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Novel mutation in MAPT exon 13 (p.N410H) causes corticobasal degeneration.
Kouri N, Carlomagno Y, Baker M, Liesinger AM, Caselli RJ, Wszolek ZK, Petrucelli L, Boeve BF, Parisi JE, Josephs KA, Uitti RJ, Ross OA, Graff-Radford NR, DeTure MA, Dickson DW, Rademakers R. Kouri N, et al. Among authors: carlomagno y. Acta Neuropathol. 2014 Feb;127(2):271-82. doi: 10.1007/s00401-013-1193-7. Acta Neuropathol. 2014. PMID: 24121548 Free PMC article.
Robust cytoplasmic accumulation of phosphorylated TDP-43 in transgenic models of tauopathy.
Clippinger AK, D'Alton S, Lin WL, Gendron TF, Howard J, Borchelt DR, Cannon A, Carlomagno Y, Chakrabarty P, Cook C, Golde TE, Levites Y, Ranum L, Schultheis PJ, Xu G, Petrucelli L, Sahara N, Dickson DW, Giasson B, Lewis J. Clippinger AK, et al. Among authors: carlomagno y. Acta Neuropathol. 2013 Jul;126(1):39-50. doi: 10.1007/s00401-013-1123-8. Epub 2013 May 11. Acta Neuropathol. 2013. PMID: 23666556 Free PMC article.
Acetylation: a new key to unlock tau's role in neurodegeneration.
Cook C, Stankowski JN, Carlomagno Y, Stetler C, Petrucelli L. Cook C, et al. Among authors: carlomagno y. Alzheimers Res Ther. 2014 May 29;6(3):29. doi: 10.1186/alzrt259. eCollection 2014. Alzheimers Res Ther. 2014. PMID: 25031639 Free PMC article. Review.
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: carlomagno y. 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.
Tau deposition drives neuropathological, inflammatory and behavioral abnormalities independently of neuronal loss in a novel mouse model.
Cook C, Kang SS, Carlomagno Y, Lin WL, Yue M, Kurti A, Shinohara M, Jansen-West K, Perkerson E, Castanedes-Casey M, Rousseau L, Phillips V, Bu G, Dickson DW, Petrucelli L, Fryer JD. Cook C, et al. Among authors: carlomagno y. Hum Mol Genet. 2015 Nov 1;24(21):6198-212. doi: 10.1093/hmg/ddv336. Epub 2015 Aug 13. Hum Mol Genet. 2015. PMID: 26276810 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. Among authors: carlomagno y. 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.
Spt4 selectively regulates the expression of C9orf72 sense and antisense mutant transcripts.
Kramer NJ, Carlomagno Y, Zhang YJ, Almeida S, Cook CN, Gendron TF, Prudencio M, Van Blitterswijk M, Belzil V, Couthouis J, Paul JW 3rd, Goodman LD, Daughrity L, Chew J, Garrett A, Pregent L, Jansen-West K, Tabassian LJ, Rademakers R, Boylan K, Graff-Radford NR, Josephs KA, Parisi JE, Knopman DS, Petersen RC, Boeve BF, Deng N, Feng Y, Cheng TH, Dickson DW, Cohen SN, Bonini NM, Link CD, Gao FB, Petrucelli L, Gitler AD. Kramer NJ, et al. Among authors: carlomagno y. Science. 2016 Aug 12;353(6300):708-12. doi: 10.1126/science.aaf7791. Science. 2016. PMID: 27516603 Free PMC article.
FTDP-17 with Pick body-like inclusions associated with a novel tau mutation, p.E372G.
Tacik P, DeTure MA, Carlomagno Y, Lin WL, Murray ME, Baker MC, Josephs KA, Boeve BF, Wszolek ZK, Graff-Radford NR, Parisi JE, Petrucelli L, Rademakers R, Isaacson RS, Heilman KM, Petersen RC, Dickson DW, Kouri N. Tacik P, et al. Among authors: carlomagno y. Brain Pathol. 2017 Sep;27(5):612-626. doi: 10.1111/bpa.12428. Epub 2016 Oct 5. Brain Pathol. 2017. PMID: 27529406 Free PMC article.
40 results