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212 results

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Page 1
C9ORF72 repeat expansions in cases with previously identified pathogenic mutations.
van Blitterswijk M, Baker MC, DeJesus-Hernandez M, Ghidoni R, Benussi L, Finger E, Hsiung GY, Kelley BJ, Murray ME, Rutherford NJ, Brown PE, Ravenscroft T, Mullen B, Ash PE, Bieniek KF, Hatanpaa KJ, Karydas A, Wood EM, Coppola G, Bigio EH, Lippa C, Strong MJ, Beach TG, Knopman DS, Huey ED, Mesulam M, Bird T, White CL 3rd, Kertesz A, Geschwind DH, Van Deerlin VM, Petersen RC, Binetti G, Miller BL, Petrucelli L, Wszolek ZK, Boylan KB, Graff-Radford NR, Mackenzie IR, Boeve BF, Dickson DW, Rademakers R. van Blitterswijk M, et al. Among authors: karydas a. Neurology. 2013 Oct 8;81(15):1332-41. doi: 10.1212/WNL.0b013e3182a8250c. Epub 2013 Sep 11. Neurology. 2013. PMID: 24027057 Free PMC article.
Phenotypic variability associated with progranulin haploinsufficiency in patients with the common 1477C-->T (Arg493X) mutation: an international initiative.
Rademakers R, Baker M, Gass J, Adamson J, Huey ED, Momeni P, Spina S, Coppola G, Karydas AM, Stewart H, Johnson N, Hsiung GY, Kelley B, Kuntz K, Steinbart E, Wood EM, Yu CE, Josephs K, Sorenson E, Womack KB, Weintraub S, Pickering-Brown SM, Schofield PR, Brooks WS, Van Deerlin VM, Snowden J, Clark CM, Kertesz A, Boylan K, Ghetti B, Neary D, Schellenberg GD, Beach TG, Mesulam M, Mann D, Grafman J, Mackenzie IR, Feldman H, Bird T, Petersen R, Knopman D, Boeve B, Geschwind DH, Miller B, Wszolek Z, Lippa C, Bigio EH, Dickson D, Graff-Radford N, Hutton M. Rademakers R, et al. Among authors: karydas am. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
New genes, new dilemmas: FTLD genetics and its implications for families.
Goldman JS, Adamson J, Karydas A, Miller BL, Hutton M. Goldman JS, et al. Among authors: karydas a. Am J Alzheimers Dis Other Demen. 2007 Dec-2008 Jan;22(6):507-15. doi: 10.1177/1533317507306662. Am J Alzheimers Dis Other Demen. 2007. PMID: 18166610 Free PMC article.
A90V TDP-43 variant results in the aberrant localization of TDP-43 in vitro.
Winton MJ, Van Deerlin VM, Kwong LK, Yuan W, Wood EM, Yu CE, Schellenberg GD, Rademakers R, Caselli R, Karydas A, Trojanowski JQ, Miller BL, Lee VM. Winton MJ, et al. Among authors: karydas a. FEBS Lett. 2008 Jun 25;582(15):2252-6. doi: 10.1016/j.febslet.2008.05.024. Epub 2008 May 27. FEBS Lett. 2008. PMID: 18505686 Free PMC article.
Apolipoprotein E epsilon4 is associated with disease-specific effects on brain atrophy in Alzheimer's disease and frontotemporal dementia.
Agosta F, Vossel KA, Miller BL, Migliaccio R, Bonasera SJ, Filippi M, Boxer AL, Karydas A, Possin KL, Gorno-Tempini ML. Agosta F, et al. Among authors: karydas a. Proc Natl Acad Sci U S A. 2009 Feb 10;106(6):2018-22. doi: 10.1073/pnas.0812697106. Epub 2009 Jan 22. Proc Natl Acad Sci U S A. 2009. PMID: 19164761 Free PMC article.
Sporadic corticobasal syndrome due to FTLD-TDP.
Tartaglia MC, Sidhu M, Laluz V, Racine C, Rabinovici GD, Creighton K, Karydas A, Rademakers R, Huang EJ, Miller BL, DeArmond SJ, Seeley WW. Tartaglia MC, et al. Among authors: karydas a. Acta Neuropathol. 2010 Mar;119(3):365-74. doi: 10.1007/s00401-009-0605-1. Epub 2009 Oct 30. Acta Neuropathol. 2010. PMID: 19876635 Free PMC article.
The spectrum of mutations in progranulin: a collaborative study screening 545 cases of neurodegeneration.
Yu CE, Bird TD, Bekris LM, Montine TJ, Leverenz JB, Steinbart E, Galloway NM, Feldman H, Woltjer R, Miller CA, Wood EM, Grossman M, McCluskey L, Clark CM, Neumann M, Danek A, Galasko DR, Arnold SE, Chen-Plotkin A, Karydas A, Miller BL, Trojanowski JQ, Lee VM, Schellenberg GD, Van Deerlin VM. Yu CE, et al. Among authors: karydas a. Arch Neurol. 2010 Feb;67(2):161-70. doi: 10.1001/archneurol.2009.328. Arch Neurol. 2010. PMID: 20142524 Free PMC article.
212 results