Parkinson Disease Mutation Database

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Pals P, Lincoln S, Manning J, Heckman M, Skipper L, Hulihan M, Van den Broeck M, De Pooter T, Cras P, Crook J, Van Broeckhoven C, Farrer MJ.. alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol 56: 591-5, 2004 (PubMed ID: 15455394)

Mutations

SNCA: (c.*893C>T)

ID: 437

Mueller JC, Fuchs J, Hofer A, Zimprich A, Lichtner P, Illig T, Berg D, Wüllner U, Meitinger T, Gasser T.. Multiple regions of alpha-synuclein are associated with Parkinson's disease. Ann Neurol 57: 535-41, 2005 (PubMed ID: 15786467)

Mutations

SNCA: (c.*893C>T)

ID: 432

Mizuta I, Satake W, Nakabayashi Y, Ito C, Suzuki S, Momose Y, Nagai Y, Oka A, Inoko H, Fukae J, Saito Y, Sawabe M, Murayama S, Yamamoto M, Hattori N, Murata M, Toda T.. Multiple candidate gene analysis identifies alpha-synuclein as a susceptibility gene for sporadic Parkinson's disease. Hum Mol Genet 15: 1151-8, 2006 (PubMed ID: 16500997)

Mutations

SNCA: (c.*893C>T)

ID: 431

Ross OA, Gosal D, Stone JT, Lincoln SJ, Heckman MG, Irvine GB, Johnston JA, Gibson JM, Farrer MJ, Lynch T.. Familial genes in sporadic disease: common variants of alpha-synuclein gene associate with Parkinson's disease. Mech Ageing Dev 128: 378-82, 2007 (PubMed ID: 17531291)

Mutations

SNCA: (c.*893C>T)

ID: 434

Winkler S, Hagenah J, Lincoln S, Heckman M, Haugarvoll K, Lohmann-Hedrich K, Kostic V, Farrer M, Klein C.. alpha-Synuclein and Parkinson disease susceptibility. Neurology 69: 1745-50, 2007 (PubMed ID: 17872362)

Mutations

SNCA: (c.*893C>T)

ID: 435

Myhre R, Toft M, Kachergus J, Hulihan MM, Aasly JO, Klungland H, Farrer MJ.. Multiple alpha-synuclein gene polymorphisms are associated with Parkinson's disease in a Norwegian population. Acta Neurol Scand 118: 320-7, 2008 (PubMed ID: 18485051)

Mutations

SNCA: (c.*893C>T)

ID: 433

Rajput A, Vilariño-Güell C, Rajput ML, Ross OA, Soto-Ortolaza AI, Lincoln SJ, Cobb SA, Heckman MG, Farrer MJ, Rajput A.. Alpha-synuclein polymorphisms are associated with Parkinson's disease in a Saskatchewan population. Mov Disord 24: 2411-4, 2009 (PubMed ID: 19890971)

Mutations

SNCA: (c.*893C>T)

ID: 436

Hu FY, Hu WB, Liu L, Yu LH, Xi J, He XH, Zhu MR, Liu ZL, Xu YM.. Lack of replication of a previously reported association between polymorphism in the 3'UTR of the alpha-synuclein gene and Parkinson's disease in Chinese subjects. Neurosci Lett 479: 31-3, 2010 (PubMed ID: 20478361)

Mutations

SNCA: (c.*893C>T)

ID: 438


Mutation color legend:
Red: mutation is pathogenic
Orange: pathogenic nature is unclear
Green: mutation is not pathogenic



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