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A Swedish family with de novo alpha-synuclein A53T mutation: evidence for early cortical dysfunction.
Puschmann A, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Lindquist SG, Nielsen JE, Wszolek ZK, Farrer M, Widner H, van Westen D, Hägerström D, Markopoulou K, Chase BA, Nilsson K, Reimer J, Nilsson C. Puschmann A, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2009 Nov;15(9):627-32. doi: 10.1016/j.parkreldis.2009.06.007. Epub 2009 Jul 25. Parkinsonism Relat Disord. 2009. PMID: 19632874 Free PMC article.
First neuropathological description of a patient with Parkinson's disease and LRRK2 p.N1437H mutation.
Puschmann A, Englund E, Ross OA, Vilariño-Güell C, Lincoln SJ, Kachergus JM, Cobb SA, Törnqvist AL, Rehncrona S, Widner H, Wszolek ZK, Farrer MJ, Nilsson C. Puschmann A, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2012 May;18(4):332-8. doi: 10.1016/j.parkreldis.2011.11.019. Epub 2011 Dec 6. Parkinsonism Relat Disord. 2012. PMID: 22154298 Free PMC article.
LINGO1 rs9652490 is associated with essential tremor and Parkinson disease.
Vilariño-Güell C, Ross OA, Wider C, Jasinska-Myga B, Cobb SA, Soto-Ortolaza AI, Kachergus JM, Keeling BH, Dachsel JC, Melrose HL, Behrouz B, Wszolek ZK, Uitti RJ, Aasly JO, Rajput A, Farrer MJ. Vilariño-Güell C, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2010 Feb;16(2):109-11. doi: 10.1016/j.parkreldis.2009.08.006. Epub 2009 Aug 31. Parkinsonism Relat Disord. 2010. PMID: 19720553 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.
Genetic variation of the mitochondrial complex I subunit NDUFV2 and Parkinson's disease.
Nishioka K, Vilariño-Güell C, Cobb SA, Kachergus JM, Ross OA, Hentati E, Hentati F, Farrer MJ. Nishioka K, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2010 Dec;16(10):686-7. doi: 10.1016/j.parkreldis.2010.09.007. Epub 2010 Oct 23. Parkinsonism Relat Disord. 2010. PMID: 20971673 Free PMC article.
EIF4G1 gene mutations are not a common cause of Parkinson's disease in the Japanese population.
Nishioka K, Funayama M, Vilariño-Güell C, Ogaki K, Li Y, Sasaki R, Kokubo Y, Kuzuhara S, Kachergus JM, Cobb SA, Takahashi H, Mizuno Y, Farrer MJ, Ross OA, Hattori N. Nishioka K, et al. Among authors: kachergus jm. Parkinsonism Relat Disord. 2014 Jun;20(6):659-61. doi: 10.1016/j.parkreldis.2014.03.004. Epub 2014 Mar 18. Parkinsonism Relat Disord. 2014. PMID: 24704100 Free PMC article.
Lrrk2 pathogenic substitutions in Parkinson's disease.
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ. Mata IF, et al. Among authors: kachergus jm. Neurogenetics. 2005 Dec;6(4):171-7. doi: 10.1007/s10048-005-0005-1. Epub 2005 Sep 17. Neurogenetics. 2005. PMID: 16172858
Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease.
Aasly JO, Vilariño-Güell C, Dachsel JC, Webber PJ, West AB, Haugarvoll K, Johansen KK, Toft M, Nutt JG, Payami H, Kachergus JM, Lincoln SJ, Felic A, Wider C, Soto-Ortolaza AI, Cobb SA, White LR, Ross OA, Farrer MJ. Aasly JO, et al. Among authors: kachergus jm. Mov Disord. 2010 Oct 15;25(13):2156-63. doi: 10.1002/mds.23265. Mov Disord. 2010. PMID: 20669305 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.
76 results