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C9orf72 intermediate repeats are associated with corticobasal degeneration, increased C9orf72 expression and disruption of autophagy.
Cali CP, Patino M, Tai YK, Ho WY, McLean CA, Morris CM, Seeley WW, Miller BL, Gaig C, Vonsattel JPG, White CL 3rd, Roeber S, Kretzschmar H, Troncoso JC, Troakes C, Gearing M, Ghetti B, Van Deerlin VM, Lee VM, Trojanowski JQ, Mok KY, Ling H, Dickson DW, Schellenberg GD, Ling SC, Lee EB. Cali CP, et al. Acta Neuropathol. 2019 Nov;138(5):795-811. doi: 10.1007/s00401-019-02045-5. Epub 2019 Jul 20. Acta Neuropathol. 2019. PMID: 31327044 Free PMC article.
Pathological TDP-43 distinguishes sporadic amyotrophic lateral sclerosis from amyotrophic lateral sclerosis with SOD1 mutations.
Mackenzie IR, Bigio EH, Ince PG, Geser F, Neumann M, Cairns NJ, Kwong LK, Forman MS, Ravits J, Stewart H, Eisen A, McClusky L, Kretzschmar HA, Monoranu CM, Highley JR, Kirby J, Siddique T, Shaw PJ, Lee VM, Trojanowski JQ. Mackenzie IR, et al. Among authors: kretzschmar ha. Ann Neurol. 2007 May;61(5):427-34. doi: 10.1002/ana.21147. Ann Neurol. 2007. PMID: 17469116
TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions.
Cairns NJ, Neumann M, Bigio EH, Holm IE, Troost D, Hatanpaa KJ, Foong C, White CL 3rd, Schneider JA, Kretzschmar HA, Carter D, Taylor-Reinwald L, Paulsmeyer K, Strider J, Gitcho M, Goate AM, Morris JC, Mishra M, Kwong LK, Stieber A, Xu Y, Forman MS, Trojanowski JQ, Lee VM, Mackenzie IR. Cairns NJ, et al. Among authors: kretzschmar ha. Am J Pathol. 2007 Jul;171(1):227-40. doi: 10.2353/ajpath.2007.070182. Am J Pathol. 2007. PMID: 17591968 Free PMC article.
Concomitant TAR-DNA-binding protein 43 pathology is present in Alzheimer disease and corticobasal degeneration but not in other tauopathies.
Uryu K, Nakashima-Yasuda H, Forman MS, Kwong LK, Clark CM, Grossman M, Miller BL, Kretzschmar HA, Lee VM, Trojanowski JQ, Neumann M. Uryu K, et al. Among authors: kretzschmar ha. J Neuropathol Exp Neurol. 2008 Jun;67(6):555-64. doi: 10.1097/NEN.0b013e31817713b5. J Neuropathol Exp Neurol. 2008. PMID: 18520774 Free PMC article.
342 results