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Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions.
Van Deerlin VM, Sleiman PM, Martinez-Lage M, Chen-Plotkin A, Wang LS, Graff-Radford NR, Dickson DW, Rademakers R, Boeve BF, Grossman M, Arnold SE, Mann DM, Pickering-Brown SM, Seelaar H, Heutink P, van Swieten JC, Murrell JR, Ghetti B, Spina S, Grafman J, Hodges J, Spillantini MG, Gilman S, Lieberman AP, Kaye JA, Woltjer RL, Bigio EH, Mesulam M, Al-Sarraj S, Troakes C, Rosenberg RN, White CL 3rd, Ferrer I, Lladó A, Neumann M, Kretzschmar HA, Hulette CM, Welsh-Bohmer KA, Miller BL, Alzualde A, Lopez de Munain A, McKee AC, Gearing M, Levey AI, Lah JJ, Hardy J, Rohrer JD, Lashley T, Mackenzie IR, Feldman HH, Hamilton RL, Dekosky ST, van der Zee J, Kumar-Singh S, Van Broeckhoven C, Mayeux R, Vonsattel JP, Troncoso JC, Kril JJ, Kwok JB, Halliday GM, Bird TD, Ince PG, Shaw PJ, Cairns NJ, Morris JC, McLean CA, DeCarli C, Ellis WG, Freeman SH, Frosch MP, Growdon JH, Perl DP, Sano M, Bennett DA, Schneider JA, Beach TG, Reiman EM, Woodruff BK, Cummings J, Vinters HV, Miller CA, Chui HC, Alafuzoff I, Hartikainen P, Seilhean D, Galasko D, Masliah E, Cotman CW, Tuñón MT, Martínez MC, Munoz DG, Carroll SL, Marson D, Riederer PF, Bogdanovic N, Schellenberg GD, Hakonarson H, Trojanowski JQ… See abstract for full author list ➔ Van Deerlin VM, et al. Among authors: kretzschmar ha. Nat Genet. 2010 Mar;42(3):234-9. doi: 10.1038/ng.536. Epub 2010 Feb 14. Nat Genet. 2010. PMID: 20154673 Free PMC article.
Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy.
Höglinger GU, Melhem NM, Dickson DW, Sleiman PM, Wang LS, Klei L, Rademakers R, de Silva R, Litvan I, Riley DE, van Swieten JC, Heutink P, Wszolek ZK, Uitti RJ, Vandrovcova J, Hurtig HI, Gross RG, Maetzler W, Goldwurm S, Tolosa E, Borroni B, Pastor P; PSP Genetics Study Group; Cantwell LB, Han MR, Dillman A, van der Brug MP, Gibbs JR, Cookson MR, Hernandez DG, Singleton AB, Farrer MJ, Yu CE, Golbe LI, Revesz T, Hardy J, Lees AJ, Devlin B, Hakonarson H, Müller U, Schellenberg GD. Höglinger GU, et al. Nat Genet. 2011 Jun 19;43(7):699-705. doi: 10.1038/ng.859. Nat Genet. 2011. PMID: 21685912 Free PMC article.
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.
A new subtype of frontotemporal lobar degeneration with FUS pathology.
Neumann M, Rademakers R, Roeber S, Baker M, Kretzschmar HA, Mackenzie IR. Neumann M, et al. Among authors: kretzschmar ha. Brain. 2009 Nov;132(Pt 11):2922-31. doi: 10.1093/brain/awp214. Epub 2009 Aug 11. Brain. 2009. PMID: 19674978 Free PMC article.
Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy.
Kouri N, Ross OA, Dombroski B, Younkin CS, Serie DJ, Soto-Ortolaza A, Baker M, Finch NCA, Yoon H, Kim J, Fujioka S, McLean CA, Ghetti B, Spina S, Cantwell LB, Farlow MR, Grafman J, Huey ED, Ryung Han M, Beecher S, Geller ET, Kretzschmar HA, Roeber S, Gearing M, Juncos JL, Vonsattel JPG, Van Deerlin VM, Grossman M, Hurtig HI, Gross RG, Arnold SE, Trojanowski JQ, Lee VM, Wenning GK, White CL, Höglinger GU, Müller U, Devlin B, Golbe LI, Crook J, Parisi JE, Boeve BF, Josephs KA, Wszolek ZK, Uitti RJ, Graff-Radford NR, Litvan I, Younkin SG, Wang LS, Ertekin-Taner N, Rademakers R, Hakonarsen H, Schellenberg GD, Dickson DW. Kouri N, et al. Among authors: kretzschmar ha. Nat Commun. 2015 Jun 16;6:7247. doi: 10.1038/ncomms8247. Nat Commun. 2015. PMID: 26077951 Free PMC article.
Ubiquitinated TDP-43 in frontotemporal lobar degeneration and amyotrophic lateral sclerosis.
Neumann M, Sampathu DM, Kwong LK, Truax AC, Micsenyi MC, Chou TT, Bruce J, Schuck T, Grossman M, Clark CM, McCluskey LF, Miller BL, Masliah E, Mackenzie IR, Feldman H, Feiden W, Kretzschmar HA, Trojanowski JQ, Lee VM. Neumann M, et al. Among authors: kretzschmar ha. Science. 2006 Oct 6;314(5796):130-3. doi: 10.1126/science.1134108. Science. 2006. PMID: 17023659
Neuropathological assessments of the pathology in frontotemporal lobar degeneration with TDP43-positive inclusions: an inter-laboratory study by the BrainNet Europe consortium.
Alafuzoff I, Pikkarainen M, Neumann M, Arzberger T, Al-Sarraj S, Bodi I, Bogdanovic N, Bugiani O, Ferrer I, Gelpi E, Gentleman S, Giaccone G, Graeber MB, Hortobagyi T, Ince PG, Ironside JW, Kavantzas N, King A, Korkolopoulou P, Kovács GG, Meyronet D, Monoranu C, Nilsson T, Parchi P, Patsouris E, Revesz T, Roggendorf W, Rozemuller A, Seilhean D, Streichenberger N, Thal DR, Wharton SB, Kretzschmar H. Alafuzoff I, et al. J Neural Transm (Vienna). 2015 Jul;122(7):957-72. doi: 10.1007/s00702-014-1304-1. Epub 2014 Sep 20. J Neural Transm (Vienna). 2015. PMID: 25239189 Free article.
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.
342 results