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2012
J. J. Fernández, Martínez, R., Andújar, E., Pérez-Alegre, M., Costa, A., Bonilla-Henao, V., Sobrino, F., Pintado, C. Ó., and Pintado, E., Gene expression profiles in the cerebellum of transgenic mice over expressing the human FMR1 gene with CGG repeats in the normal range, vol. 11, pp. 467-483, 2012.
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Neuropathologic features in the hippocampus and cerebellum of three older men with fragile X syndrome. Mol. Autism 2: 2. http://dx.doi.org/10.1186/2040-2392-2-2 PMid:21303513    PMCid:3045897 Hagerman PJ and Hagerman RJ (2004a). Fragile X-associated tremor/ataxia syndrome (FXTAS). Ment. Retard. Dev. Disabil. Res. Rev. 10: 25-30. http://dx.doi.org/10.1002/mrdd.20005 PMid:14994285 Hagerman PJ and Hagerman RJ (2004b). The fragile-X premutation: a maturing perspective. Am. J. Hum. Genet. 74: 805-816. http://dx.doi.org/10.1086/386296 PMid:15052536 Hagerman PJ and Hagerman RJ (2007). Fragile X-associated tremor/ataxia syndrome - an older face of the fragile X gene. Nat. Clin. Pract. Neurol. 3: 107-112. http://dx.doi.org/10.1038/ncpneuro0373 PMid:17279084 Hagerman RJ, Leehey M, Heinrichs W, Tassone F, et al. (2001). Intention tremor, parkinsonism, and generalized brain atrophy in male carriers of fragile X. Neurology 57: 127-130. http://dx.doi.org/10.1212/WNL.57.1.127 PMid:11445641 Hmadcha A, De Diego Y and Pintado E (1998). Assessment of FMR1 expression by reverse transcriptase-polymerase chain reaction of KH domains. J. Lab. Clin. Med. 131: 170-173. http://dx.doi.org/10.1016/S0022-2143(98)90160-3 Hunsaker MR, von Leden RE, Ta BT, Goodrich-Hunsaker NJ, et al. (2011). Motor deficits on a ladder rung task in male and female adolescent and adult CGG knock-in mice. Behav. Brain Res. 222: 117-121. http://dx.doi.org/10.1016/j.bbr.2011.03.039 PMid:21440572 Irizarry RA, Hobbs B, Collin F, Beazer-Barclay YD, et al. (2003). Exploration, normalization, and summaries of high density oligonucleotide array probe level data. Biostatistics 4: 249-264. http://dx.doi.org/10.1093/biostatistics/4.2.249 PMid:12925520 Jacquemont S, Hagerman RJ, Leehey M, Grigsby J, et al. (2003). Fragile X premutation tremor/ataxia syndrome: molecular, clinical, and neuroimaging correlates. Am. J. Hum. Genet. 72: 869-878. http://dx.doi.org/10.1086/374321 PMid:12638084 Jacquemont S, Hagerman RJ, Hagerman PJ and Leehey MA (2007). Fragile-X syndrome and fragile X-associated tremor/ ataxia syndrome: two faces of FMR1. Lancet Neurol. 6: 45-55. http://dx.doi.org/10.1016/S1474-4422(06)70676-7 Janitzky K, Stork O, Lux A, Yanagawa Y, et al. (2009). Behavioral effects and pattern of brain c-fos mRNA induced by 2,5-dihydro-2,4,5-trimethylthiazoline, a component of fox feces odor in GAD67-GFP knock-in C57BL/6 mice. Behav. Brain Res. 202: 218-224. http://dx.doi.org/10.1016/j.bbr.2009.03.038 PMid:19463704 Jin P, Zarnescu DC, Zhang F, Pearson CE, et al. (2003). RNA-mediated neurodegeneration caused by the fragile X premutation rCGG repeats in Drosophila. Neuron 39: 739-747. http://dx.doi.org/10.1016/S0896-6273(03)00533-6 Kenneson A, Zhang F, Hagedorn CH and Warren ST (2001). Reduced FMRP and increased FMR1 transcription is proportionally associated with CGG repeat number in intermediate-length and premutation carriers. Hum. Mol. Genet. 10: 1449-1454. http://dx.doi.org/10.1093/hmg/10.14.1449 PMid:11448936 Lemmens R, Moore MJ, Al-Chalabi A, Brown RH Jr, et al. (2010). RNA metabolism and the pathogenesis of motor neuron diseases. Trends Neurosci. 33: 249-258. http://dx.doi.org/10.1016/j.tins.2010.02.003 PMid:20227117 Loesch DZ, Bui QM, Huggins RM, Mitchell RJ, et al. (2007). Transcript levels of the intermediate size or grey zone fragile X mental retardation 1 alleles are raised, and correlate with the number of CGG repeats. J. Med. Genet. 44: 200-204. http://dx.doi.org/10.1136/jmg.2006.043950 PMid:16905681    PMCid:2598026 Mejias R, Villadiego J, Pintado CO, Vime PJ, et al. (2006). Neuroprotection by transgenic expression of glucose-6- phosphate dehydrogenase in dopaminergic nigrostriatal neurons of mice. J. Neurosci. 26: 4500-4508. http://dx.doi.org/10.1523/JNEUROSCI.0122-06.2006 PMid:16641229 Oostra BA and Willemsen R (2009). FMR1: a gene with three faces. Biochim. Biophys. Acta 1790: 467-477. http://dx.doi.org/10.1016/j.bbagen.2009.02.007 PMid:19233246    PMCid:2692361 Paylor R, Yuva-Paylor LA, Nelson DL and Spencer CM (2008). Reversal of sensorimotor gating abnormalities in Fmr1 knockout mice carrying a human Fmr1 transgene. Behav. Neurosci. 122: 1371-1377. http://dx.doi.org/10.1037/a0013047 PMid:19045956 Porcellini E, Davis EJ, Chiappelli M, Ianni E, et al. (2008). Elevated plasma levels of alpha-1-anti-chymotrypsin in age-related cognitive decline and Alzheimer’s disease: a potential therapeutic target. Curr. Pharm. Des. 14: 2659-2664. http://dx.doi.org/10.2174/138161208786264151 PMid:18991685 Sanges R, Cordero F and Calogero RA (2007). oneChannelGUI: a graphical interface to Bioconductor tools, designed for life scientists who are not familiar with R language. Bioinformatics 23: 3406-3408. http://dx.doi.org/10.1093/bioinformatics/btm469 PMid:17875544 Smyth GK (2004). Linear models and empirical Bayes methods for assessing differential expression in microarray experiments. Stat. Appl. Genet. Mol. Biol. 3: Article3. Tassone F, Hagerman RJ, Taylor AK, Gane LW, et al. (2000a). Elevated levels of FMR1 mRNA in carrier males: a new mechanism of involvement in the fragile-X syndrome. Am. J. Hum. Genet. 66: 6-15. http://dx.doi.org/10.1086/302720 PMid:10631132 Tassone F, Hagerman RJ, Loesch DZ, Lachiewicz A, et al. (2000b). Fragile X males with unmethylated, full mutation trinucleotide repeat expansions have elevated levels of FMR1 messenger RNA. Am. J. Med. Genet. 94: 232-236. http://dx.doi.org/10.1002/1096-8628(20000918)94:3<232::AID-AJMG9>3.0.CO;2-H Tassone F, Beilina A, Carosi C, Albertosi S, et al. (2007). Elevated FMR1 mRNA in premutation carriers is due to increased transcription. RNA 13: 555-562. http://dx.doi.org/10.1261/rna.280807 PMid:17283214    PMCid:1831862 Van Dam D, Errijgers V, Kooy RF, Willemsen R, et al. (2005). Cognitive decline, neuromotor and behavioural disturbances in a mouse model for fragile-X-associated tremor/ataxia syndrome (FXTAS). Behav. Brain Res. 162: 233-239. http://dx.doi.org/10.1016/j.bbr.2005.03.007 PMid:15876460 Wenzel HJ, Hunsaker MR, Greco CM, Willemsen R, et al. (2010). Ubiquitin-positive intranuclear inclusions in neuronal and glial cells in a mouse model of the fragile X premutation. Brain Res. 1318: 155-166. http://dx.doi.org/10.1016/j.brainres.2009.12.077 PMid:20051238    PMCid:3086812 Willemsen R, Hoogeveen-Westerveld M, Reis S, Holstege J, et al. (2003). The FMR1 CGG repeat mouse displays ubiquitin-positive intranuclear neuronal inclusions; implications for the cerebellar tremor/ataxia syndrome. Hum. Mol. Genet. 12: 949-959. http://dx.doi.org/10.1093/hmg/ddg114 PMid:12700164