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Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology.
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S, Kachergus J, Hulihan M, Uitti RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Müller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T. Zimprich A, et al. Among authors: kachergus j. Neuron. 2004 Nov 18;44(4):601-7. doi: 10.1016/j.neuron.2004.11.005. Neuron. 2004. PMID: 15541309 Free article.
The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval.
Zimprich A, Müller-Myhsok B, Farrer M, Leitner P, Sharma M, Hulihan M, Lockhart P, Strongosky A, Kachergus J, Calne DB, Stoessl J, Uitti RJ, Pfeiffer RF, Trenkwalder C, Homann N, Ott E, Wenzel K, Asmus F, Hardy J, Wszolek Z, Gasser T. Zimprich A, et al. Among authors: kachergus j. Am J Hum Genet. 2004 Jan;74(1):11-9. doi: 10.1086/380647. Epub 2003 Dec 19. Am J Hum Genet. 2004. PMID: 14691730 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
Lrrk2 mutations in South America: A study of Chilean Parkinson's disease.
Perez-Pastene C, Cobb SA, Díaz-Grez F, Hulihan MM, Miranda M, Venegas P, Godoy OT, Kachergus JM, Ross OA, Layson L, Farrer MJ, Segura-Aguilar J. Perez-Pastene C, et al. Among authors: kachergus jm. Neurosci Lett. 2007 Jul 18;422(3):193-7. doi: 10.1016/j.neulet.2007.06.021. Epub 2007 Jun 17. Neurosci Lett. 2007. PMID: 17614198 Free PMC article.
Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations.
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M. Kachergus J, et al. Am J Hum Genet. 2005 Apr;76(4):672-80. doi: 10.1086/429256. Epub 2005 Feb 22. Am J Hum Genet. 2005. PMID: 15726496 Free PMC article.
LRRK2 mutations in Parkinson disease.
Farrer M, Stone J, Mata IF, Lincoln S, Kachergus J, Hulihan M, Strain KJ, Maraganore DM. Farrer M, et al. Among authors: kachergus j. Neurology. 2005 Sep 13;65(5):738-40. doi: 10.1212/01.wnl.0000169023.51764.b0. Neurology. 2005. PMID: 16157908
DCTN1 mutations in Perry syndrome.
Farrer MJ, Hulihan MM, Kachergus JM, Dächsel JC, Stoessl AJ, Grantier LL, Calne S, Calne DB, Lechevalier B, Chapon F, Tsuboi Y, Yamada T, Gutmann L, Elibol B, Bhatia KP, Wider C, Vilariño-Güell C, Ross OA, Brown LA, Castanedes-Casey M, Dickson DW, Wszolek ZK. Farrer MJ, et al. Among authors: kachergus jm. Nat Genet. 2009 Feb;41(2):163-5. doi: 10.1038/ng.293. Epub 2009 Jan 11. Nat Genet. 2009. PMID: 19136952 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.
76 results