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Page 1
Clinicopathological concordance and discordance in three monozygotic twin pairs with familial Alzheimer's disease.
Brickell KL, Leverenz JB, Steinbart EJ, Rumbaugh M, Schellenberg GD, Nochlin D, Lampe TH, Holm IE, Van Deerlin V, Yuan W, Bird TD. Brickell KL, et al. Among authors: van deerlin v. J Neurol Neurosurg Psychiatry. 2007 Oct;78(10):1050-5. doi: 10.1136/jnnp.2006.113803. Epub 2007 Jul 5. J Neurol Neurosurg Psychiatry. 2007. PMID: 17615170 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. Lancet Neurol. 2007 Oct;6(10):857-68. doi: 10.1016/S1474-4422(07)70221-1. Lancet Neurol. 2007. PMID: 17826340
TARDBP mutations in amyotrophic lateral sclerosis with TDP-43 neuropathology: a genetic and histopathological analysis.
Van Deerlin VM, Leverenz JB, Bekris LM, Bird TD, Yuan W, Elman LB, Clay D, Wood EM, Chen-Plotkin AS, Martinez-Lage M, Steinbart E, McCluskey L, Grossman M, Neumann M, Wu IL, Yang WS, Kalb R, Galasko DR, Montine TJ, Trojanowski JQ, Lee VM, Schellenberg GD, Yu CE. Van Deerlin VM, et al. Lancet Neurol. 2008 May;7(5):409-16. doi: 10.1016/S1474-4422(08)70071-1. Epub 2008 Apr 7. Lancet Neurol. 2008. PMID: 18396105 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. 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.
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. Arch Neurol. 2010 Feb;67(2):161-70. doi: 10.1001/archneurol.2009.328. Arch Neurol. 2010. PMID: 20142524 Free PMC article.
342 results