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Volumn 27, Issue 1, 2012, Pages 139-143

Analysis of PARK2 gene exon rearrangements in Russian patients with sporadic Parkinson's disease

Author keywords

Deletion; Duplication; PARK2 exon rearrangements; Parkinson's disease

Indexed keywords

ADULT; ARTICLE; CONTROLLED STUDY; DISEASE COURSE; DYSTONIA; EARLY ONSET PARKINSON DISEASE; EXON; FEMALE; GENE; GENE DELETION; GENE DUPLICATION; GENE MUTATION; GENE REARRANGEMENT; GENETIC ANALYSIS; GENETIC SCREENING; HUMAN; LATE ONSET PARKINSON DISEASE; MAJOR CLINICAL STUDY; MALE; MOLECULAR PATHOLOGY; ONSET AGE; PARK2 GENE; PARKINSON DISEASE; PRIORITY JOURNAL; RUSSIAN FEDERATION; SPORADIC PARKINSON DISEASE;

EID: 84855973029     PISSN: 08853185     EISSN: 15318257     Source Type: Journal    
DOI: 10.1002/mds.23901     Document Type: Article
Times cited : (9)

References (27)
  • 1
    • 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-R59.
    • (2009) Hum Mol Genet , vol.18 , Issue.R1
    • Lesage, S.1    Brice, A.2
  • 4
    • 20344372905 scopus 로고    scopus 로고
    • Italian Parkinson Genetics Network. Novel parkin mutations detected in patients with early-onset Parkinson's disease
    • Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, et al. Italian Parkinson Genetics Network. Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord 2005; 20: 424-431.
    • (2005) Mov Disord , vol.20 , pp. 424-431
    • Bertoli-Avella, A.M.1    Giroud-Benitez, J.L.2    Akyol, A.3
  • 5
    • 0037161261 scopus 로고    scopus 로고
    • Evaluation of 50 probands with early-onset Parkinson's disease for parkin mutations
    • Hedrich K, Marder K
    • Hedrich K, Marder K, Harris J, et al. Evaluation of 50 probands with early-onset Parkinson's disease for parkin mutations. Neurology 2002; 58: 1239-1246.
    • (2002) Neurology , vol.58 , pp. 1239-1246
    • Harris, J.1
  • 6
    • 0037648357 scopus 로고    scopus 로고
    • French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • Periquet M, Latouche M, Lohmann E, et al. French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 2003; 126( Pt 6): 1271-1278.
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1271-1278
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3
  • 8
    • 0000224448 scopus 로고
    • Members of the UPDRS Development Committee. Unified Parkinson's Disease rating scale
    • Fahn S, Marsden CD, Calne DB, eds. Florham Park, NJ: Macmillan Health Care Information ;: -.
    • Fahn S, Elton R, Members of the UPDRS Development Committee. Unified Parkinson's Disease rating scale. In: Fahn S, Marsden CD, Calne DB et al., eds. Recent developments in Parkinson's disease. Florham Park, NJ: Macmillan Health Care Information 1987; 2: 153-164.
    • (1987) Recent developments in Parkinson's disease , vol.2 , pp. 153-164
    • Fahn, S.1    Elton, R.2
  • 9
    • 4644321549 scopus 로고    scopus 로고
    • The Movement Disorder Society Task Force on Rating Scales for Parkinson's Disease. Movement Disorder Society Task Force report on the Hoehn and Yahr staging scale: status and recommendations
    • Goetz CG, Poewe W, Rascol O, et al. The Movement Disorder Society Task Force on Rating Scales for Parkinson's Disease. Movement Disorder Society Task Force report on the Hoehn and Yahr staging scale: status and recommendations. Mov Disord 2004; 19: 1020-1028.
    • (2004) Mov Disord , vol.19 , pp. 1020-1028
    • Goetz, C.G.1    Poewe, W.2    Rascol, O.3
  • 10
    • 0024284028 scopus 로고
    • A simple salting out procedure for extracting DNA from human nucleated cells
    • Miller SA, Dykes DD, Polesky HF. A simple salting out procedure for extracting DNA from human nucleated cells. Nucleic Acids Res 1988; 16: 1215.
    • (1988) Nucleic Acids Res , vol.16 , pp. 1215
    • Miller, S.A.1    Dykes, D.D.2    Polesky, H.F.3
  • 11
    • 33847757812 scopus 로고    scopus 로고
    • Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage
    • Shadrina MI, Semenova EV, Slominsky PA, et al. Effective quantitative real-time polymerase chain reaction analysis of the parkin gene (PARK2) exon 1-12 dosage. BMC Med Genet 2007; 8: 6.
    • (2007) BMC Med Genet , vol.8 , pp. 6
    • Shadrina, M.I.1    Semenova, E.V.2    Slominsky, P.A.3
  • 12
    • 33748809507 scopus 로고    scopus 로고
    • Molecular pathogenesis of Parkinson's disease: Identification of mutations in the parkin gene in Indian patients
    • Biswas A, Gupta A, Naiya T, et al. Molecular pathogenesis of Parkinson's disease: Identification of mutations in the parkin gene in Indian patients. Parkinsonism Relat Disord 2006; 12: 420-426.
    • (2006) Parkinsonism Relat Disord , vol.12 , pp. 420-426
    • Biswas, A.1    Gupta, A.2    Naiya, T.3
  • 13
    • 58349122909 scopus 로고    scopus 로고
    • Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia
    • Mellick GD, Siebert GA, Fanayama M, et al. Screening PARK genes for mutations in early-onset Parkinson's disease patients from Queensland, Australia. Parkinsonism Relat Disord 2009; 15: 105-109.
    • (2009) Parkinsonism Relat Disord , vol.15 , pp. 105-109
    • Mellick, G.D.1    Siebert, G.A.2    Fanayama, M.3
  • 14
    • 77954660828 scopus 로고    scopus 로고
    • Analysis of exon dosage using MLPA in South African Parkinson's disease patients
    • Keyser RJ, Lombard D, Veikondis R, Carr J, Bardien S. Analysis of exon dosage using MLPA in South African Parkinson's disease patients. Neurogenetics 2010; 11: 305-312.
    • (2010) Neurogenetics , vol.11 , pp. 305-312
    • Keyser, R.J.1    Lombard, D.2    Veikondis, R.3    Carr, J.4    Bardien, S.5
  • 15
    • 12144254582 scopus 로고    scopus 로고
    • Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
    • Wu RM, Bounds R, Lincoln S, et al. Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 2005; 62: 82-87.
    • (2005) Arch Neurol , vol.62 , pp. 82-87
    • Wu, R.M.1    Bounds, R.2    Lincoln, S.3
  • 16
    • 52649172690 scopus 로고    scopus 로고
    • Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
    • Choi JM, Woo MS, Ma HI, et al. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 2008; 9: 263-269.
    • (2008) Neurogenetics , vol.9 , pp. 263-269
    • Choi, J.M.1    Woo, M.S.2    Ma, H.I.3
  • 17
    • 42249091077 scopus 로고    scopus 로고
    • Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method
    • Wang Y, Clark LN, Louis ED, et al. Risk of Parkinson disease in carriers of parkin mutations: estimation using the kin-cohort method. Arch Neurol 2008; 65: 467-474.
    • (2008) Arch Neurol , vol.65 , pp. 467-474
    • Wang, Y.1    Clark, L.N.2    Louis, E.D.3
  • 18
    • 33646712143 scopus 로고    scopus 로고
    • Parkin mutations in familial and sporadic Parkinson's disease among Indians
    • Chaudhary S, Behari M, Dihana M, et al. Parkin mutations in familial and sporadic Parkinson's disease among Indians. Parkinsonism Relat Disord 2006; 12: 239-245.
    • (2006) Parkinsonism Relat Disord , vol.12 , pp. 239-245
    • Chaudhary, S.1    Behari, M.2    Dihana, M.3
  • 19
    • 4444331146 scopus 로고    scopus 로고
    • Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients
    • Djarmati A, Hedrich K, Svetel M, et al. Detection of Parkin (PARK2) and DJ1 (PARK7) mutations in early-onset Parkinson disease: Parkin mutation frequency depends on ethnic origin of patients. Hum Mutat 2004; 23: 525.
    • (2004) Hum Mutat , vol.23 , pp. 525
    • Djarmati, A.1    Hedrich, K.2    Svetel, M.3
  • 20
    • 44349095353 scopus 로고    scopus 로고
    • Parkin analysis in early onset Parkinson's disease
    • Sironi F, Primignani P, Zini M, et al. Parkin analysis in early onset Parkinson's disease. Parkinsonism Relat Disord 2008; 14: 326-333.
    • (2008) Parkinsonism Relat Disord , vol.14 , pp. 326-333
    • Sironi, F.1    Primignani, P.2    Zini, M.3
  • 21
    • 0036229267 scopus 로고    scopus 로고
    • Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
    • Kann M, Jacobs H, Mohrmann K, et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002; 51: 621-625.
    • (2002) Ann Neurol , vol.51 , pp. 621-625
    • Kann, M.1    Jacobs, H.2    Mohrmann, K.3
  • 22
    • 0037712899 scopus 로고    scopus 로고
    • [Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease]
    • Russian]
    • Slominskiǐ PA, Miloserdova OV, Popova SN, et al. [Analysis of deletion mutations in the PARK2 gene in idiopathic Parkinson's disease]. Genetika 2003; 39: 223-228. [Russian]
    • (2003) Genetika , vol.39 , pp. 223-228
    • Slominskiǐ, P.A.1    Miloserdova, O.V.2    Popova, S.N.3
  • 23
    • 4444370179 scopus 로고    scopus 로고
    • How does parkin ligate ubiquitin to Parkinson's disease?
    • Kahle PJ, Haass C. How does parkin ligate ubiquitin to Parkinson's disease? EMBO Rep 2004; 5: 681-685.
    • (2004) EMBO Rep , vol.5 , pp. 681-685
    • Kahle, P.J.1    Haass, C.2
  • 24
    • 33745091901 scopus 로고    scopus 로고
    • Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study
    • Sun M, Latourelle JC, Wooten GF, et al. Influence of heterozygosity for parkin mutation on onset age in familial Parkinson disease: the GenePD study. Arch Neurol 2006; 63: 826-832.
    • (2006) Arch Neurol , vol.63 , pp. 826-832
    • Sun, M.1    Latourelle, J.C.2    Wooten, G.F.3
  • 25
    • 0042415580 scopus 로고    scopus 로고
    • French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. How much phenotypic variation can be attributed to parkin genotype?
    • Lohmann E, Periquet M, Bonifati V, et al. French Parkinson's Disease Genetics Study Group; European Consortium on Genetic Susceptibility in Parkinson's Disease. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003; 54: 176-185.
    • (2003) Ann Neurol , vol.54 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 26
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    • Parkinson Study Group.
    • Foroud T, Uniacke SK, Liu L, et al. Parkinson Study Group. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 2003; 60: 796-801.
    • (2003) Neurology , vol.60 , pp. 796-801
    • Foroud, T.1    Uniacke, S.K.2    Liu, L.3
  • 27
    • 0033933192 scopus 로고    scopus 로고
    • Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype
    • Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000; 48: 65-71.
    • (2000) Ann Neurol , vol.48 , pp. 65-71
    • Klein, C.1    Pramstaller, P.P.2    Kis, B.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.