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Ricardo Mouro Pinto, Ph.D.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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  1. Neto JL, Lee JM, Afridi A, Gillis T, Guide JR, Dempsey S, Lager B, Alonso I, Wheeler VC, Pinto RM. Genetic Contributors to Intergenerational CAG Repeat Instability in Huntington's Disease Knock-In Mice. Genetics. 2017 02; 205(2):503-516. PMID: 27913616.
    View in: PubMed
  2. Identification of Genetic Factors that Modify Clinical Onset of Huntington's Disease. Cell. 2015 Jul 30; 162(3):516-26. PMID: 26232222; PMCID: PMC4524551.
  3. Pinto RM, Dragileva E, Kirby A, Lloret A, Lopez E, St Claire J, Panigrahi GB, Hou C, Holloway K, Gillis T, Guide JR, Cohen PE, Li GM, Pearson CE, Daly MJ, Wheeler VC. Mismatch repair genes Mlh1 and Mlh3 modify CAG instability in Huntington's disease mice: genome-wide and candidate approaches. PLoS Genet. 2013 Oct; 9(10):e1003930. PMID: 24204323; PMCID: PMC3814320.
  4. Al-Mahdawi S, Sandi C, Mouro Pinto R, Pook MA. Friedreich ataxia patient tissues exhibit increased 5-hydroxymethylcytosine modification and decreased CTCF binding at the FXN locus. PLoS One. 2013; 8(9):e74956. PMID: 24023969; PMCID: PMC3762780.
  5. Bourn RL, De Biase I, Pinto RM, Sandi C, Al-Mahdawi S, Pook MA, Bidichandani SI. Pms2 suppresses large expansions of the (GAA·TTC)n sequence in neuronal tissues. PLoS One. 2012; 7(10):e47085. PMID: 23071719; PMCID: PMC3469490.
  6. Ezzatizadeh V, Pinto RM, Sandi C, Sandi M, Al-Mahdawi S, Te Riele H, Pook MA. The mismatch repair system protects against intergenerational GAA repeat instability in a Friedreich ataxia mouse model. Neurobiol Dis. 2012 Apr; 46(1):165-71. PMID: 22289650; PMCID: PMC3556645.
  7. Lee JM, Pinto RM, Gillis T, St Claire JC, Wheeler VC. Quantification of age-dependent somatic CAG repeat instability in Hdh CAG knock-in mice reveals different expansion dynamics in striatum and liver. PLoS One. 2011; 6(8):e23647. PMID: 21897851; PMCID: PMC3163641.
  8. Sandi C, Pinto RM, Al-Mahdawi S, Ezzatizadeh V, Barnes G, Jones S, Rusche JR, Gottesfeld JM, Pook MA. Prolonged treatment with pimelic o-aminobenzamide HDAC inhibitors ameliorates the disease phenotype of a Friedreich ataxia mouse model. Neurobiol Dis. 2011 Jun; 42(3):496-505. PMID: 21397024; PMCID: PMC3107941.
  9. Al-Mahdawi S, Pinto RM, Ismail O, Varshney D, Lymperi S, Sandi C, Trabzuni D, Pook M. The Friedreich ataxia GAA repeat expansion mutation induces comparable epigenetic changes in human and transgenic mouse brain and heart tissues. Hum Mol Genet. 2008 Mar 01; 17(5):735-46. PMID: 18045775.
    View in: PubMed
  10. Al-Mahdawi S, Pinto RM, Varshney D, Lawrence L, Lowrie MB, Hughes S, Webster Z, Blake J, Cooper JM, King R, Pook MA. GAA repeat expansion mutation mouse models of Friedreich ataxia exhibit oxidative stress leading to progressive neuronal and cardiac pathology. Genomics. 2006 Nov; 88(5):580-90. PMID: 16919418.
    View in: PubMed
  11. Al-Mahdawi S, Pinto RM, Ruddle P, Carroll C, Webster Z, Pook M. GAA repeat instability in Friedreich ataxia YAC transgenic mice. Genomics. 2004 Aug; 84(2):301-10. PMID: 15233994.
    View in: PubMed
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