| 1 | PARK1, SNCA
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| Parkinson-Associated SNCA Enhancer Variants Revealed by Open Chromatin in Mouse Dopamine Neurons.
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| McClymont SA, Hook PW, Soto AI, Reed X, Law WD, Kerans SJ, Waite EL, Briceno NJ, Thole JF, Heckman MG, Diehl NN, Wszolek ZK, Moore CD, Zhu H, Akiyama JA, Dickel DE, Visel A, Pennacchio LA, Ross OA, Beer MA, McCallion AS.
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| Am J Hum Genet 103(6):874-892. doi: 10.1016/j.ajhg.2018.10.018. Epub 2018 Nov 29.
2018
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| 2 | PARK1, SNCA
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| Familial Parkinson disease-associated mutations alter the site-specific microenvironment and dynamics of α-synuclein.
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| Sahay S, Ghosh D, Dwivedi S, Anoop A, Mohite GM, Kombrabail M, Krishnamoorthy G, Maji SK.
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| J Biol Chem 290(12):7804-22. doi: 10.1074/jbc.M114.598607. Epub 2015 Jan 29.
2015
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| 3 | PARK1, PARK4, SNCA
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| Alpha-synuclein gene rearrangements in dominantly inherited parkinsonism: frequency, phenotype, and mechanisms.
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| Ibáñez P, Lesage S, Janin S, Lohmann E, Durif F, Destée A, Bonnet AM, Brefel-Courbon C, Heath S, Zelenika D, Agid Y, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group.
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| Arch Neurol 66(1):102-8.
2009
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| 4 | PARK1, SNCA
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| Patients homozygous and heterozygous for SNCA duplication in a family with parkinsonism and dementia.
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| Ikeuchi T, Kakita A, Shiga A, Kasuga K, Kaneko H, Tan CF, Idezuka J, Wakabayashi K, Onodera O, Iwatsubo T, Nishizawa M, Takahashi H, Ishikawa A.
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| Arch Neurol 65(4):514-9.PMID: 18413475 2008
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| 5 | DYT3, FTDP17, FTDU17, FXTAS, LRRK2, MAPT, PARK1, PARK4, PARK5, PARK6, PARK7, PARK8, PINK1, PRKN, PSRP, SNCA, UCHL1
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| Genetics of Parkinson disease: paradigm shifts and future prospects.
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| Farrer MJ.
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| Nat Rev Genet 7(4):306-18. 2006
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| 6 | SNCA, PARK1
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| Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease.
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| Nishioka K, Hayashi S, Farrer MJ, Singleton AB, Yoshino H, Imai H, Kitami T, Sato K, Kuroda R, Tomiyama H, Mizoguchi K, Murata M, Toda T, Imoto I, Inazawa J, Mizuno Y, Hattori N.
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| Ann Neurol 59(2):298-309. 2006
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| 7 | PARK1, PARK3, PARK4, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Molecular pathogenesis of Parkinson's disease.
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| Gandhi S, Wood NW.
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| Hum Mol Genet 14(18):2749-55. Epub 2005 Aug 26. 2005
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| 8 | SNCA, PARK1
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| Endoplasmic reticulum stress and mitochondrial cell death pathways mediate A53T mutant alpha-synuclein-induced toxicity.
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| Smith WW, Jiang H, Pei Z, Tanaka Y, Morita H, Sawa A, Dawson VL, Dawson TM, Ross CA.
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| Hum Mol Genet 14(24):3801-11. Epub 2005 Oct 20. 2005
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| 9 | PARK1, SNCA
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| Alpha-synuclein locus duplication as a cause of familial Parkinson's disease.
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| Chartier-Harlin MC, Kachergus J, Roumier C, Mouroux V, Douay X, Lincoln S, Levecque C, Larvor L, Andrieux J, Hulihan M, Waucquier N, Defebvre L, Amouyel P, Farrer M, Destée A.
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| Lancet 364(9440):1167-9.
2004
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| 10 | PARK1, PARK10, PARK11, PARK3, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Parkin genetics: one model for Parkinson's disease.
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| Mata IF, Lockhart PJ, Farrer MJ.
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| Hum Mol Genet 13 Spec No 1:R127-33. Epub 2004 Feb 19. 2004
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| 11 | AD1, AD2, AD3, AD4, AD5, AD6, AD9, PARK1, PARK11, PARK3, PARK4, PARK5, PARK6, PARK7, PARK8, PARK9, PRKN
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| Chasing genes in Alzheimer's and Parkinson's disease.
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| Bertoli-Avella AM, Oostra BA, Heutink P.
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| Hum Genet 114(5):413-38. Epub 2004 Mar 04. 2004
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| 12 | SNCA, PARk1
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| alpha-Synuclein regulation of the dopaminergic transporter: a possible role in the pathogenesis of Parkinson's disease.
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| Sidhu A, Wersinger C, Vernier P.
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| FEBS Lett 565(1-3):1-5. Review. 2004
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| 13 | PARK1, PARK3
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| Search for the PARK3 founder haplotype in a large cohort of patients with Parkinson's disease from northern Germany.
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| Klein C, Vieregge P, Hagenah J, Sieberer M, Doyle E, Jacobs H, Gasser T, Breakefield XO, Risch NJ, Ozelius LJ.
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| Hum Genet 106:285-291 2000
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| 14 | PARK1, PARK3, PARK4, PRKN, UCHL1
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| Progress in the clinical and molecular genetics of familial parkinsonism.
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| Kitada T, Asakawa S, Matsumine H, Hattori N, Shimura H, Minoshima S, Shimizu N, Mizuno Y.
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| Neurogenetics 2(4):207-18. 2000
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| 15 | PARK1
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| Polymorphism in the parkin gene in sporadic Parkinson's disease.
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| Wang M, et al.
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| Ann Neurol 45(5):655-8. 1999
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| 16 | PARK1, SNCA
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| Genetic analysis of families with Parkinson disease that carry the Ala53Thr mutation in the gene encoding alpha-synuclein.
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| Athanassiadou A, et al.
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| Am J Hum Genet 65(2):555-8. No abstract available 1999
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| 17 | PARK1, PARK3, SNCA
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| The genetics of disorders with synuclein pathology and parkinsonism.
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| Farrer M, Gwinn-Hardy K, Hutton M, Hardy J.
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| Hum Mol Genet 8(10 REVIEW ISSUE):1901-5 1999
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| 18 | PARK1, SNCA
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| Ala30Pro mutation in the gene encoding alpha-synuclein in Parkinson's disease.
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| Kruger R, Kuhn W, Muller T, Woitalla D, Graeber M, Kosel S, Przuntek H, Epplen JT, Schols L, Riess O.
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| Nat Genet 18(2):106-8. 1998
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| 19 | PARK1, SNCA
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| Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations.
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| Vaughan JR, et al.
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| Hum Mol Genet 7 : 751-753. 1998
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| 20 | PARK1
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| Failure to find the alpha-synuclein gene missense mutation (G209A) in 100 patients with younger onset Parkinson's disease.
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| Chan P, Tanner CM, Jiang X, Langston JW.
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| Neurology 50(2):513-4. 1998
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| 21 | PARK1
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| Low frequency of alpha-synuclein mutations in familial Parkinson's disease.
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| Farrer M, et al.
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| Ann Neurol 43 : 394-397. 1998
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| 22 | PARK1, SNCA
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| Contig map of the Parkinson's disease region on 4q21-q23.
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| Lavedan C, et al.
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| DNA Res 5 : 19-23. 1998
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| 23 | PARK1, SNCA
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| Alpha-synuclein in filamentous inclusions of lewy bodies from Parkinson's disease and dementia with Lewy bodies.
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| Spillantini GM, et al.
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| Proc Natl Acad Sci U S A 95 : 6469-6473. 1998
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| 24 | PARK1, SNCA
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| The alpha-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease : a study of 230 European cases. European Consortium on genetic susceptibility in Parkinson's disease.
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| Vaughan J, et al.
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| Ann Neurol 44 : 270-273. 1998
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| 25 | PARK1, SNCA
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| Binding of alpha-synuclein to brain vesicles is abolished by familial Parkinson's disease mutation.
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| Jensen PH, et al.
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| J Biol Chem 273 : 26292-26294. 1998
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| 26 | PARK1, SNCA
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| Effects of the mutations Ala30 to Pro and Ala53 to Thr on the physical and morphological properties of alpha-synuclein protein implicated in Parkinson's disease.
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| El-Agnaf OM Jakes R, et al.
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| FEBS Lett 440 : 67-70. 1998
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| 27 | PARK1, SNCA
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| The G209A mutation in the alpha-synuclein gene is not detected in familial cases of Parkinson disease in non-Greek and/or Italian populations.
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| Wang WW, et al.
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| Arch Neurol 55 : 1521-1523. 1998
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| 28 | PARK1, SNCA
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| Mutation screening in exons 3 and 4 of alpha-synuclein in sporadic Parkinson's and sporadic and familial dementia with Lewy bodies cases.
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| El-Agnaf OM, et al.
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| Neuroreport 9(17):3925-7. 1998
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| 29 | PARK1, SNCA
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| Mutation in the alpha-synuclein gene identified in families with Parkinson's disease.
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| Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL.
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| Science 276(5321):2045-7. 1997
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| 30 | PARK1, SNCA
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| Identification of Spanish familial Parkinson's disease and screening for the Ala53Thr mutation of the alpha-synuclein gene in early onset patients.
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| Munoz E, Oliva R, Obach V, Marti MJ, Pastor P, Ballesta F, Tolosa E.
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| Neurosci Lett 235(1-2):57-60. 1997
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| 31 | FTDP17,PARK1
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| Mapping of a gene for Parkinson's disease to chromosome 4q21-q23.
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| Polymeropoulos MH, et al.
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| Science 274 : 1197-1199. 1996
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