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Altered network connectivity in frontotemporal dementia with C9orf72 hexanucleotide repeat expansion.
Lee SE, Khazenzon AM, Trujillo AJ, Guo CC, Yokoyama JS, Sha SJ, Takada LT, Karydas AM, Block NR, Coppola G, Pribadi M, Geschwind DH, Rademakers R, Fong JC, Weiner MW, Boxer AL, Kramer JH, Rosen HJ, Miller BL, Seeley WW. Lee SE, et al. Among authors: karydas am. Brain. 2014 Nov;137(Pt 11):3047-60. doi: 10.1093/brain/awu248. Epub 2014 Oct 1. Brain. 2014. PMID: 25273996 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
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. 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.
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. 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.
Clinical, neuroimaging and neuropathological features of a new chromosome 9p-linked FTD-ALS family.
Boxer AL, Mackenzie IR, Boeve BF, Baker M, Seeley WW, Crook R, Feldman H, Hsiung GY, Rutherford N, Laluz V, Whitwell J, Foti D, McDade E, Molano J, Karydas A, Wojtas A, Goldman J, Mirsky J, Sengdy P, Dearmond S, Miller BL, Rademakers R. Boxer AL, et al. J Neurol Neurosurg Psychiatry. 2011 Feb;82(2):196-203. doi: 10.1136/jnnp.2009.204081. Epub 2010 Jun 20. J Neurol Neurosurg Psychiatry. 2011. PMID: 20562461 Free PMC article.
184 results