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Volumn 20, Issue SUPPL.1, 2014, Pages

Genetic testing of LRRK2 in Parkinson's disease: Is there a clinical role?

Author keywords

Genetic testing; LRRK2; Parkinson's disease

Indexed keywords

LEUCINE RICH REPEAT KINASE 2;

EID: 84887875465     PISSN: 13538020     EISSN: 18735126     Source Type: Journal    
DOI: 10.1016/S1353-8020(13)70015-4     Document Type: Article
Times cited : (7)

References (19)
  • 1
    • 84879506736 scopus 로고    scopus 로고
    • Next-generation sequencing diagnostics for neurological diseases/disorders: from clinical perspective
    • Foo JN, Liu J, Tan EK Next-generation sequencing diagnostics for neurological diseases/disorders: from clinical perspective. Hum Genet 2013, 132(7):721-734.
    • (2013) Hum Genet , vol.132 , Issue.7 , pp. 721-734
    • Foo, J.N.1    Liu, J.2    Tan, E.K.3
  • 2
    • 34447289622 scopus 로고    scopus 로고
    • Pathogenic mutations in Parkinson disease
    • Tan EK, Skipper LM Pathogenic mutations in Parkinson disease. Hum Mutat 2007, 28(7):641-653.
    • (2007) Hum Mutat , vol.28 , Issue.7 , pp. 641-653
    • Tan, E.K.1    Skipper, L.M.2
  • 3
    • 84875277277 scopus 로고    scopus 로고
    • Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations
    • Puschmann A Monogenic Parkinson's disease and parkinsonism: Clinical phenotypes and frequencies of known mutations. Parkinsonism Relat Disord 2013, 19(4):407-415.
    • (2013) Parkinsonism Relat Disord , vol.19 , Issue.4 , pp. 407-415
    • Puschmann, A.1
  • 4
    • 84856463380 scopus 로고    scopus 로고
    • Autosomal recessive parkinsonism
    • Bonifati V Autosomal recessive parkinsonism. Parkinsonism Relat Disord 2012, 18(Suppl 1):S4-S6.
    • (2012) Parkinsonism Relat Disord , vol.18 , Issue.SUPPL 1
    • Bonifati, V.1
  • 5
    • 84858693962 scopus 로고    scopus 로고
    • Genetic variants in sporadic Parkinson's disease: East vs West
    • Peeraully T, Tan EK Genetic variants in sporadic Parkinson's disease: East vs West. Parkinsonism Relat Disord 2012, 18(Suppl 1):S63-S65.
    • (2012) Parkinsonism Relat Disord , vol.18 , Issue.SUPPL 1
    • Peeraully, T.1    Tan, E.K.2
  • 6
    • 19944432606 scopus 로고    scopus 로고
    • Parkinson Study Group-PROGENI investigators, et al., Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
    • Nichols WC, Pankratz N, Hernandez D, Paisán-Ruíz C, Jain S, Halter CA, Parkinson Study Group-PROGENI investigators, et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 2005, 365(9457):410-412.
    • (2005) Lancet , vol.365 , Issue.9457 , pp. 410-412
    • Nichols, W.C.1    Pankratz, N.2    Hernandez, D.3    Paisán-Ruíz, C.4    Jain, S.5    Halter, C.A.6
  • 7
    • 50049104725 scopus 로고    scopus 로고
    • International LRRK2 Consortium, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    • Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S, International LRRK2 Consortium, et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008, 7(7):583-590.
    • (2008) Lancet Neurol , vol.7 , Issue.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3    Bonifati, V.4    Durr, A.5    Bressman, S.6
  • 9
    • 48949092066 scopus 로고    scopus 로고
    • Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease
    • Ross OA, Wu YR, Lee MC, Funayama M, Chen ML, Soto AI, et al. Analysis of Lrrk2 R1628P as a risk factor for Parkinson's disease. Ann Neurol 2008, 64(1):88-92.
    • (2008) Ann Neurol , vol.64 , Issue.1 , pp. 88-92
    • Ross, O.A.1    Wu, Y.R.2    Lee, M.C.3    Funayama, M.4    Chen, M.L.5    Soto, A.I.6
  • 10
    • 33846000636 scopus 로고    scopus 로고
    • Identification of a common genetic risk variant (LRRK2 Gly2385Arg) in Parkinson's disease
    • Tan EK Identification of a common genetic risk variant (LRRK2 Gly2385Arg) in Parkinson's disease. Ann Acad Med Singapore 2006, 35(11):840-842.
    • (2006) Ann Acad Med Singapore , vol.35 , Issue.11 , pp. 840-842
    • Tan, E.K.1
  • 11
    • 66749103174 scopus 로고    scopus 로고
    • EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias
    • Harbo HF, Finsterer J, Baets J, Van Broeckhoven C, Di Donato S, Fontaine B, et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol 2009, 16(7):777-785.
    • (2009) Eur J Neurol , vol.16 , Issue.7 , pp. 777-785
    • Harbo, H.F.1    Finsterer, J.2    Baets, J.3    Van Broeckhoven, C.4    Di Donato, S.5    Fontaine, B.6
  • 13
    • 64149128266 scopus 로고    scopus 로고
    • LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity
    • Gorostidi A, Ruiz-Martinez J, Lopez de Munain A, Alzualde A, Masso JF LRRK2 G2019S and R1441G mutations associated with Parkinson's disease are common in the Basque Country, but relative prevalence is determined by ethnicity. Neurogenetics 2009, 10:157-159.
    • (2009) Neurogenetics , vol.10 , pp. 157-159
    • Gorostidi, A.1    Ruiz-Martinez, J.2    Lopez de Munain, A.3    Alzualde, A.4    Masso, J.F.5
  • 14
    • 84881542891 scopus 로고    scopus 로고
    • Clinicians' attitudes toward general screening of the Ashkenazi-Jewish population for prevalent founder BRCA1/2 and LRRK2 mutations
    • Shkedi-Rafid S, Ofer-Bialer G, Meiner V, Calderon-Margalit R Clinicians' attitudes toward general screening of the Ashkenazi-Jewish population for prevalent founder BRCA1/2 and LRRK2 mutations. Public Health Genomics 2013, 16(4):174-183.
    • (2013) Public Health Genomics , vol.16 , Issue.4 , pp. 174-183
    • Shkedi-Rafid, S.1    Ofer-Bialer, G.2    Meiner, V.3    Calderon-Margalit, R.4
  • 15
    • 80054102810 scopus 로고    scopus 로고
    • Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease
    • Giladi N, Mirelman A, Thaler A, Bar-Shira A, Gurevich T, Orr-Urtreger A Fighting the risk of developing Parkinson's disease; clinical counseling for first degree relatives of patients with Parkinson's disease. J Neurol Sci 2011, 310:17-20.
    • (2011) J Neurol Sci , vol.310 , pp. 17-20
    • Giladi, N.1    Mirelman, A.2    Thaler, A.3    Bar-Shira, A.4    Gurevich, T.5    Orr-Urtreger, A.6
  • 16
    • 80052608877 scopus 로고    scopus 로고
    • Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest
    • Falcone DC, Wood EM, Xie SX, Siderowf A, Van Deerlin VM Genetic testing and Parkinson disease: assessment of patient knowledge, attitudes, and interest. J Genet Couns 2011, 20(4):384-395.
    • (2011) J Genet Couns , vol.20 , Issue.4 , pp. 384-395
    • Falcone, D.C.1    Wood, E.M.2    Xie, S.X.3    Siderowf, A.4    Van Deerlin, V.M.5
  • 17
    • 16244384475 scopus 로고    scopus 로고
    • The psychotherapy of genetics
    • McDaniel SH The psychotherapy of genetics. Family Process 2005, 44(1):25-44.
    • (2005) Family Process , vol.44 , Issue.1 , pp. 25-44
    • McDaniel, S.H.1
  • 18
    • 33846025053 scopus 로고    scopus 로고
    • Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population
    • Tan EK, Lee J, Hunter C, Shinawi L, Fook-Chong S, Jankovic J Comparing knowledge and attitudes towards genetic testing in Parkinson's disease in an American and Asian population. J Neurol Sci 2007, 252:113-120.
    • (2007) J Neurol Sci , vol.252 , pp. 113-120
    • Tan, E.K.1    Lee, J.2    Hunter, C.3    Shinawi, L.4    Fook-Chong, S.5    Jankovic, J.6
  • 19
    • 84880807640 scopus 로고    scopus 로고
    • Direct-to-consumer genetic testing: To test or not to test, that is the question
    • Dandara C, Greenberg J, Lambie L, Lombard Z, Naicker T, Ramesar R, et al. Direct-to-consumer genetic testing: To test or not to test, that is the question. S Afr Med J 2013, 103(8):510-512.
    • (2013) S Afr Med J , vol.103 , Issue.8 , pp. 510-512
    • Dandara, C.1    Greenberg, J.2    Lambie, L.3    Lombard, Z.4    Naicker, T.5    Ramesar, R.6


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.