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131 results

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An ENU-induced mutation in mouse glycyl-tRNA synthetase (GARS) causes peripheral sensory and motor phenotypes creating a model of Charcot-Marie-Tooth type 2D peripheral neuropathy.
Achilli F, Bros-Facer V, Williams HP, Banks GT, AlQatari M, Chia R, Tucci V, Groves M, Nickols CD, Seburn KL, Kendall R, Cader MZ, Talbot K, van Minnen J, Burgess RW, Brandner S, Martin JE, Koltzenburg M, Greensmith L, Nolan PM, Fisher EM. Achilli F, et al. Among authors: tucci v. Dis Model Mech. 2009 Jul-Aug;2(7-8):359-73. doi: 10.1242/dmm.002527. Epub 2009 May 26. Dis Model Mech. 2009. PMID: 19470612 Free PMC article.
The after-hours mutant reveals a role for Fbxl3 in determining mammalian circadian period.
Godinho SI, Maywood ES, Shaw L, Tucci V, Barnard AR, Busino L, Pagano M, Kendall R, Quwailid MM, Romero MR, O'neill J, Chesham JE, Brooker D, Lalanne Z, Hastings MH, Nolan PM. Godinho SI, et al. Among authors: tucci v. Science. 2007 May 11;316(5826):897-900. doi: 10.1126/science.1141138. Epub 2007 Apr 26. Science. 2007. PMID: 17463252
Dominant β-catenin mutations cause intellectual disability with recognizable syndromic features.
Tucci V, Kleefstra T, Hardy A, Heise I, Maggi S, Willemsen MH, Hilton H, Esapa C, Simon M, Buenavista MT, McGuffin LJ, Vizor L, Dodero L, Tsaftaris S, Romero R, Nillesen WN, Vissers LE, Kempers MJ, Vulto-van Silfhout AT, Iqbal Z, Orlando M, Maccione A, Lassi G, Farisello P, Contestabile A, Tinarelli F, Nieus T, Raimondi A, Greco B, Cantatore D, Gasparini L, Berdondini L, Bifone A, Gozzi A, Wells S, Nolan PM. Tucci V, et al. J Clin Invest. 2014 Apr;124(4):1468-82. doi: 10.1172/JCI70372. Epub 2014 Mar 10. J Clin Invest. 2014. PMID: 24614104 Free PMC article.
Novel mutations in human and mouse SCN4A implicate AMPK in myotonia and periodic paralysis.
Corrochano S, Männikkö R, Joyce PI, McGoldrick P, Wettstein J, Lassi G, Raja Rayan DL, Blanco G, Quinn C, Liavas A, Lionikas A, Amior N, Dick J, Healy EG, Stewart M, Carter S, Hutchinson M, Bentley L, Fratta P, Cortese A, Cox R, Brown SD, Tucci V, Wackerhage H, Amato AA, Greensmith L, Koltzenburg M, Hanna MG, Acevedo-Arozena A. Corrochano S, et al. Among authors: tucci v. Brain. 2014 Dec;137(Pt 12):3171-85. doi: 10.1093/brain/awu292. Epub 2014 Oct 27. Brain. 2014. PMID: 25348630 Free PMC article.
Reliability, robustness, and reproducibility in mouse behavioral phenotyping: a cross-laboratory study.
Mandillo S, Tucci V, Hölter SM, Meziane H, Banchaabouchi MA, Kallnik M, Lad HV, Nolan PM, Ouagazzal AM, Coghill EL, Gale K, Golini E, Jacquot S, Krezel W, Parker A, Riet F, Schneider I, Marazziti D, Auwerx J, Brown SD, Chambon P, Rosenthal N, Tocchini-Valentini G, Wurst W. Mandillo S, et al. Among authors: tucci v. Physiol Genomics. 2008 Aug 15;34(3):243-55. doi: 10.1152/physiolgenomics.90207.2008. Epub 2008 May 27. Physiol Genomics. 2008. PMID: 18505770 Free PMC article.
131 results