Hum Mutat. 2010. PMID: 20809525 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. Among authors: munnich a. 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. Among authors: munnich a. Brain. 2013 Mar;136(Pt 3):957-70. doi: 10.1093/brain/aws367. Epub 2013 Feb 11. Brain. 2013. PMID: 23404338 Free PMC article.
1,068 results