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Page 1
TYROBP genetic variants in early-onset Alzheimer's disease.
Pottier C, Ravenscroft TA, Brown PH, Finch NA, Baker M, Parsons M, Asmann YW, Ren Y, Christopher E, Levitch D, van Blitterswijk M, Cruchaga C, Campion D, Nicolas G, Richard AC, Guerreiro R, Bras JT, Zuchner S, Gonzalez MA, Bu G, Younkin S, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Ertekin-Taner N, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. Pottier C, et al. Among authors: brown ph. Neurobiol Aging. 2016 Dec;48:222.e9-222.e15. doi: 10.1016/j.neurobiolaging.2016.07.028. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27658901 Free PMC article.
Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease.
Pottier C, Bieniek KF, Finch N, van de Vorst M, Baker M, Perkersen R, Brown P, Ravenscroft T, van Blitterswijk M, Nicholson AM, DeTure M, Knopman DS, Josephs KA, Parisi JE, Petersen RC, Boylan KB, Boeve BF, Graff-Radford NR, Veltman JA, Gilissen C, Murray ME, Dickson DW, Rademakers R. Pottier C, et al. Acta Neuropathol. 2015 Jul;130(1):77-92. doi: 10.1007/s00401-015-1436-x. Epub 2015 May 6. Acta Neuropathol. 2015. PMID: 25943890 Free PMC article.
Association between repeat sizes and clinical and pathological characteristics in carriers of C9ORF72 repeat expansions (Xpansize-72): a cross-sectional cohort study.
van Blitterswijk M, DeJesus-Hernandez M, Niemantsverdriet E, Murray ME, Heckman MG, Diehl NN, Brown PH, Baker MC, Finch NA, Bauer PO, Serrano G, Beach TG, Josephs KA, Knopman DS, Petersen RC, Boeve BF, Graff-Radford NR, Boylan KB, Petrucelli L, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: brown ph. Lancet Neurol. 2013 Oct;12(10):978-88. doi: 10.1016/S1474-4422(13)70210-2. Epub 2013 Sep 5. Lancet Neurol. 2013. PMID: 24011653 Free PMC article.
TMEM106B protects C9ORF72 expansion carriers against frontotemporal dementia.
van Blitterswijk M, Mullen B, Nicholson AM, Bieniek KF, Heckman MG, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: brown ph. Acta Neuropathol. 2014 Mar;127(3):397-406. doi: 10.1007/s00401-013-1240-4. Epub 2014 Jan 3. Acta Neuropathol. 2014. PMID: 24385136 Free PMC article.
Ataxin-2 as potential disease modifier in C9ORF72 expansion carriers.
van Blitterswijk M, Mullen B, Heckman MG, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: brown ph. Neurobiol Aging. 2014 Oct;35(10):2421.e13-7. doi: 10.1016/j.neurobiolaging.2014.04.016. Epub 2014 May 2. Neurobiol Aging. 2014. PMID: 24866401 Free PMC article.
Genetic modifiers in carriers of repeat expansions in the C9ORF72 gene.
van Blitterswijk M, Mullen B, Wojtas A, Heckman MG, Diehl NN, Baker MC, DeJesus-Hernandez M, Brown PH, Murray ME, Hsiung GY, Stewart H, Karydas AM, Finger E, Kertesz A, Bigio EH, Weintraub S, Mesulam M, Hatanpaa KJ, White CL 3rd, Neumann M, Strong MJ, Beach TG, Wszolek ZK, Lippa C, Caselli R, Petrucelli L, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Mackenzie IR, Seeley WW, Grinberg LT, Miller BL, Boylan KB, Graff-Radford NR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: brown ph. Mol Neurodegener. 2014 Sep 20;9:38. doi: 10.1186/1750-1326-9-38. Mol Neurodegener. 2014. PMID: 25239657 Free PMC article.
Novel clinical associations with specific C9ORF72 transcripts in patients with repeat expansions in C9ORF72.
van Blitterswijk M, Gendron TF, Baker MC, DeJesus-Hernandez M, Finch NA, Brown PH, Daughrity LM, Murray ME, Heckman MG, Jiang J, Lagier-Tourenne C, Edbauer D, Cleveland DW, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Boylan KB, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: brown ph. Acta Neuropathol. 2015 Dec;130(6):863-76. doi: 10.1007/s00401-015-1480-6. Epub 2015 Oct 5. Acta Neuropathol. 2015. PMID: 26437865 Free PMC article.
The presenilin 1 p.Gly206Ala mutation is a frequent cause of early-onset Alzheimer's disease in Hispanics in Florida.
Ravenscroft TA, Pottier C, Murray ME, Baker M, Christopher E, Levitch D, Brown PH, Barker W, Duara R, Greig-Custo M, Betancourt A, English M, Sun X, Ertekin-Taner N, Graff-Radford NR, Dickson DW, Rademakers R. Ravenscroft TA, et al. Among authors: brown ph. Am J Neurodegener Dis. 2016 Mar 1;5(1):94-101. eCollection 2016. Am J Neurodegener Dis. 2016. PMID: 27073747 Free PMC article.
Abnormal expression of homeobox genes and transthyretin in C9ORF72 expansion carriers.
Finch NA, Wang X, Baker MC, Heckman MG, Gendron TF, Bieniek KF, Wuu J, DeJesus-Hernandez M, Brown PH, Chew J, Jansen-West KR, Daughrity LM, Nicholson AM, Murray ME, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Petrucelli L, Boeve BF, Graff-Radford NR, Asmann YW, Dickson DW, Benatar M, Bowser R, Boylan KB, Rademakers R, van Blitterswijk M. Finch NA, et al. Among authors: brown ph. Neurol Genet. 2017 Jun 7;3(4):e161. doi: 10.1212/NXG.0000000000000161. eCollection 2017 Aug. Neurol Genet. 2017. PMID: 28660252 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. Among authors: brown ph. 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.
348 results