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Truncated stathmin-2 is a marker of TDP-43 pathology in frontotemporal dementia.
Prudencio M, Humphrey J, Pickles S, Brown AL, Hill SE, Kachergus JM, Shi J, Heckman MG, Spiegel MR, Cook C, Song Y, Yue M, Daughrity LM, Carlomagno Y, Jansen-West K, de Castro CF, DeTure M, Koga S, Wang YC, Sivakumar P, Bodo C, Candalija A, Talbot K, Selvaraj BT, Burr K, Chandran S, Newcombe J, Lashley T, Hubbard I, Catalano D, Kim D, Propp N, Fennessey S; NYGC ALS Consortium; Fagegaltier D, Phatnani H, Secrier M, Fisher EM, Oskarsson B, van Blitterswijk M, Rademakers R, Graff-Radford NR, Boeve BF, Knopman DS, Petersen RC, Josephs KA, Thompson EA, Raj T, Ward M, Dickson DW, Gendron TF, Fratta P, Petrucelli L. Prudencio M, et al. Among authors: kachergus jm. J Clin Invest. 2020 Nov 2;130(11):6080-6092. doi: 10.1172/JCI139741. J Clin Invest. 2020. PMID: 32790644 Free PMC article.
Evidence of cerebellar TDP-43 loss of function in FTLD-TDP.
Pickles S, Gendron TF, Koike Y, Yue M, Song Y, Kachergus JM, Shi J, DeTure M, Thompson EA, Oskarsson B, Graff-Radford NR, Boeve BF, Petersen RC, Wszolek ZK, Josephs KA, Dickson DW, Petrucelli L, Cook CN, Prudencio M. Pickles S, et al. Among authors: kachergus jm. Acta Neuropathol Commun. 2022 Jul 25;10(1):107. doi: 10.1186/s40478-022-01408-6. Acta Neuropathol Commun. 2022. PMID: 35879741 Free PMC article.
Elevated methylation levels, reduced expression levels, and frequent contractions in a clinical cohort of C9orf72 expansion carriers.
Jackson JL, Finch NA, Baker MC, Kachergus JM, DeJesus-Hernandez M, Pereira K, Christopher E, Prudencio M, Heckman MG, Thompson EA, Dickson DW, Shah J, Oskarsson B, Petrucelli L, Rademakers R, van Blitterswijk M. Jackson JL, et al. Among authors: kachergus jm. Mol Neurodegener. 2020 Jan 30;15(1):7. doi: 10.1186/s13024-020-0359-8. Mol Neurodegener. 2020. PMID: 32000838 Free PMC article.
Pallidonigral TDP-43 pathology in Perry syndrome.
Wider C, Dickson DW, Stoessl AJ, Tsuboi Y, Chapon F, Gutmann L, Lechevalier B, Calne DB, Personett DA, Hulihan M, Kachergus J, Rademakers R, Baker MC, Grantier LL, Sujith OK, Brown L, Calne S, Farrer MJ, Wszolek ZK. Wider C, et al. Parkinsonism Relat Disord. 2009 May;15(4):281-6. doi: 10.1016/j.parkreldis.2008.07.005. Epub 2008 Aug 23. Parkinsonism Relat Disord. 2009. PMID: 18723384 Free PMC article.
Characterization of DCTN1 genetic variability in neurodegeneration.
Vilariño-Güell C, Wider C, Soto-Ortolaza AI, Cobb SA, Kachergus JM, Keeling BH, Dachsel JC, Hulihan MM, Dickson DW, Wszolek ZK, Uitti RJ, Graff-Radford NR, Boeve BF, Josephs KA, Miller B, Boylan KB, Gwinn K, Adler CH, Aasly JO, Hentati F, Destée A, Krygowska-Wajs A, Chartier-Harlin MC, Ross OA, Rademakers R, Farrer MJ. Vilariño-Güell C, et al. Among authors: kachergus jm. Neurology. 2009 Jun 9;72(23):2024-8. doi: 10.1212/WNL.0b013e3181a92c4c. Neurology. 2009. PMID: 19506225 Free PMC article.
Heterodimerization of Lrrk1-Lrrk2: Implications for LRRK2-associated Parkinson disease.
Dachsel JC, Nishioka K, Vilariño-Güell C, Lincoln SJ, Soto-Ortolaza AI, Kachergus J, Hinkle KM, Heckman MG, Jasinska-Myga B, Taylor JP, Dickson DW, Gibson RA, Hentati F, Ross OA, Farrer MJ. Dachsel JC, et al. Mech Ageing Dev. 2010 Mar;131(3):210-4. doi: 10.1016/j.mad.2010.01.009. Epub 2010 Feb 6. Mech Ageing Dev. 2010. PMID: 20144646 Free PMC article.
Glucocerebrosidase mutations in diffuse Lewy body disease.
Nishioka K, Ross OA, Vilariño-Güell C, Cobb SA, Kachergus JM, Mann DM, Snowden J, Richardson AM, Neary D, Robinson CA, Rajput A, Papapetropoulos S, Mash DC, Pahwa R, Lyons KE, Wszolek ZK, Dickson DW, Farrer MJ. Nishioka K, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2011 Jan;17(1):55-7. doi: 10.1016/j.parkreldis.2010.09.009. Parkinsonism Relat Disord. 2011. PMID: 20971030 Free PMC article.
Glucosidase-beta variations and Lewy body disorders.
Farrer MJ, Williams LN, Algom AA, Kachergus J, Hulihan MM, Ross OA, Rajput A, Papapetropoulos S, Mash DC, Dickson DW. Farrer MJ, et al. Parkinsonism Relat Disord. 2009 Jul;15(6):414-6. doi: 10.1016/j.parkreldis.2008.08.004. Epub 2008 Oct 1. Parkinsonism Relat Disord. 2009. PMID: 18829375 Free PMC article.
76 results