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Pattern of ubiquilin pathology in ALS and FTLD indicates presence of C9ORF72 hexanucleotide expansion.
Brettschneider J, Van Deerlin VM, Robinson JL, Kwong L, Lee EB, Ali YO, Safren N, Monteiro MJ, Toledo JB, Elman L, McCluskey L, Irwin DJ, Grossman M, Molina-Porcel L, Lee VM, Trojanowski JQ. Brettschneider J, et al. Among authors: lee vm, lee eb. Acta Neuropathol. 2012 Jun;123(6):825-39. doi: 10.1007/s00401-012-0970-z. Epub 2012 Mar 18. Acta Neuropathol. 2012. PMID: 22426854 Free PMC article.
Stages of pTDP-43 pathology in amyotrophic lateral sclerosis.
Brettschneider J, Del Tredici K, Toledo JB, Robinson JL, Irwin DJ, Grossman M, Suh E, Van Deerlin VM, Wood EM, Baek Y, Kwong L, Lee EB, Elman L, McCluskey L, Fang L, Feldengut S, Ludolph AC, Lee VM, Braak H, Trojanowski JQ. Brettschneider J, et al. Among authors: lee vm, lee eb. Ann Neurol. 2013 Jul;74(1):20-38. doi: 10.1002/ana.23937. Epub 2013 Jun 19. Ann Neurol. 2013. PMID: 23686809 Free PMC article.
A platform for discovery: The University of Pennsylvania Integrated Neurodegenerative Disease Biobank.
Toledo JB, Van Deerlin VM, Lee EB, Suh E, Baek Y, Robinson JL, Xie SX, McBride J, Wood EM, Schuck T, Irwin DJ, Gross RG, Hurtig H, McCluskey L, Elman L, Karlawish J, Schellenberg G, Chen-Plotkin A, Wolk D, Grossman M, Arnold SE, Shaw LM, Lee VM, Trojanowski JQ. Toledo JB, et al. Among authors: lee vm, lee eb. Alzheimers Dement. 2014 Jul;10(4):477-484.e1. doi: 10.1016/j.jalz.2013.06.003. Epub 2013 Aug 24. Alzheimers Dement. 2014. PMID: 23978324 Free PMC article.
TDP-43 pathology and neuronal loss in amyotrophic lateral sclerosis spinal cord.
Brettschneider J, Arai K, Del Tredici K, Toledo JB, Robinson JL, Lee EB, Kuwabara S, Shibuya K, Irwin DJ, Fang L, Van Deerlin VM, Elman L, McCluskey L, Ludolph AC, Lee VM, Braak H, Trojanowski JQ. Brettschneider J, et al. Among authors: lee vm, lee eb. Acta Neuropathol. 2014 Sep;128(3):423-37. doi: 10.1007/s00401-014-1299-6. Epub 2014 Jun 12. Acta Neuropathol. 2014. PMID: 24916269 Free PMC article.
Hypermethylation of repeat expanded C9orf72 is a clinical and molecular disease modifier.
Russ J, Liu EY, Wu K, Neal D, Suh E, Irwin DJ, McMillan CT, Harms MB, Cairns NJ, Wood EM, Xie SX, Elman L, McCluskey L, Grossman M, Van Deerlin VM, Lee EB. Russ J, et al. Among authors: lee eb. Acta Neuropathol. 2015 Jan;129(1):39-52. doi: 10.1007/s00401-014-1365-0. Epub 2014 Nov 12. Acta Neuropathol. 2015. PMID: 25388784 Free PMC article.
858 results