메뉴 건너뛰기




Volumn 65, Issue 7-8, 2012, Pages 239-242

The absence of the common LRRK2 G2019S mutation in 120 young onset Hungarian Parkinon's disease patients;Az LRRK2 gyakori G2019S-mutációjának hiánya 120, korai kezdetu magyar Parkinson-beteg esetében

Author keywords

Common mutation; Gen test; Genetics; LRRK2; Parkinson disease

Indexed keywords

LEUCINE RICH REPEAT KINASE 2;

EID: 84865469159     PISSN: 00191442     EISSN: None     Source Type: Journal    
DOI: None     Document Type: Article
Times cited : (2)

References (21)
  • 1
    • 0033857138 scopus 로고    scopus 로고
    • Epidemiology of Parkinson's disease and akinetic syndromes
    • Tanner CM, Aston DA. Epidemiology of Parkinson's disease and akinetic syndromes. Curr Opin Neurol 2000;13(4):427-30.
    • (2000) Curr Opin Neurol , vol.13 , Issue.4 , pp. 427-430
    • Tanner, C.M.1    Aston, D.A.2
  • 2
    • 0034643838 scopus 로고    scopus 로고
    • Prevalence of Parkinson's disease in Europe: A collaborative study of population-based cohorts
    • Neurologic Diseases in the Elderly Research Group
    • de Rijk MC, Launer LJ, Berger K, Breteler MM, Dartigues JF, Baldereschi M. Prevalence of Parkinson's disease in Europe: A collaborative study of population-based cohorts. Neurologic Diseases in the Elderly Research Group. Neurology 2000;54(11 Suppl 5):S21-3.
    • (2000) Neurology , vol.54 , Issue.11 SUPPL. 5
    • De Rijk, M.C.1    Launer, L.J.2    Berger, K.3    Breteler, M.M.4    Dartigues, J.F.5    Baldereschi, M.6
  • 3
    • 15244344237 scopus 로고    scopus 로고
    • Parkinson's disease risk factors: Genetic, environmental, or both?
    • Allam MF, Del Castillo AS, Navajas RF. Parkinson's disease risk factors: genetic, environmental, or both? Neurol Res 2005;27(2):206-8.
    • (2005) Neurol Res , vol.27 , Issue.2 , pp. 206-208
    • Allam, M.F.1    Del Castillo, A.S.2    Navajas, R.F.3
  • 4
    • 63149090431 scopus 로고    scopus 로고
    • Parkinson's disease: From monogenic forms to genetic susceptibility factors
    • Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009;18(R1):R48-59.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Lesage, S.1    Brice, A.2
  • 5
    • 0036196860 scopus 로고    scopus 로고
    • A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
    • Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S, Obata F. A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 2002;51(3):296-301.
    • (2002) Ann Neurol , vol.51 , Issue.3 , pp. 296-301
    • Funayama, M.1    Hasegawa, K.2    Kowa, H.3    Saito, M.4    Tsuji, S.5    Obata, F.6
  • 6
    • 70450194705 scopus 로고    scopus 로고
    • Hereditary parkinsonism: Parkinson disease look-alikes - An algorithm for clinicians to "PARK" genes and beyond
    • Klein C, Schneider SA, Lang AE. Hereditary parkinsonism: Parkinson disease look-alikes - an algorithm for clinicians to "PARK" genes and beyond. Mov Disord 2009;24(14):2042-58.
    • (2009) Mov Disord , vol.24 , Issue.14 , pp. 2042-2058
    • Klein, C.1    Schneider, S.A.2    Lang, A.E.3
  • 7
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
    • Healy DG, Falchi M, O'Sullivan SS et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 2008;7(7):583-90.
    • (2008) Lancet Neurol , vol.7 , Issue.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3
  • 8
    • 33646271123 scopus 로고    scopus 로고
    • Parkinson's disease and LRRK2: Frequency of a common mutation in U.S. movement disorder clinics
    • Kay DM, Zabetian CP, Factor SA et al. Parkinson's disease and LRRK2: frequency of a common mutation in U.S. movement disorder clinics. Mov Disord 2006;21(4):519-23.
    • (2006) Mov Disord , vol.21 , Issue.4 , pp. 519-523
    • Kay, D.M.1    Zabetian, C.P.2    Factor, S.A.3
  • 9
    • 34248373840 scopus 로고    scopus 로고
    • Establishing a neurological-psychiatric biobank: Banking, informatics, ethics
    • Molnar MJ, Bencsik P. Establishing a neurological-psychiatric biobank: banking, informatics, ethics. Cell Immunol 2006;244(2):101-4.
    • (2006) Cell Immunol , vol.244 , Issue.2 , pp. 101-104
    • Molnar, M.J.1    Bencsik, P.2
  • 10
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
    • Zimprich A, Biskup S, Leitner P et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44(4):601-7.
    • (2004) Neuron , vol.44 , Issue.4 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 11
    • 63149090431 scopus 로고    scopus 로고
    • Parkinson's disease: From monogenic forms to genetic susceptibility factors
    • Lesage S, Brice A. Parkinson's disease: from monogenic forms to genetic susceptibility factors. Hum Mol Genet 2009;18(R1):R48-59.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Lesage, S.1    Brice, A.2
  • 12
    • 77957043835 scopus 로고    scopus 로고
    • Frequency of known mutations in early-onset Parkinson disease: Implication for genetic counseling: The consortium on risk for early onset Parkinson disease study
    • Alcalay RN, Caccappolo E, Mejia-Santana H et al. Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling: the consortium on risk for early onset Parkinson disease study. Arch Neurol 2010;67(9):1116-22.
    • (2010) Arch Neurol , vol.67 , Issue.9 , pp. 1116-1122
    • Alcalay, R.N.1    Caccappolo, E.2    Mejia-Santana, H.3
  • 14
    • 70449474155 scopus 로고    scopus 로고
    • The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews
    • Thaler A, Ash E, Gan-Or Z, Orr-Urtreger A, Giladi N. The LRRK2 G2019S mutation as the cause of Parkinson's disease in Ashkenazi Jews. J Neural Transm 2009;116(11):1473-82.
    • (2009) J Neural Transm , vol.116 , Issue.11 , pp. 1473-1482
    • Thaler, A.1    Ash, E.2    Gan-Or, Z.3    Orr-Urtreger, A.4    Giladi, N.5
  • 15
    • 47549093400 scopus 로고    scopus 로고
    • Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening
    • Clarimón J, Pagonabarraga J, Paisán-Ruíz C et al. Tremor dominant parkinsonism: Clinical description and LRRK2 mutation screening. Mov Disord 2008;23(4):518-23.
    • (2008) Mov Disord , vol.23 , Issue.4 , pp. 518-523
    • Clarimón, J.1    Pagonabarraga, J.2    Paisán-Ruíz, C.3
  • 17
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • Lücking CB, Dürr A, Bonifati V et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 2000;342(21):1560-7.
    • (2000) N Engl J Med , vol.342 , Issue.21 , pp. 1560-1567
    • Lücking, C.B.1    Dürr, A.2    Bonifati, V.3
  • 19
    • 37249014578 scopus 로고    scopus 로고
    • Molecular pathways and genetic aspects of Parkinson's disease: From bench to bedside
    • Di Napoli M, Shah IM, Stewart DA. Molecular pathways and genetic aspects of Parkinson's disease: from bench to bedside. Expert Rev Neurother 2007;7(12):1693-729.
    • (2007) Expert Rev Neurother , vol.7 , Issue.12 , pp. 1693-1729
    • Di Napoli, M.1    Shah, I.M.2    Stewart, D.A.3
  • 20
    • 28044460070 scopus 로고    scopus 로고
    • Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
    • West AB, Moore DJ, Biskup S et al. Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A 2005;102(46):16842-7.
    • (2005) Proc Natl Acad Sci U S A , vol.102 , Issue.46 , pp. 16842-16847
    • West, A.B.1    Moore, D.J.2    Biskup, S.3
  • 21
    • 72149087091 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's-disease-related mutant alpha-synuclein
    • Lin X, Parisiadou L, Gu XL et al. Leucine-rich repeat kinase 2 regulates the progression of neuropathology induced by Parkinson's-disease-related mutant alpha-synuclein. Neuron 2009;64(6):807-27.
    • (2009) Neuron , vol.64 , Issue.6 , pp. 807-827
    • Lin, X.1    Parisiadou, L.2    Gu, X.L.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.