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Volumn 557, Issue PB, 2013, Pages 165-170

DJ1 analysis in a large cohort of Italian early onset Parkinson Disease patients

Author keywords

DJ1; Early onset Parkinson disease; Mutation analysis

Indexed keywords

COMPLEMENTARY DNA; DJ 1 PROTEIN; GENOMIC DNA;

EID: 84888038415     PISSN: 03043940     EISSN: 18727972     Source Type: Journal    
DOI: 10.1016/j.neulet.2013.10.048     Document Type: Article
Times cited : (10)

References (34)
  • 4
    • 0042242582 scopus 로고    scopus 로고
    • ESEfinder: a web resource to identify exonic splicing enhancers
    • Cartegni L., Wang J., Zhu Z., Zhang M.Q., Krainer A.R. ESEfinder: a web resource to identify exonic splicing enhancers. Nucleic Acids Res. 2003, 31(13):3568-3571.
    • (2003) Nucleic Acids Res. , vol.31 , Issue.13 , pp. 3568-3571
    • Cartegni, L.1    Wang, J.2    Zhu, Z.3    Zhang, M.Q.4    Krainer, A.R.5
  • 5
    • 84863863693 scopus 로고    scopus 로고
    • Mechanism of BAG1 repair on Parkinson's disease linked DJ1 mutation
    • Chen C.Y.C Mechanism of BAG1 repair on Parkinson's disease linked DJ1 mutation. J. Biomol. Struct. Dyn. 2012, 30(1):1-12.
    • (2012) J. Biomol. Struct. Dyn. , vol.30 , Issue.1 , pp. 1-12
    • Chen, C.Y.C.1
  • 7
    • 80054787664 scopus 로고    scopus 로고
    • What genetics tells us about the causes and mechanisms of Parkinson's disease
    • Corti O., Lesage S., Brice A. What genetics tells us about the causes and mechanisms of Parkinson's disease. Physiol. Rev. 2011, 91(4):1161-1218.
    • (2011) Physiol. Rev. , vol.91 , Issue.4 , pp. 1161-1218
    • Corti, O.1    Lesage, S.2    Brice, A.3
  • 10
    • 57049185760 scopus 로고    scopus 로고
    • Mutation analysis of Parkin, PINK1, DJ1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset parkinsonism
    • Guo J., Xiao B., Liao B., Zhang X., Nie L., Zhang Y., Shen L., Jiang H., Xia K., Pan Q., Yan X., Tang B. Mutation analysis of Parkin, PINK1, DJ1 and ATP13A2 genes in Chinese patients with autosomal recessive early-onset parkinsonism. Mov. Disord. 2008, 23(14):2074-2093.
    • (2008) Mov. Disord. , vol.23 , Issue.14 , pp. 2074-2093
    • Guo, J.1    Xiao, B.2    Liao, B.3    Zhang, X.4    Nie, L.5    Zhang, Y.6    Shen, L.7    Jiang, H.8    Xia, K.9    Pan, Q.10    Yan, X.11    Tang, B.12
  • 14
    • 0026514953 scopus 로고
    • Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico pathological study of 100 cases
    • Hughes A.J., Danie S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico pathological study of 100 cases. J. Neurol. Neurosurg. Psychiatry 1992, 55(3):181-184.
    • (1992) J. Neurol. Neurosurg. Psychiatry , vol.55 , Issue.3 , pp. 181-184
    • Hughes, A.J.1    Danie, S.E.2    Kilford, L.3    Lees, A.J.4
  • 15
    • 0035940582 scopus 로고    scopus 로고
    • Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease
    • Hughes A.J., Daniel S.E., Lees A.J. Improved accuracy of clinical diagnosis of Lewy body Parkinson's disease. Neurology 2001, 57(8):1497-1499.
    • (2001) Neurology , vol.57 , Issue.8 , pp. 1497-1499
    • Hughes, A.J.1    Daniel, S.E.2    Lees, A.J.3
  • 18
    • 66949152096 scopus 로고    scopus 로고
    • Parkinson's disease
    • Lees A.J., Tamas Revesz J.H. Parkinson's disease. Lancet 2009, 373:2055-2066.
    • (2009) Lancet , vol.373 , pp. 2055-2066
    • Lees, A.J.1    Tamas Revesz, J.H.2
  • 21
    • 77954104112 scopus 로고    scopus 로고
    • Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update
    • Nuytemans K., Theuns J., Cruts M., Van Broeckhoven C. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum. Mutat. 2010, 31(7):763-780.
    • (2010) Hum. Mutat. , vol.31 , Issue.7 , pp. 763-780
    • Nuytemans, K.1    Theuns, J.2    Cruts, M.3    Van Broeckhoven, C.4
  • 22
    • 0036119504 scopus 로고    scopus 로고
    • Accounting for human polymorphisms predicted to affect protein function
    • Ng P.C., Henikoff S. Accounting for human polymorphisms predicted to affect protein function. Genome Res. 2010, 12:436-446.
    • (2010) Genome Res. , vol.12 , pp. 436-446
    • Ng, P.C.1    Henikoff, S.2
  • 26
    • 77953025131 scopus 로고    scopus 로고
    • Comment on compound heterozygosity in DJ1 gene non-coding portion related to Parkinsonism
    • Sironi F., Primignani P., Goldwurm S. Comment on compound heterozygosity in DJ1 gene non-coding portion related to Parkinsonism. Parkinsonism Relat. Disord. 2010, 16(5):360-361.
    • (2010) Parkinsonism Relat. Disord. , vol.16 , Issue.5 , pp. 360-361
    • Sironi, F.1    Primignani, P.2    Goldwurm, S.3
  • 27
    • 0042232353 scopus 로고    scopus 로고
    • The role of pathogenic DJ1 mutations in Parkinson's disease
    • Sleiman P.M., Healy D.G., Quinn N., Lees A.J., Wood N.W. The role of pathogenic DJ1 mutations in Parkinson's disease. Ann. Neurol. 2003, 54(3):283-286.
    • (2003) Ann. Neurol. , vol.54 , Issue.3 , pp. 283-286
    • Sleiman, P.M.1    Healy, D.G.2    Quinn, N.3    Lees, A.J.4    Wood, N.W.5
  • 30
    • 64049087582 scopus 로고    scopus 로고
    • Mutation analysis for DJ1 in sporadic and familial parkinsonism: screening strategy in parkinsonism
    • Tomiyama H., Li Y., Yoshino H., Mizuno Y., Kubo S., Toda T., Hattori N. Mutation analysis for DJ1 in sporadic and familial parkinsonism: screening strategy in parkinsonism. Neurosci. Lett. 2009, 455:159-161.
    • (2009) Neurosci. Lett. , vol.455 , pp. 159-161
    • Tomiyama, H.1    Li, Y.2    Yoshino, H.3    Mizuno, Y.4    Kubo, S.5    Toda, T.6    Hattori, N.7
  • 33
    • 0042130551 scopus 로고    scopus 로고
    • The 1.1-A resolution crystal structure of DJ1, the protein mutated in autosomal recessive early onset Parkinson's disease
    • Wilson M.A., Collins J.L., Hod Y., Ringe D., Petsko G.A. The 1.1-A resolution crystal structure of DJ1, the protein mutated in autosomal recessive early onset Parkinson's disease. Proc. Natl. Acad. Sci. U.S.A. 2003, 100:9256-9261.
    • (2003) Proc. Natl. Acad. Sci. U.S.A. , vol.100 , pp. 9256-9261
    • Wilson, M.A.1    Collins, J.L.2    Hod, Y.3    Ringe, D.4    Petsko, G.A.5


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.