Kachergus J - Search Results

1

Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease.

Marx FP, Holzmann C, Strauss KM, Li L, Eberhardt O, Gerhardt E, Cookson MR, Hernandez D, Farrer MJ, Kachergus J, Engelender S, Ross CA, Berger K, Schöls L, Schulz JB, Riess O, Krüger R. Marx FP, et al. Among authors: kachergus j. Hum Mol Genet. 2003 Jun 1;12(11):1223-31. doi: 10.1093/hmg/ddg134. Hum Mol Genet. 2003. PMID: 12761037

2

Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication.

Fuchs J, Nilsson C, Kachergus J, Munz M, Larsson EM, Schüle B, Langston JW, Middleton FA, Ross OA, Hulihan M, Gasser T, Farrer MJ. Fuchs J, et al. Among authors: kachergus j. Neurology. 2007 Mar 20;68(12):916-22. doi: 10.1212/01.wnl.0000254458.17630.c5. Epub 2007 Jan 24. Neurology. 2007. PMID: 17251522

3

Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population.

Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Farrer MJ. Myhre R, et al. Among authors: kachergus j. Acta Neurol Scand. 2008 Nov;118(5):320-7. doi: 10.1111/j.1600-0404.2008.01019.x. Epub 2008 May 15. Acta Neurol Scand. 2008. PMID: 18485051

4

alpha-Synuclein locus triplication causes Parkinson's disease.

Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J, Hulihan M, Peuralinna T, Dutra A, Nussbaum R, Lincoln S, Crawley A, Hanson M, Maraganore D, Adler C, Cookson MR, Muenter M, Baptista M, Miller D, Blancato J, Hardy J, Gwinn-Hardy K. Singleton AB, et al. Among authors: kachergus j. Science. 2003 Oct 31;302(5646):841. doi: 10.1126/science.1090278. Science. 2003. PMID: 14593171 No abstract available.

5

LRRK2 mutations are a common cause of Parkinson's disease in Spain.

Mata IF, Ross OA, Kachergus J, Huerta C, Ribacoba R, Moris G, Blazquez M, Guisasola LM, Salvador C, Martinez C, Farrer M, Alvarez V. Mata IF, et al. Among authors: kachergus j. Eur J Neurol. 2006 Apr;13(4):391-4. doi: 10.1111/j.1468-1331.2006.01256.x. Eur J Neurol. 2006. PMID: 16643318

6

DJ-1 mutations are a rare cause of recessively inherited early onset parkinsonism mediated by loss of protein function.

Lockhart PJ, Lincoln S, Hulihan M, Kachergus J, Wilkes K, Bisceglio G, Mash DC, Farrer MJ. Lockhart PJ, et al. Among authors: kachergus j. J Med Genet. 2004 Mar;41(3):e22. doi: 10.1136/jmg.2003.011106. J Med Genet. 2004. PMID: 14985393 Free PMC article. No abstract available.

7

Clinical and genetic evaluation of 8 Polish families with levodopa-responsive parkinsonism.

Krygowska-Wajs A, Kachergus JM, Hulihan MM, Farrer MJ, Searcy JA, Booij J, Berendse HW, Wolters ECh, Wszolek ZK. Krygowska-Wajs A, et al. Among authors: kachergus jm. J Neural Transm (Vienna). 2005 Nov;112(11):1487-502. doi: 10.1007/s00702-005-0290-8. Epub 2005 Mar 23. J Neural Transm (Vienna). 2005. PMID: 15785861

8

Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease.

Haugarvoll K, Rademakers R, Kachergus JM, Nuytemans K, Ross OA, Gibson JM, Tan EK, Gaig C, Tolosa E, Goldwurm S, Guidi M, Riboldazzi G, Brown L, Walter U, Benecke R, Berg D, Gasser T, Theuns J, Pals P, Cras P, De Deyn PP, Engelborghs S, Pickut B, Uitti RJ, Foroud T, Nichols WC, Hagenah J, Klein C, Samii A, Zabetian CP, Bonifati V, Van Broeckhoven C, Farrer MJ, Wszolek ZK. Haugarvoll K, et al. Among authors: kachergus jm. Neurology. 2008 Apr 15;70(16 Pt 2):1456-60. doi: 10.1212/01.wnl.0000304044.22253.03. Epub 2008 Mar 12. Neurology. 2008. PMID: 18337586 Free PMC article.

9

Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications.

Farrer M, Kachergus J, Forno L, Lincoln S, Wang DS, Hulihan M, Maraganore D, Gwinn-Hardy K, Wszolek Z, Dickson D, Langston JW. Farrer M, et al. Among authors: kachergus j. Ann Neurol. 2004 Feb;55(2):174-9. doi: 10.1002/ana.10846. Ann Neurol. 2004. PMID: 14755720

10

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

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