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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. 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 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. 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.
Clinicopathologic heterogeneity in frontotemporal dementia and parkinsonism linked to chromosome 17 (FTDP-17) due to microtubule-associated protein tau (MAPT) p.P301L mutation, including a patient with globular glial tauopathy.
Tacik P, Sanchez-Contreras M, DeTure M, Murray ME, Rademakers R, Ross OA, Wszolek ZK, Parisi JE, Knopman DS, Petersen RC, Dickson DW. Tacik P, et al. Neuropathol Appl Neurobiol. 2017 Apr;43(3):200-214. doi: 10.1111/nan.12367. Epub 2017 Mar 8. Neuropathol Appl Neurobiol. 2017. PMID: 27859539 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.
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 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.
Cognitive impairment in progressive supranuclear palsy is associated with tau burden.
Koga S, Parks A, Kasanuki K, Sanchez-Contreras M, Baker MC, Josephs KA, Ahlskog JE, Uitti RJ, Graff-Radford N, van Gerpen JA, Wszolek ZK, Rademakers R, Dickson DW. Koga S, et al. Mov Disord. 2017 Dec;32(12):1772-1779. doi: 10.1002/mds.27198. Epub 2017 Oct 30. Mov Disord. 2017. PMID: 29082658 Free PMC article.
51 results