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Volumn 20, Issue SUPPL.1, 2014, Pages

Genetics of Parkinson's disease: The yield

Author keywords

Molecular mechanisms; Monogenic forms; Parkinson; Risk genes

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; LEVODOPA;

EID: 84887934289     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/S1353-8020(13)70011-7     Document Type: Article
Times cited : (107)

References (30)
  • 1
    • 78649389313 scopus 로고    scopus 로고
    • The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease
    • Cookson MR The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nat Rev Neurosci 2010, 11(12):791-797.
    • (2010) Nat Rev Neurosci , vol.11 , Issue.12 , pp. 791-797
    • Cookson, M.R.1
  • 2
    • 80052967403 scopus 로고    scopus 로고
    • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    • Ross OA, Soto-Ortolaza AI, Heckman MG, Aasly JO, Abahuni N, Annesi G, et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 2011, 10:898-908.
    • (2011) Lancet Neurol , vol.10 , pp. 898-908
    • Ross, O.A.1    Soto-Ortolaza, A.I.2    Heckman, M.G.3    Aasly, J.O.4    Abahuni, N.5    Annesi, G.6
  • 3
    • 80051505298 scopus 로고    scopus 로고
    • Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers
    • Marras C, Schüle B, Munhoz RP, Rogaeva E, Langston JW, Kasten M, et al. Phenotype in parkinsonian and nonparkinsonian LRRK2 G2019S mutation carriers. Neurology 2011, 77(4):325-333.
    • (2011) Neurology , vol.77 , Issue.4 , pp. 325-333
    • Marras, C.1    Schüle, B.2    Munhoz, R.P.3    Rogaeva, E.4    Langston, J.W.5    Kasten, M.6
  • 6
    • 77449098331 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation
    • Wider C, Dickson DW, Wszolek ZK Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. Neurodegener Dis 2010, 7:175-179.
    • (2010) Neurodegener Dis , vol.7 , pp. 175-179
    • Wider, C.1    Dickson, D.W.2    Wszolek, Z.K.3
  • 8
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 2011, 89(1):168-175.
    • (2011) Am J Hum Genet , vol.89 , Issue.1 , pp. 168-175
    • Zimprich, A.1    Benet-Pagès, A.2    Struhal, W.3    Graf, E.4    Eck, S.H.5    Offman, M.N.6
  • 14
    • 84871040502 scopus 로고    scopus 로고
    • Early-onset autosomal-recessive parkinsonian-pyramidal syndrome
    • Lai HJ, Lin CH, Wu RM Early-onset autosomal-recessive parkinsonian-pyramidal syndrome. Acta Neurol Taiwan 2012, 21(3):99-107.
    • (2012) Acta Neurol Taiwan , vol.21 , Issue.3 , pp. 99-107
    • Lai, H.J.1    Lin, C.H.2    Wu, R.M.3
  • 16
    • 33745553895 scopus 로고    scopus 로고
    • PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron
    • Morgan NV, Westaway SK, Morton JE, Gregory A, Gissen P, Sonek S, et al. PLA2G6, encoding a phospholipase A2, is mutated in neurodegenerative disorders with high brain iron. Nat Genet 2006, 38:752-754.
    • (2006) Nat Genet , vol.38 , pp. 752-754
    • Morgan, N.V.1    Westaway, S.K.2    Morton, J.E.3    Gregory, A.4    Gissen, P.5    Sonek, S.6
  • 18
    • 84865064424 scopus 로고    scopus 로고
    • Identification of novel ATP13A2 interactors and their role in alpha-synuclein misfolding and toxicity
    • Usenovic M, Knight AL, Ray A, Wong V, Brown KR, Caldwell GA, et al. Identification of novel ATP13A2 interactors and their role in alpha-synuclein misfolding and toxicity. Hum Mol Genet 2012, 21:3785-3794.
    • (2012) Hum Mol Genet , vol.21 , pp. 3785-3794
    • Usenovic, M.1    Knight, A.L.2    Ray, A.3    Wong, V.4    Brown, K.R.5    Caldwell, G.A.6
  • 20
    • 21644483621 scopus 로고    scopus 로고
    • Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells
    • Balsinde J, Balboa MA Cellular regulation and proposed biological functions of group VIA calcium-independent phospholipase A2 in activated cells. Cell Signal 2005, 17:1052-1062.
    • (2005) Cell Signal , vol.17 , pp. 1052-1062
    • Balsinde, J.1    Balboa, M.A.2
  • 21
    • 84860487766 scopus 로고    scopus 로고
    • A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
    • Edvardson S, Cinnamon Y, Ta-Shma A, Shaag A, Yim YI, Zenvirt S, et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One 2012, 7(5):e36458.
    • (2012) PLoS One , vol.7 , Issue.5
    • Edvardson, S.1    Cinnamon, Y.2    Ta-Shma, A.3    Shaag, A.4    Yim, Y.I.5    Zenvirt, S.6
  • 22
    • 78650550275 scopus 로고    scopus 로고
    • UK Parkinson's Disease Consortium, Wellcome Trust Case Control Consortium 2, Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21
    • UK Parkinson's Disease Consortium, Wellcome Trust Case Control Consortium 2, Spencer CC, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G, et al. Dissection of the genetics of Parkinson's disease identifies an additional association 5' of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 2011, 20(2):345-353.
    • (2011) Hum Mol Genet , vol.20 , Issue.2 , pp. 345-353
    • Spencer, C.C.1    Plagnol, V.2    Strange, A.3    Gardner, M.4    Paisan-Ruiz, C.5    Band, G.6
  • 23
    • 34548770783 scopus 로고    scopus 로고
    • LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease
    • Bonifati V LRRK2 low-penetrance mutations (Gly2019Ser) and risk alleles (Gly2385Arg)-linking familial and sporadic Parkinson's disease. Neurochem Res 2007, 32:1700-1708.
    • (2007) Neurochem Res , vol.32 , pp. 1700-1708
    • Bonifati, V.1
  • 24
    • 33746869343 scopus 로고    scopus 로고
    • Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
    • Maraganore DM, de Andrade M, Elbaz A, Farrer MJ, Ioannidis JP, Krüger R, et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. JAMA 2006, 296(6):661-670.
    • (2006) JAMA , vol.296 , Issue.6 , pp. 661-670
    • Maraganore, D.M.1    de Andrade, M.2    Elbaz, A.3    Farrer, M.J.4    Ioannidis, J.P.5    Krüger, R.6
  • 27
    • 84858144224 scopus 로고    scopus 로고
    • Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
    • Anheim M, Elbaz A, Lesage S, Durr A, Condroyer C, Viallet F, et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 2012, 78(6):417-420.
    • (2012) Neurology , vol.78 , Issue.6 , pp. 417-420
    • Anheim, M.1    Elbaz, A.2    Lesage, S.3    Durr, A.4    Condroyer, C.5    Viallet, F.6
  • 28
    • 84874307778 scopus 로고    scopus 로고
    • Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort
    • Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T, et al. Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain 2013, 136(2):392-399.
    • (2013) Brain , vol.136 , Issue.2 , pp. 392-399
    • Winder-Rhodes, S.E.1    Evans, J.R.2    Ban, M.3    Mason, S.L.4    Williams-Gray, C.H.5    Foltynie, T.6
  • 29
    • 84878911804 scopus 로고    scopus 로고
    • The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease
    • Gan-Or Z, Ozelius LJ, Bar-Shira A, Saunders-Pullman R, Mirelman A, Kornreich R, et al. The p.L302P mutation in the lysosomal enzyme gene SMPD1 is a risk factor for Parkinson disease. Neurology 2013, 80(17):1606-1610.
    • (2013) Neurology , vol.80 , Issue.17 , pp. 1606-1610
    • Gan-Or, Z.1    Ozelius, L.J.2    Bar-Shira, A.3    Saunders-Pullman, R.4    Mirelman, A.5    Kornreich, R.6
  • 30
    • 80655141577 scopus 로고    scopus 로고
    • Evidence for more than one Parkinson's disease-associated variant within the HLA region
    • Hill-Burns EM, Factor SA, Zabetian CP, Thomson G, Payami H Evidence for more than one Parkinson's disease-associated variant within the HLA region. PLoS One 2011, 6(11):e27109.
    • (2011) PLoS One , vol.6 , Issue.11
    • Hill-Burns, E.M.1    Factor, S.A.2    Zabetian, C.P.3    Thomson, G.4    Payami, H.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.