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Replication of progressive supranuclear palsy genome-wide association study identifies SLCO1A2 and DUSP10 as new susceptibility loci.
Sanchez-Contreras MY, Kouri N, Cook CN, Serie DJ, Heckman MG, Finch NA, Caselli RJ, Uitti RJ, Wszolek ZK, Graff-Radford N, Petrucelli L, Wang LS, Schellenberg GD, Dickson DW, Rademakers R, Ross OA. Sanchez-Contreras MY, et al. Mol Neurodegener. 2018 Jul 9;13(1):37. doi: 10.1186/s13024-018-0267-3. Mol Neurodegener. 2018. PMID: 29986742 Free PMC article.
SLC20A2 and THAP1 deletion in familial basal ganglia calcification with dystonia.
Baker M, Strongosky AJ, Sanchez-Contreras MY, Yang S, Ferguson W, Calne DB, Calne S, Stoessl AJ, Allanson JE, Broderick DF, Hutton ML, Dickson DW, Ross OA, Wszolek ZK, Rademakers R. Baker M, et al. Among authors: sanchez contreras my. Neurogenetics. 2014 Mar;15(1):23-30. doi: 10.1007/s10048-013-0378-5. Epub 2013 Oct 18. Neurogenetics. 2014. PMID: 24135862 Free PMC article.
A familial form of parkinsonism, dementia, and motor neuron disease: a longitudinal study.
Fujioka S, Boeve BF, Parisi JE, Tacik P, Aoki N, Strongosky AJ, Baker M, Sanchez-Contreras M, Ross OA, Rademakers R, Sossi V, Dickson DW, Stoessl AJ, Wszolek ZK. Fujioka S, et al. Parkinsonism Relat Disord. 2014 Nov;20(11):1129-34. doi: 10.1016/j.parkreldis.2014.07.014. Epub 2014 Aug 19. Parkinsonism Relat Disord. 2014. PMID: 25175602 Free PMC article.
Three sib-pairs of autopsy-confirmed progressive supranuclear palsy.
Fujioka S, Sanchez Contreras MY, Strongosky AJ, Ogaki K, Whaley NR, Tacik PM, van Gerpen JA, Uitti RJ, Ross OA, Wszolek ZK, Rademakers R, Dickson DW. Fujioka S, et al. Among authors: sanchez contreras my. Parkinsonism Relat Disord. 2015 Feb;21(2):101-5. doi: 10.1016/j.parkreldis.2014.10.028. Epub 2014 Nov 15. Parkinsonism Relat Disord. 2015. PMID: 25443551 Free PMC article.
A novel tau mutation, p.K317N, causes globular glial tauopathy.
Tacik P, DeTure M, Lin WL, Sanchez Contreras M, Wojtas A, Hinkle KM, Fujioka S, Baker MC, Walton RL, Carlomagno Y, Brown PH, Strongosky AJ, Kouri N, Murray ME, Petrucelli L, Josephs KA, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tacik P, et al. Acta Neuropathol. 2015 Aug;130(2):199-214. doi: 10.1007/s00401-015-1425-0. Epub 2015 Apr 22. Acta Neuropathol. 2015. PMID: 25900293 Free PMC article.
A Point Mutation in PDGFRB Causes Autosomal-Dominant Penttinen Syndrome.
Johnston JJ, Sanchez-Contreras MY, Keppler-Noreuil KM, Sapp J, Crenshaw M, Finch NA, Cormier-Daire V, Rademakers R, Sybert VP, Biesecker LG. Johnston JJ, et al. Among authors: sanchez contreras my. Am J Hum Genet. 2015 Sep 3;97(3):465-74. doi: 10.1016/j.ajhg.2015.07.009. Epub 2015 Aug 13. Am J Hum Genet. 2015. PMID: 26279204 Free PMC article.
A Novel Tau Mutation in Exon 12, p.Q336H, Causes Hereditary Pick Disease.
Tacik P, DeTure M, Hinkle KM, Lin WL, Sanchez-Contreras M, Carlomagno Y, Pedraza O, Rademakers R, Ross OA, Wszolek ZK, Dickson DW. Tacik P, et al. J Neuropathol Exp Neurol. 2015 Nov;74(11):1042-52. doi: 10.1097/NEN.0000000000000248. J Neuropathol Exp Neurol. 2015. PMID: 26426266 Free PMC article.
25 results