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Volumn 7, Issue 6, 2007, Pages 657-666

Genetics of Parkinson's disease and parkinsonism

Author keywords

synuclein; LRRK2; Neurogenetics; PARK loci; Parkin; Parkinson's disease; PINK1

Indexed keywords

ALPHA SYNUCLEIN; DJ 1 PROTEIN; LEUCINE RICH REPEAT KINASE 2; PARK10 PROTEIN; PARK12 PROTEIN; PARK13 PROTEIN; PARK9 PROTEIN; PARKIN; PHOSPHATASE AND TENSIN HOMOLOGUE DELETED ON CHROMOSOME 10 INDUCED KINASE 1; PROTEIN SERINE THREONINE KINASE; UNCLASSIFIED DRUG;

EID: 34250355956     PISSN: 14737175     EISSN: 17448360     Source Type: Journal    
DOI: 10.1586/14737175.7.6.657     Document Type: Review
Times cited : (34)

References (135)
  • 1
    • 2542596183 scopus 로고    scopus 로고
    • Parkinson's disease
    • Samii A, Nutt JG, Ransom BR. Parkinson's disease. Lancet 363(9423), 1783-1793 (2004).
    • (2004) Lancet , vol.363 , Issue.9423 , pp. 1783-1793
    • Samii, A.1    Nutt, J.G.2    Ransom, B.R.3
  • 3
    • 0028060492 scopus 로고
    • Increased risk of Parkinson's disease in parents and siblings of patients
    • Payami H, Larsen K, Bernard S, Nutt J. Increased risk of Parkinson's disease in parents and siblings of patients. Ann. Neurol. 36(4), 659-661 (1994).
    • (1994) Ann. Neurol , vol.36 , Issue.4 , pp. 659-661
    • Payami, H.1    Larsen, K.2    Bernard, S.3    Nutt, J.4
  • 5
    • 0034649710 scopus 로고    scopus 로고
    • Familial aggregation of Parkinson's disease in Iceland
    • Sveinbjornsdottir S, Hicks AA, Jonsson T et al. Familial aggregation of Parkinson's disease in Iceland. N. Engl. J. Med. 343(24), 1765-1770 (2000).
    • (2000) N. Engl. J. Med , vol.343 , Issue.24 , pp. 1765-1770
    • Sveinbjornsdottir, S.1    Hicks, A.A.2    Jonsson, T.3
  • 6
    • 0033768752 scopus 로고    scopus 로고
    • Parkinson's disease and environmental factors. Matched case-control study in the Limousin region, France
    • Preux PM, Condet A, Anglade C et al. Parkinson's disease and environmental factors. Matched case-control study in the Limousin region, France. Neuroepidemiology 19(6), 333-337 (2000).
    • (2000) Neuroepidemiology , vol.19 , Issue.6 , pp. 333-337
    • Preux, P.M.1    Condet, A.2    Anglade, C.3
  • 7
    • 4844223492 scopus 로고    scopus 로고
    • Familial aggregation of Parkinson's disease: The Mayo Clinic family study
    • Rocca WA, McDonnell SK, Strain KJ et al. Familial aggregation of Parkinson's disease: the Mayo Clinic family study. Ann. Neurol. 56(4), 495-502 (2004).
    • (2004) Ann. Neurol , vol.56 , Issue.4 , pp. 495-502
    • Rocca, W.A.1    McDonnell, S.K.2    Strain, K.J.3
  • 8
    • 0038727850 scopus 로고    scopus 로고
    • Parkinson's disease and related α-synucleinopathies are brain amyloidoses
    • Trojanowski JQ, Lee VM. Parkinson's disease and related α-synucleinopathies are brain amyloidoses. Ann. NY Acad. Sci. 991, 107-110 (2003).
    • (2003) Ann. NY Acad. Sci , vol.991 , pp. 107-110
    • Trojanowski, J.Q.1    Lee, V.M.2
  • 9
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Valente EM, Abou-Sleiman PM, Caputo V et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304(5674), 1158-1160 (2004).
    • (2004) Science , vol.304 , Issue.5674 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 10
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos MH, Lavedan C, Leroy E et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276(5321), 2045-2047 (1997).
    • (1997) Science , vol.276 , Issue.5321 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 11
    • 0032499264 scopus 로고    scopus 로고
    • Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
    • Kitada T, Asakawa S, Hattori N et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392(6676), 605-608 (1998).
    • (1998) Nature , vol.392 , Issue.6676 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 12
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • Bonifati V, Rizzu P, van Baren MJ et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299(5604), 256-259 (2003).
    • (2003) Science , vol.299 , Issue.5604 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    van Baren, M.J.3
  • 13
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz C, Jain S, Evans EW et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44(4), 595-600 (2004).
    • (2004) Neuron , vol.44 , Issue.4 , pp. 595-600
    • Paisan-Ruiz, C.1    Jain, S.2    Evans, E.W.3
  • 14
    • 8844233579 scopus 로고    scopus 로고
    • Mutations in LRRK2 cause autosomaldominant parkinsonism with pleomorphic pathology
    • Zimprich A, Biskup S, Leitner P et al. Mutations in LRRK2 cause autosomaldominant parkinsonism with pleomorphic pathology. Neuron 44(4), 601-607 (2004).
    • (2004) Neuron , vol.44 , Issue.4 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 15
    • 0037226797 scopus 로고    scopus 로고
    • Mutation in NR4A2 associated with familial Parkinson disease
    • Le WD, Xu P, Jankovic J et al. Mutation in NR4A2 associated with familial Parkinson disease. Nat. Genet. 33(1), 85-89 (2003).
    • (2003) Nat. Genet , vol.33 , Issue.1 , pp. 85-89
    • WD, L.1    Xu, P.2    Jankovic, J.3
  • 16
    • 12444281013 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
    • Marx FP, Holzmann C, Strauss KM et al. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum. Mol. Genet. 12(11), 1223-1231 (2003).
    • (2003) Hum. Mol. Genet , vol.12 , Issue.11 , pp. 1223-1231
    • Marx, F.P.1    Holzmann, C.2    Strauss, K.M.3
  • 17
    • 0037334423 scopus 로고    scopus 로고
    • Familial and sporadic Parkinson's disease usually display the same clinical features
    • Carr J, de la Fuente-Fernandez R, Schulzer M et al. Familial and sporadic Parkinson's disease usually display the same clinical features. Parkinsonism Relat. Disord. 9(4), 201-204 (2003).
    • (2003) Parkinsonism Relat. Disord , vol.9 , Issue.4 , pp. 201-204
    • Carr, J.1    de la Fuente-Fernandez, R.2    Schulzer, M.3
  • 18
    • 0029806563 scopus 로고    scopus 로고
    • Clinical genetic analysis of Parkinson's disease in the Contursi kindred
    • Golbe LI, Di Iorio G, Sanges G et al. Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann. Neurol. 40(5), 767-775 (1996).
    • (1996) Ann. Neurol , vol.40 , Issue.5 , pp. 767-775
    • Golbe, L.I.1    Di Iorio, G.2    Sanges, G.3
  • 19
    • 0035031258 scopus 로고    scopus 로고
    • Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease
    • Papapetropoulos S, Paschalis C, Athanassiadou A et al. Clinical phenotype in patients with α-synuclein Parkinson's disease living in Greece in comparison with patients with sporadic Parkinson's disease. J. Neurol. Neurosurg. Psychiatry 70(5), 662-665 (2001).
    • (2001) J. Neurol. Neurosurg. Psychiatry , vol.70 , Issue.5 , pp. 662-665
    • Papapetropoulos, S.1    Paschalis, C.2    Athanassiadou, A.3
  • 20
    • 0031990490 scopus 로고    scopus 로고
    • Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease
    • Kruger R, Kuhn W, Muller T et al. Ala30Pro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat. Genet. 18(2), 106-108 (1998).
    • (1998) Nat. Genet , vol.18 , Issue.2 , pp. 106-108
    • Kruger, R.1    Kuhn, W.2    Muller, T.3
  • 21
    • 10744230149 scopus 로고    scopus 로고
    • The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia
    • Zarranz JJ, Alegre J, Gomez-Esteban JC et al. The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia. Ann. Neurol. 55(2), 164-173 (2004).
    • (2004) Ann. Neurol , vol.55 , Issue.2 , pp. 164-173
    • Zarranz, J.J.1    Alegre, J.2    Gomez-Esteban, J.C.3
  • 22
    • 15444338952 scopus 로고    scopus 로고
    • The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: A study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease
    • Vaughan J, Durr A, Tassin J et al. The α-synuclein Ala53Thr mutation is not a common cause of familial Parkinson's disease: a study of 230 European cases. European Consortium on Genetic Susceptibility in Parkinson's Disease. Ann. Neurol. 44(2), 270-273 (1998).
    • (1998) Ann. Neurol , vol.44 , Issue.2 , pp. 270-273
    • Vaughan, J.1    Durr, A.2    Tassin, J.3
  • 23
    • 0035880458 scopus 로고    scopus 로고
    • α-synuclein gene haplotypes are associated with Parkinson's disease
    • Farrer M, Maraganore DM, Lockhart P et al. α-synuclein gene haplotypes are associated with Parkinson's disease. Hum. Mol. Genet. 10(17), 1847-1851 (2001).
    • (2001) Hum. Mol. Genet , vol.10 , Issue.17 , pp. 1847-1851
    • Farrer, M.1    Maraganore, D.M.2    Lockhart, P.3
  • 24
    • 4844222408 scopus 로고    scopus 로고
    • α-synuclein promoter confers susceptibility to Parkinson's disease
    • Pals P, Lincoln S, Manning J et al. α-synuclein promoter confers susceptibility to Parkinson's disease. Ann. Neurol. 56(4), 591-595 (2004).
    • (2004) Ann. Neurol , vol.56 , Issue.4 , pp. 591-595
    • Pals, P.1    Lincoln, S.2    Manning, J.3
  • 25
    • 4644290985 scopus 로고    scopus 로고
    • α-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin MC, Kachergus J, Roumier C et al. α-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364(9440), 1167-1169 (2004).
    • (2004) Lancet , vol.364 , Issue.9440 , pp. 1167-1169
    • Chartier-Harlin, M.C.1    Kachergus, J.2    Roumier, C.3
  • 26
    • 4644236043 scopus 로고    scopus 로고
    • Causal relation between α-synuclein gene duplication and familial Parkinson's disease
    • Ibanez P, Bonnet AM, Debarges B et al. Causal relation between α-synuclein gene duplication and familial Parkinson's disease. Lancet 364(9440), 1169-1171 (2004).
    • (2004) Lancet , vol.364 , Issue.9440 , pp. 1169-1171
    • Ibanez, P.1    Bonnet, A.M.2    Debarges, B.3
  • 27
    • 15144345616 scopus 로고    scopus 로고
    • Hereditary form of parkinsonism - dementia
    • Muenter MD, Forno LS, Hornykiewicz O et al. Hereditary form of parkinsonism - dementia. Ann. Neurol. 43(6), 768-781 (1998).
    • (1998) Ann. Neurol , vol.43 , Issue.6 , pp. 768-781
    • Muenter, M.D.1    Forno, L.S.2    Hornykiewicz, O.3
  • 28
    • 9144266292 scopus 로고    scopus 로고
    • α-synuclein haplotypes implicated in risk of Parkinson's disease
    • Tan EK, Chai A, Teo YY et al. α-synuclein haplotypes implicated in risk of Parkinson's disease. Neurology 62(1), 128-131 (2004).
    • (2004) Neurology , vol.62 , Issue.1 , pp. 128-131
    • Tan, E.K.1    Chai, A.2    Teo, Y.Y.3
  • 29
    • 0242300619 scopus 로고    scopus 로고
    • α-synuclein locus triplication causes Parkinson's disease
    • Singleton AB, Farrer M, Johnson J et al. α-synuclein locus triplication causes Parkinson's disease. Science 302(5646), 841 (2003).
    • (2003) Science , vol.302 , Issue.5646 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 30
    • 10744227740 scopus 로고    scopus 로고
    • Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications
    • Farrer M, Kachergus J, Forno L et al. Comparison of kindreds with parkinsonism and α-synuclein genomic multiplications. Ann. Neurol. 55(2), 174-179 (2004).
    • (2004) Ann. Neurol , vol.55 , Issue.2 , pp. 174-179
    • Farrer, M.1    Kachergus, J.2    Forno, L.3
  • 31
    • 33746869343 scopus 로고    scopus 로고
    • Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease
    • Maraganore DM, de Andrade M, Elbaz A et al. Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease. JAMA 296(6), 661-670 (2006).
    • (2006) JAMA , vol.296 , Issue.6 , pp. 661-670
    • Maraganore, D.M.1    de Andrade, M.2    Elbaz, A.3
  • 32
    • 0030882856 scopus 로고    scopus 로고
    • α-synuclein in Lewy bodies
    • Spillantini MG, Schmidt ML, Lee VM et al. α-synuclein in Lewy bodies. Nature 388(6645), 839-840 (1997).
    • (1997) Nature , vol.388 , Issue.6645 , pp. 839-840
    • Spillantini, M.G.1    Schmidt, M.L.2    Lee, V.M.3
  • 33
    • 0034531475 scopus 로고    scopus 로고
    • The α-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy
    • Spillantini MG, Goedert M. The α-synucleinopathies: Parkinson's disease, dementia with Lewy bodies, and multiple system atrophy. Ann. NY Acad. Sci. 920, 16-27 (2000).
    • (2000) Ann. NY Acad. Sci , vol.920 , pp. 16-27
    • Spillantini, M.G.1    Goedert, M.2
  • 34
    • 33749240943 scopus 로고    scopus 로고
    • Mechanisms of Parkinson's disease linked to pathological α-synuclein: New targets for drug discovery
    • Lee VM, Trojanowski JQ. Mechanisms of Parkinson's disease linked to pathological α-synuclein: new targets for drug discovery. Neuron 52(1), 33-38 (2006).
    • (2006) Neuron , vol.52 , Issue.1 , pp. 33-38
    • Lee, V.M.1    Trojanowski, J.Q.2
  • 35
    • 2542461043 scopus 로고    scopus 로고
    • α-synuclein has a high affinity for packing defects in a bilayer membrane: A thermodynamics study
    • Nuscher B, Kamp F, Mehnert T et al. α-synuclein has a high affinity for packing defects in a bilayer membrane: a thermodynamics study. J. Biol. Chem. 279(21), 21966-21975 (2004).
    • (2004) J. Biol. Chem , vol.279 , Issue.21 , pp. 21966-21975
    • Nuscher, B.1    Kamp, F.2    Mehnert, T.3
  • 37
    • 24044516868 scopus 로고    scopus 로고
    • α-synuclein alters proteasome function, protein synthesis, and stationary phase viability
    • Chen Q, Thorpe J, Keller JN. α-synuclein alters proteasome function, protein synthesis, and stationary phase viability. J. Biol. Chem. 280(34), 30009-30017 (2005).
    • (2005) J. Biol. Chem , vol.280 , Issue.34 , pp. 30009-30017
    • Chen, Q.1    Thorpe, J.2    Keller, J.N.3
  • 38
    • 0031951197 scopus 로고    scopus 로고
    • A susceptibility locus for Parkinson's disease maps to chromosome 2p13
    • Gasser T, Muller-Myhsok B, Wszolek ZK et al. A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet. 18(3), 262-265 (1998).
    • (1998) Nat. Genet , vol.18 , Issue.3 , pp. 262-265
    • Gasser, T.1    Muller-Myhsok, B.2    Wszolek, Z.K.3
  • 39
    • 2342611060 scopus 로고    scopus 로고
    • Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci
    • Pankratz N, Uniacke SK, Halter CA et al. Genes influencing Parkinson disease onset: replication of PARK3 and identification of novel loci. Neurology 62(9), 1616-1618 (2004).
    • (2004) Neurology , vol.62 , Issue.9 , pp. 1616-1618
    • Pankratz, N.1    Uniacke, S.K.2    Halter, C.A.3
  • 40
    • 0035949797 scopus 로고    scopus 로고
    • Genome-wide scan for Parkinson's disease: The GenePD Study
    • DeStefano AL, Golbe LI, Mark MH et al. Genome-wide scan for Parkinson's disease: the GenePD Study. Neurology 57(6), 1124-1126 (2001).
    • (2001) Neurology , vol.57 , Issue.6 , pp. 1124-1126
    • DeStefano, A.L.1    Golbe, L.I.2    Mark, M.H.3
  • 41
    • 19944410482 scopus 로고    scopus 로고
    • Genome-wide scan linkage analysis for Parkinson's disease: The European genetic study of Parkinson's disease
    • Martinez M, Brice A, Vaughan JR et al. Genome-wide scan linkage analysis for Parkinson's disease: the European genetic study of Parkinson's disease. J. Med. Genet. 41(12), 900-907 (2004).
    • (2004) J. Med. Genet , vol.41 , Issue.12 , pp. 900-907
    • Martinez, M.1    Brice, A.2    Vaughan, J.R.3
  • 42
    • 0034814928 scopus 로고    scopus 로고
    • Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
    • West AB, Zimprich A, Lockhart PJ et al. Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur. J. Hum. Genet. 9(9), 659-666 (2001).
    • (2001) Eur. J. Hum. Genet , vol.9 , Issue.9 , pp. 659-666
    • West, A.B.1    Zimprich, A.2    Lockhart, P.J.3
  • 43
    • 33745875353 scopus 로고    scopus 로고
    • The sepiapterin reductase gene region reveals association in the PARK3 locus: Analysis of familial and sporadic Parkinson's disease in European populations
    • Sharma M, Mueller JC, Zimprich A et al. The sepiapterin reductase gene region reveals association in the PARK3 locus: analysis of familial and sporadic Parkinson's disease in European populations. J. Med. Genet. 43(7), 557-562 (2006).
    • (2006) J. Med. Genet , vol.43 , Issue.7 , pp. 557-562
    • Sharma, M.1    Mueller, J.C.2    Zimprich, A.3
  • 44
    • 0032190090 scopus 로고    scopus 로고
    • The ubiquitin pathway in Parkinson's disease
    • Leroy E, Boyer R, Auburger G et al. The ubiquitin pathway in Parkinson's disease. Nature 395(6701), 451-452 (1998).
    • (1998) Nature , vol.395 , Issue.6701 , pp. 451-452
    • Leroy, E.1    Boyer, R.2    Auburger, G.3
  • 45
    • 0033544368 scopus 로고    scopus 로고
    • Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease
    • Maraganore DM, Farrer MJ, Hardy JA et al. Case-control study of the ubiquitin carboxy-terminal hydrolase L1 gene in Parkinson's disease. Neurology 53(8), 1858-1860 (1999).
    • (1999) Neurology , vol.53 , Issue.8 , pp. 1858-1860
    • Maraganore, D.M.1    Farrer, M.J.2    Hardy, J.A.3
  • 46
    • 12144289221 scopus 로고    scopus 로고
    • UCHL1 is a Parkinson's disease susceptibility gene
    • Maraganore DM, Lesnick TG, Elbaz A et al. UCHL1 is a Parkinson's disease susceptibility gene. Ann. Neurol. 55(4), 512-521 (2004).
    • (2004) Ann. Neurol , vol.55 , Issue.4 , pp. 512-521
    • Maraganore, D.M.1    Lesnick, T.G.2    Elbaz, A.3
  • 47
    • 34249845272 scopus 로고    scopus 로고
    • Reversible monoubiquitination regulates the Parkinson's disease-associated ubiquitin hydrolase UCH-L1
    • Meray RK, Lansbury PT Jr. Reversible monoubiquitination regulates the Parkinson's disease-associated ubiquitin hydrolase UCH-L1. J. Biol. Chem. 282(14), 10567-10575 (2007).
    • (2007) J. Biol. Chem , vol.282 , Issue.14 , pp. 10567-10575
    • Meray, R.K.1    Lansbury Jr., P.T.2
  • 48
    • 9144261126 scopus 로고    scopus 로고
    • The PARK8 locus in autosomal dominant parkinsonism: Confirmation of linkage and further delineation of the disease-containing interval
    • Zimprich A, Muller-Myhsok B, Farrer M et al. The PARK8 locus in autosomal dominant parkinsonism: confirmation of linkage and further delineation of the disease-containing interval. Am. J. Hum. Genet. 74(1), 11-19 (2004).
    • (2004) Am. J. Hum. Genet , vol.74 , Issue.1 , pp. 11-19
    • Zimprich, A.1    Muller-Myhsok, B.2    Farrer, M.3
  • 49
    • 0030875612 scopus 로고    scopus 로고
    • Autosomal dominant familial Parkinson disease: Older onset of age, and good response to levodopa therapy
    • Hasegawa K, Kowa H. Autosomal dominant familial Parkinson disease: older onset of age, and good response to levodopa therapy. Eur. Neurol. 38(Suppl. 1), 39-43 (1997).
    • (1997) Eur. Neurol , vol.38 , Issue.SUPPL. 1 , pp. 39-43
    • Hasegawa, K.1    Kowa, H.2
  • 50
    • 2342605968 scopus 로고    scopus 로고
    • Autosomal dominant parkinsonism associated with variable synuclein and tau pathology
    • Wszolek ZK, Pfeiffer RF, Tsuboi Y et al. Autosomal dominant parkinsonism associated with variable synuclein and tau pathology. Neurology 62(9), 1619-1622 (2004).
    • (2004) Neurology , vol.62 , Issue.9 , pp. 1619-1622
    • Wszolek, Z.K.1    Pfeiffer, R.F.2    Tsuboi, Y.3
  • 51
    • 28544441181 scopus 로고    scopus 로고
    • Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: Clinical, pathological, olfactory and functional imaging and genetic data
    • Khan NL, Jain S, Lynch JM et al. Mutations in the gene LRRK2 encoding dardarin (PARK8) cause familial Parkinson's disease: clinical, pathological, olfactory and functional imaging and genetic data. Brain 128(Pt 12), 2786-2796 (2005).
    • (2005) Brain , vol.128 , Issue.PART 12 , pp. 2786-2796
    • Khan, N.L.1    Jain, S.2    Lynch, J.M.3
  • 52
    • 33645139675 scopus 로고    scopus 로고
    • Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
    • Di Fonzo A, Tassorelli C, De Mari M et al. Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur. J. Hum. Genet. 14(3), 322-331 (2006).
    • (2006) Eur. J. Hum. Genet , vol.14 , Issue.3 , pp. 322-331
    • Di Fonzo, A.1    Tassorelli, C.2    De Mari, M.3
  • 53
    • 20144387207 scopus 로고    scopus 로고
    • Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: Evidence of a common founder across European populations
    • Kachergus J, Mata IF, Hulihan M et al. Identification of a novel LRRK2 mutation linked to autosomal dominant parkinsonism: evidence of a common founder across European populations. Am. J. Hum. Genet. 76(4), 672-680 (2005).
    • (2005) Am. J. Hum. Genet , vol.76 , Issue.4 , pp. 672-680
    • Kachergus, J.1    Mata, I.F.2    Hulihan, M.3
  • 54
    • 19944432606 scopus 로고    scopus 로고
    • Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
    • Nichols WC, Pankratz N, Hernandez D et al. Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365(9457), 410-412 (2005).
    • (2005) Lancet , vol.365 , Issue.9457 , pp. 410-412
    • Nichols, W.C.1    Pankratz, N.2    Hernandez, D.3
  • 55
    • 28544446980 scopus 로고    scopus 로고
    • G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort
    • Bras JM, Guerreiro RJ, Ribeiro MH et al. G2019S dardarin substitution is a common cause of Parkinson's disease in a Portuguese cohort. Mov. Disord. 20(12), 1653-1655 (2005).
    • (2005) Mov. Disord , vol.20 , Issue.12 , pp. 1653-1655
    • Bras, J.M.1    Guerreiro, R.J.2    Ribeiro, M.H.3
  • 56
    • 33646887782 scopus 로고    scopus 로고
    • Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia
    • Saunders-Pullman R, Lipton RB, Senthil G et al. Increased frequency of the LRRK2 G2019S mutation in an elderly Ashkenazi Jewish population is not associated with dementia. Neurosci. Lett. 402(1-2), 92-96 (2006).
    • (2006) Neurosci. Lett , vol.402 , Issue.1-2 , pp. 92-96
    • Saunders-Pullman, R.1    Lipton, R.B.2    Senthil, G.3
  • 57
    • 27644455523 scopus 로고    scopus 로고
    • G2019S LRRK2 mutation in French and North African families with Parkinson's disease
    • Lesage S, Ibanez P, Lohmann E et al. G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Ann. Neurol. 58(5), 784-787 (2005).
    • (2005) Ann. Neurol , vol.58 , Issue.5 , pp. 784-787
    • Lesage, S.1    Ibanez, P.2    Lohmann, E.3
  • 58
    • 26444613397 scopus 로고    scopus 로고
    • Escaping Parkinson's disease: A neurologically healthy octogenarian with the LRRK2 G2019S mutation
    • Kay DM, Kramer P, Higgins D, Zabetian CP, Payami H. Escaping Parkinson's disease: a neurologically healthy octogenarian with the LRRK2 G2019S mutation. Mov. Disord. 20(8), 1077-1078 (2005).
    • (2005) Mov. Disord , vol.20 , Issue.8 , pp. 1077-1078
    • Kay, D.M.1    Kramer, P.2    Higgins, D.3    Zabetian, C.P.4    Payami, H.5
  • 59
    • 33846463019 scopus 로고    scopus 로고
    • Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease
    • Pankratz N, Pauciulo MW, Elsaesser VE et al. Mutations in LRRK2 other than G2019S are rare in a north American-based sample of familial Parkinson's disease. Mov. Disord. 21(12), 2257-2260 (2006).
    • (2006) Mov. Disord , vol.21 , Issue.12 , pp. 2257-2260
    • Pankratz, N.1    Pauciulo, M.W.2    Elsaesser, V.E.3
  • 60
    • 33847226901 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population
    • Funayama M, Li Y, Tomiyama H et al. Leucine-rich repeat kinase 2 G2385R variant is a risk factor for Parkinson disease in Asian population. Neuroreport 18(3), 273-275 (2007).
    • (2007) Neuroreport , vol.18 , Issue.3 , pp. 273-275
    • Funayama, M.1    Li, Y.2    Tomiyama, H.3
  • 61
    • 33846587090 scopus 로고    scopus 로고
    • A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan
    • Fung HC, Chen CM, Hardy J, Singleton AB, Wu YR. A common genetic factor for Parkinson disease in ethnic Chinese population in Taiwan. BMC Neurol. 6, 47 (2006).
    • (2006) BMC Neurol , vol.6 , pp. 47
    • Fung, H.C.1    Chen, C.M.2    Hardy, J.3    Singleton, A.B.4    Wu, Y.R.5
  • 62
    • 33751256567 scopus 로고    scopus 로고
    • The familial parkinsonism gene LRRK2 regulates neurite process morphology
    • Macleod D, Dowman J, Hammond R et al. The familial parkinsonism gene LRRK2 regulates neurite process morphology. Neuron 52(4), 587-593 (2006).
    • (2006) Neuron , vol.52 , Issue.4 , pp. 587-593
    • Macleod, D.1    Dowman, J.2    Hammond, R.3
  • 63
    • 0345701479 scopus 로고    scopus 로고
    • Significant linkage of Parkinson disease to chromosome 2q36-37
    • Pankratz N, Nichols WC, Uniacke SK et al. Significant linkage of Parkinson disease to chromosome 2q36-37. Am. J. Hum. Genet. 72(4), 1053-1057 (2003).
    • (2003) Am. J. Hum. Genet , vol.72 , Issue.4 , pp. 1053-1057
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3
  • 64
    • 13544253718 scopus 로고    scopus 로고
    • PARK11 is not linked with Parkinson's disease in European families
    • Prestel J, Sharma M, Leitner P et al. PARK11 is not linked with Parkinson's disease in European families. Eur. J. Hum. Genet. 13(2), 193-197 (2005).
    • (2005) Eur. J. Hum. Genet , vol.13 , Issue.2 , pp. 193-197
    • Prestel, J.1    Sharma, M.2    Leitner, P.3
  • 65
    • 33749667345 scopus 로고    scopus 로고
    • Genome-wide genotyping in Parkinson's disease and neurologically normal controls: First stage analysis and public release of data
    • Fung HC, Scholz S, Matarin M et al. Genome-wide genotyping in Parkinson's disease and neurologically normal controls: first stage analysis and public release of data. Lancet Neurol. 5(11), 911-916 (2006).
    • (2006) Lancet Neurol , vol.5 , Issue.11 , pp. 911-916
    • Fung, H.C.1    Scholz, S.2    Matarin, M.3
  • 66
    • 33749667971 scopus 로고    scopus 로고
    • Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: A large-scale international study
    • Elbaz A, Nelson LM, Payami H et al. Lack of replication of thirteen single-nucleotide polymorphisms implicated in Parkinson's disease: a large-scale international study. Lancet Neurol. 5(11), 917-923 (2006).
    • (2006) Lancet Neurol , vol.5 , Issue.11 , pp. 917-923
    • Elbaz, A.1    Nelson, L.M.2    Payami, H.3
  • 67
    • 0037648357 scopus 로고    scopus 로고
    • Parkin mutations are frequent in patients with isolated early-onset parkinsonism
    • Periquet M, Latouche M, Lohmann E et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain 126(Pt 6), 1271-1278 (2003).
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1271-1278
    • Periquet, M.1    Latouche, M.2    Lohmann, E.3
  • 68
    • 0042415580 scopus 로고    scopus 로고
    • How much phenotypic variation can be attributed to parkin genotype?
    • Lohmann E, Periquet M, Bonifati V et al. How much phenotypic variation can be attributed to parkin genotype? Ann. Neurol. 54(2), 176-185 (2003).
    • (2003) Ann. Neurol , vol.54 , Issue.2 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 69
    • 0038662544 scopus 로고    scopus 로고
    • Parkin disease: A phenotypic study of a large case series
    • Khan NL, Graham E, Critchley P et al. Parkin disease: a phenotypic study of a large case series. Brain 126(Pt 6), 1279-1292 (2003).
    • (2003) Brain , vol.126 , Issue.PART 6 , pp. 1279-1292
    • Khan, N.L.1    Graham, E.2    Critchley, P.3
  • 70
    • 0033849550 scopus 로고    scopus 로고
    • Autosomal recessive early-onset parkinsonism with diurnal fluctuation: Clinicopathologic characteristics and molecular genetic identification
    • Yamamura Y, Hattori N, Matsumine H, Kuzuhara S, Mizuno Y. Autosomal recessive early-onset parkinsonism with diurnal fluctuation: clinicopathologic characteristics and molecular genetic identification. Brain Dev. 22(Suppl. 1) S87-S91 (2000).
    • (2000) Brain Dev , vol.22 , Issue.SUPPL. 1
    • Yamamura, Y.1    Hattori, N.2    Matsumine, H.3    Kuzuhara, S.4    Mizuno, Y.5
  • 71
    • 0034848395 scopus 로고    scopus 로고
    • Lewy bodies and parkinsonism in families with parkin mutations
    • Farrer M, Chan P, Chen R et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann. Neurol. 50(3), 293-300 (2001).
    • (2001) Ann. Neurol , vol.50 , Issue.3 , pp. 293-300
    • Farrer, M.1    Chan, P.2    Chen, R.3
  • 72
    • 0031721141 scopus 로고    scopus 로고
    • Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
    • Mori H, Kondo T, Yokochi M et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 51(3), 890-892 (1998).
    • (1998) Neurology , vol.51 , Issue.3 , pp. 890-892
    • Mori, H.1    Kondo, T.2    Yokochi, M.3
  • 73
    • 0342368772 scopus 로고    scopus 로고
    • Association between early-onset Parkinson's disease and mutations in the parkin gene
    • Lucking CB, Durr A, Bonifati V et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. N. Engl. J. Med. 342(21), 1560-1567 (2000).
    • (2000) N. Engl. J. Med , vol.342 , Issue.21 , pp. 1560-1567
    • Lucking, C.B.1    Durr, A.2    Bonifati, V.3
  • 74
    • 12244262766 scopus 로고    scopus 로고
    • Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
    • Foroud T, Uniacke SK, Liu L et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 60(5), 796-801 (2003).
    • (2003) Neurology , vol.60 , Issue.5 , pp. 796-801
    • Foroud, T.1    Uniacke, S.K.2    Liu, L.3
  • 75
    • 0035421416 scopus 로고    scopus 로고
    • The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
    • Hedrich K, Kann M, Lanthaler AJ et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum. Mol. Genet. 10(16), 1649-1656 (2001).
    • (2001) Hum. Mol. Genet , vol.10 , Issue.16 , pp. 1649-1656
    • Hedrich, K.1    Kann, M.2    Lanthaler, A.J.3
  • 76
    • 7244261867 scopus 로고    scopus 로고
    • Distribution, type, and origin of Parkin mutations: Review and case studies
    • Hedrich K, Eskelson C, Wilmot B et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov. Disord. 19(10), 1146-1157 (2004).
    • (2004) Mov. Disord , vol.19 , Issue.10 , pp. 1146-1157
    • Hedrich, K.1    Eskelson, C.2    Wilmot, B.3
  • 77
    • 0033933048 scopus 로고    scopus 로고
    • Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
    • Shimura H, Hattori N, Kubo S et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat. Genet. 25(3), 302-305 (2000).
    • (2000) Nat. Genet , vol.25 , Issue.3 , pp. 302-305
    • Shimura, H.1    Hattori, N.2    Kubo, S.3
  • 78
    • 0038771960 scopus 로고    scopus 로고
    • A potential proteasome-interacting motif within the ubiquitin-like domain of parkin and other proteins
    • Upadhya SC, Hegde AN. A potential proteasome-interacting motif within the ubiquitin-like domain of parkin and other proteins. Trends Biochem. Sci. 28(6), 280-283 (2003).
    • (2003) Trends Biochem. Sci , vol.28 , Issue.6 , pp. 280-283
    • Upadhya, S.C.1    Hegde, A.N.2
  • 79
    • 33751267701 scopus 로고    scopus 로고
    • Parkin: A multifaceted ubiquitin ligase
    • Moore DJ. Parkin: a multifaceted ubiquitin ligase. Biochem. Soc. Trans. 34(Pt 5), 749-753 (2006).
    • (2006) Biochem. Soc. Trans , vol.34 , Issue.PART 5 , pp. 749-753
    • Moore, D.J.1
  • 80
    • 0037468831 scopus 로고    scopus 로고
    • Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila
    • Yang Y, Nishimura I, Imai Y, Takahashi R, Lu B. Parkin suppresses dopaminergic neuron-selective neurotoxicity induced by Pael-R in Drosophila. Neuron 37(6), 911-924 (2003).
    • (2003) Neuron , vol.37 , Issue.6 , pp. 911-924
    • Yang, Y.1    Nishimura, I.2    Imai, Y.3    Takahashi, R.4    Lu, B.5
  • 81
    • 29444437871 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration
    • Smith WW, Pei Z, Jiang H et al. Leucine-rich repeat kinase 2 (LRRK2) interacts with parkin, and mutant LRRK2 induces neuronal degeneration. Proc. Natl Acad. Sci. USA 102(51), 18676-18681 (2005).
    • (2005) Proc. Natl Acad. Sci. USA , vol.102 , Issue.51 , pp. 18676-18681
    • Smith, W.W.1    Pei, Z.2    Jiang, H.3
  • 82
    • 12344251678 scopus 로고    scopus 로고
    • Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress
    • Moore DJ, Zhang L, Troncoso J et al. Association of DJ-1 and parkin mediated by pathogenic DJ-1 mutations and oxidative stress. Hum. Mol. Genet. 14(1), 71-84 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , Issue.1 , pp. 71-84
    • Moore, D.J.1    Zhang, L.2    Troncoso, J.3
  • 83
    • 0035068574 scopus 로고    scopus 로고
    • Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
    • Valente EM, Bentivoglio AR, Dixon PH et al. Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am. J. Hum. Genet. 68(4), 895-900 (2001).
    • (2001) Am. J. Hum. Genet , vol.68 , Issue.4 , pp. 895-900
    • Valente, E.M.1    Bentivoglio, A.R.2    Dixon, P.H.3
  • 84
    • 0036136951 scopus 로고    scopus 로고
    • PARK6-linked parkinsonism occurs in several European families
    • Valente EM, Brancati F, Ferraris A et al. PARK6-linked parkinsonism occurs in several European families. Ann. Neurol. 51(1), 14-18 (2002).
    • (2002) Ann. Neurol , vol.51 , Issue.1 , pp. 14-18
    • Valente, E.M.1    Brancati, F.2    Ferraris, A.3
  • 85
    • 4444274910 scopus 로고    scopus 로고
    • PINK1 mutations are associated with sporadic early-onset parkinsonism
    • Valente EM, Salvi S, Ialongo T et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann. Neurol. 56(3), 336-341 (2004).
    • (2004) Ann. Neurol , vol.56 , Issue.3 , pp. 336-341
    • Valente, E.M.1    Salvi, S.2    Ialongo, T.3
  • 86
    • 4444269012 scopus 로고    scopus 로고
    • Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
    • Rohe CF, Montagna P, Breedveld G et al. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann. Neurol. 56(3), 427-431 (2004).
    • (2004) Ann. Neurol , vol.56 , Issue.3 , pp. 427-431
    • Rohe, C.F.1    Montagna, P.2    Breedveld, G.3
  • 87
    • 4444237208 scopus 로고    scopus 로고
    • Novel PINK1 mutations in early-onset parkinsonism
    • Hatano Y, Li Y, Sato K et al. Novel PINK1 mutations in early-onset parkinsonism. Ann. Neurol. 56(3), 424-427 (2004).
    • (2004) Ann. Neurol , vol.56 , Issue.3 , pp. 424-427
    • Hatano, Y.1    Li, Y.2    Sato, K.3
  • 88
    • 5644254800 scopus 로고    scopus 로고
    • PINK1 (PARK6) associated Parkinson disease in Ireland
    • Healy DG, Abou-Sleiman PM, Gibson JM et al. PINK1 (PARK6) associated Parkinson disease in Ireland. Neurology 63(8), 1486-1488 (2004).
    • (2004) Neurology , vol.63 , Issue.8 , pp. 1486-1488
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Gibson, J.M.3
  • 89
    • 33745099053 scopus 로고    scopus 로고
    • Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: Role of a single hit?
    • Hedrich K, Hagenah J, Djarmati A et al. Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Arch. Neurol. 63(6), 833-838 (2006).
    • (2006) Arch. Neurol , vol.63 , Issue.6 , pp. 833-838
    • Hedrich, K.1    Hagenah, J.2    Djarmati, A.3
  • 90
    • 33750598457 scopus 로고    scopus 로고
    • A heterozygous effect for PINK1 mutations in Parkinson's disease?
    • Abou-Sleiman PM, Muqit MM, McDonald NQ et al. A heterozygous effect for PINK1 mutations in Parkinson's disease? Ann. Neurol. 60(4), 414-419 (2006).
    • (2006) Ann. Neurol , vol.60 , Issue.4 , pp. 414-419
    • Abou-Sleiman, P.M.1    Muqit, M.M.2    McDonald, N.Q.3
  • 91
    • 33846029821 scopus 로고    scopus 로고
    • PINK1 mutation heterozygosity and the risk of Parkinson's disease
    • Toft M, Myhre R, Pielsticker L et al. PINK1 mutation heterozygosity and the risk of Parkinson's disease. J. Neurol. Neurosurg. Psychiatry 78(1), 82-84 (2007).
    • (2007) J. Neurol. Neurosurg. Psychiatry , vol.78 , Issue.1 , pp. 82-84
    • Toft, M.1    Myhre, R.2    Pielsticker, L.3
  • 92
    • 0036895554 scopus 로고    scopus 로고
    • Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: An 18F-dopa PET study
    • Khan NL, Valente EM, Bentivoglio AR et al. Clinical and subclinical dopaminergic dysfunction in PARK6-linked parkinsonism: an 18F-dopa PET study. Ann. Neurol. 52(6), 849-853 (2002).
    • (2002) Ann. Neurol , vol.52 , Issue.6 , pp. 849-853
    • Khan, N.L.1    Valente, E.M.2    Bentivoglio, A.R.3
  • 93
    • 33244482539 scopus 로고    scopus 로고
    • Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
    • Ibanez P, Lesage S, Lohmann E et al. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain 129(Pt 3), 686-694 (2006).
    • (2006) Brain , vol.129 , Issue.PART 3 , pp. 686-694
    • Ibanez, P.1    Lesage, S.2    Lohmann, E.3
  • 94
    • 7044236967 scopus 로고    scopus 로고
    • PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations
    • Hatano Y, Sato K, Elibol B et al. PARK6-linked autosomal recessive early-onset parkinsonism in Asian populations. Neurology 63(8), 1482-1485 (2004).
    • (2004) Neurology , vol.63 , Issue.8 , pp. 1482-1485
    • Hatano, Y.1    Sato, K.2    Elibol, B.3
  • 95
    • 33745087689 scopus 로고    scopus 로고
    • PINK1 protein in normal human brain and Parkinson's disease
    • Gandhi S, Muqit MM, Stanyer L et al. PINK1 protein in normal human brain and Parkinson's disease. Brain 129(Pt 7), 1720-1731 (2006).
    • (2006) Brain , vol.129 , Issue.PART 7 , pp. 1720-1731
    • Gandhi, S.1    Muqit, M.M.2    Stanyer, L.3
  • 96
    • 33745589773 scopus 로고    scopus 로고
    • Drosophila PINK1 is required for mitochondrial function and interacts genetically with parkin
    • Clark IE, Dodson MW, Jiang C et al. Drosophila PINK1 is required for mitochondrial function and interacts genetically with parkin. Nature 441(7097), 1162-1166 (2006).
    • (2006) Nature , vol.441 , Issue.7097 , pp. 1162-1166
    • Clark, I.E.1    Dodson, M.W.2    Jiang, C.3
  • 97
    • 33746080412 scopus 로고    scopus 로고
    • Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila PINK1 is rescued by Parkin
    • Yang Y, Gehrke S, Imai Y et al. Mitochondrial pathology and muscle and dopaminergic neuron degeneration caused by inactivation of Drosophila PINK1 is rescued by Parkin. Proc. Natl Acad. Sci. USA 103(28), 10793-10798 (2006).
    • (2006) Proc. Natl Acad. Sci. USA , vol.103 , Issue.28 , pp. 10793-10798
    • Yang, Y.1    Gehrke, S.2    Imai, Y.3
  • 98
    • 33745602748 scopus 로고    scopus 로고
    • Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
    • Park J, Lee SB, Lee S et al. Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441(7097), 1157-1161 (2006).
    • (2006) Nature , vol.441 , Issue.7097 , pp. 1157-1161
    • Park, J.1    Lee, S.B.2    Lee, S.3
  • 99
    • 0043204995 scopus 로고    scopus 로고
    • Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
    • Hague S, Rogaeva E, Hernandez D et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann. Neurol. 54(2), 271-274 (2003).
    • (2003) Ann. Neurol , vol.54 , Issue.2 , pp. 271-274
    • Hague, S.1    Rogaeva, E.2    Hernandez, D.3
  • 101
    • 10744226640 scopus 로고    scopus 로고
    • DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in earlyonset Parkinson disease
    • Hedrich K, Djarmati A, Schafer N et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in earlyonset Parkinson disease. Neurology 62(3), 389-394 (2004).
    • (2004) Neurology , vol.62 , Issue.3 , pp. 389-394
    • Hedrich, K.1    Djarmati, A.2    Schafer, N.3
  • 102
    • 10744232719 scopus 로고    scopus 로고
    • Clinical features and neuroimaging of PARK7-linked parkinsonism
    • Dekker M, Bonifati V, van Swieten J et al. Clinical features and neuroimaging of PARK7-linked parkinsonism. Mov. Disord. 18(7), 751-757 (2003).
    • (2003) Mov. Disord , vol.18 , Issue.7 , pp. 751-757
    • Dekker, M.1    Bonifati, V.2    van Swieten, J.3
  • 104
    • 2942684871 scopus 로고    scopus 로고
    • The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
    • Canet-Aviles RM, Wilson MA, Miller DW et al. The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc. Natl Acad. Sci. USA 101(24), 9103-9108 (2004).
    • (2004) Proc. Natl Acad. Sci. USA , vol.101 , Issue.24 , pp. 9103-9108
    • Canet-Aviles, R.M.1    Wilson, M.A.2    Miller, D.W.3
  • 105
    • 20144389422 scopus 로고    scopus 로고
    • Kim RH, Smith PD, Aleyasin H et al. Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. Proc. Natl Acad. Sci. USA 102(14), 5215-5220 (2005).
    • Kim RH, Smith PD, Aleyasin H et al. Hypersensitivity of DJ-1-deficient mice to 1-methyl-4-phenyl-1,2,3,6-tetrahydropyrindine (MPTP) and oxidative stress. Proc. Natl Acad. Sci. USA 102(14), 5215-5220 (2005).
  • 106
    • 0028298816 scopus 로고
    • Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome
    • Najim al-Din AS, Wriekat A, Mubaidin A, Dasouki M, Hiari M. Pallido-pyramidal degeneration, supranuclear upgaze paresis and dementia: Kufor-Rakeb syndrome. Acta Neurol. Scand. 89(5), 347-352 (1994).
    • (1994) Acta Neurol. Scand , vol.89 , Issue.5 , pp. 347-352
    • Najim al-Din, A.S.1    Wriekat, A.2    Mubaidin, A.3    Dasouki, M.4    Hiari, M.5
  • 107
    • 0034796326 scopus 로고    scopus 로고
    • Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36
    • Hampshire DJ, Roberts E, Crow Y et al. Kufor-Rakeb syndrome, pallido-pyramidal degeneration with supranuclear upgaze paresis and dementia, maps to 1p36. J. Med. Genet. 38(10), 680-682 (2001).
    • (2001) J. Med. Genet , vol.38 , Issue.10 , pp. 680-682
    • Hampshire, D.J.1    Roberts, E.2    Crow, Y.3
  • 108
    • 27844571985 scopus 로고    scopus 로고
    • Kufor Rakeb disease: Autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia
    • Williams DR, Hadeed A, al-Din AS, Wreikat AL, Lees AJ. Kufor Rakeb disease: autosomal recessive, levodopa-responsive parkinsonism with pyramidal degeneration, supranuclear gaze palsy, and dementia. Mov. Disord. 20(10), 1264-1271 (2005).
    • (2005) Mov. Disord , vol.20 , Issue.10 , pp. 1264-1271
    • Williams, D.R.1    Hadeed, A.2    al-Din, A.S.3    Wreikat, A.L.4    Lees, A.J.5
  • 109
    • 33749133430 scopus 로고    scopus 로고
    • Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
    • Ramirez A, Heimbach A, Grundemann J et al. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38(10), 1184-1191 (2006).
    • (2006) Nat. Genet , vol.38 , Issue.10 , pp. 1184-1191
    • Ramirez, A.1    Heimbach, A.2    Grundemann, J.3
  • 110
    • 0036830525 scopus 로고    scopus 로고
    • A susceptibility gene for late-onset idiopathic Parkinson's disease
    • Hicks AA, Petursson H, Jonsson T et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann. Neurol. 52(5), 549-555 (2002).
    • (2002) Ann. Neurol , vol.52 , Issue.5 , pp. 549-555
    • Hicks, A.A.1    Petursson, H.2    Jonsson, T.3
  • 111
    • 18344393780 scopus 로고    scopus 로고
    • Age at onset in two common neurodegenerative diseases is genetically controlled
    • Li YJ, Scott WK, Hedges DJ et al. Age at onset in two common neurodegenerative diseases is genetically controlled. Am. J. Hum. Genet. 70(4), 985-993 (2002).
    • (2002) Am. J. Hum. Genet , vol.70 , Issue.4 , pp. 985-993
    • Li, Y.J.1    Scott, W.K.2    Hedges, D.J.3
  • 112
    • 22544472702 scopus 로고    scopus 로고
    • Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease
    • Oliveira SA, Li YJ, Noureddine MA et al. Identification of risk and age-at-onset genes on chromosome 1p in Parkinson disease. Am. J. Hum. Genet. 77(2), 252-264 (2005).
    • (2005) Am. J. Hum. Genet , vol.77 , Issue.2 , pp. 252-264
    • Oliveira, S.A.1    Li, Y.J.2    Noureddine, M.A.3
  • 113
    • 18444364221 scopus 로고    scopus 로고
    • Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations
    • Pankratz N, Nichols WC, Uniacke SK et al. Genome screen to identify susceptibility genes for Parkinson disease in a sample without parkin mutations. Am. J. Hum. Genet. 71(1), 124-135 (2002).
    • (2002) Am. J. Hum. Genet , vol.71 , Issue.1 , pp. 124-135
    • Pankratz, N.1    Nichols, W.C.2    Uniacke, S.K.3
  • 114
    • 25444498785 scopus 로고    scopus 로고
    • Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
    • Strauss KM, Martins LM, Plun-Favreau H et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum. Mol. Genet. 14(15), 2099-2111 (2005).
    • (2005) Hum. Mol. Genet , vol.14 , Issue.15 , pp. 2099-2111
    • Strauss, K.M.1    Martins, L.M.2    Plun-Favreau, H.3
  • 115
    • 0033837202 scopus 로고    scopus 로고
    • Variability and validity of polymorphism association studies in Parkinson's disease
    • Tan EK, Khajavi M, Thornby JI et al. Variability and validity of polymorphism association studies in Parkinson's disease. Neurology 55(4), 533-538 (2000).
    • (2000) Neurology , vol.55 , Issue.4 , pp. 533-538
    • Tan, E.K.1    Khajavi, M.2    Thornby, J.I.3
  • 116
    • 27844547616 scopus 로고    scopus 로고
    • The role of Nurr1 in the development of dopaminergic neurons and Parkinson's disease
    • Jankovic J, Chen S, Le WD. The role of Nurr1 in the development of dopaminergic neurons and Parkinson's disease. Prog. Neurobiol. 77(1-2), 128-138 (2005).
    • (2005) Prog. Neurobiol , vol.77 , Issue.1-2 , pp. 128-138
    • Jankovic, J.1    Chen, S.2    Le, W.D.3
  • 117
    • 3843050571 scopus 로고    scopus 로고
    • Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease
    • Nichols WC, Uniacke SK, Pankratz N et al. Evaluation of the role of Nurr1 in a large sample of familial Parkinson's disease. Mov. Disord. 19(6), 649-655 (2004).
    • (2004) Mov. Disord , vol.19 , Issue.6 , pp. 649-655
    • Nichols, W.C.1    Uniacke, S.K.2    Pankratz, N.3
  • 118
    • 33845205797 scopus 로고    scopus 로고
    • NR4A2 genetic variation in sporadic Parkinson's disease: A genewide approach
    • Healy DG, Abou-Sleiman PM, Ahmadi KR et al. NR4A2 genetic variation in sporadic Parkinson's disease: a genewide approach. Mov. Disord. 21(11), 1960-1963 (2006).
    • (2006) Mov. Disord , vol.21 , Issue.11 , pp. 1960-1963
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Ahmadi, K.R.3
  • 119
    • 0032952414 scopus 로고    scopus 로고
    • Synphilin-1 associates with α-synuclein and promotes the formation of cytosolic inclusions
    • Engelender S, Kaminsky Z, Guo X et al. Synphilin-1 associates with α-synuclein and promotes the formation of cytosolic inclusions. Nat. Genet. 22(1), 110-114 (1999).
    • (1999) Nat. Genet , vol.22 , Issue.1 , pp. 110-114
    • Engelender, S.1    Kaminsky, Z.2    Guo, X.3
  • 120
    • 34249803290 scopus 로고    scopus 로고
    • The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein - implications for Parkinson's disease
    • Marx FP, Soehn AS, Berg D et al. The proteasomal subunit S6 ATPase is a novel synphilin-1 interacting protein - implications for Parkinson's disease. FASEB J. 21(8), 1759-1767 (2007).
    • (2007) FASEB J , vol.21 , Issue.8 , pp. 1759-1767
    • Marx, F.P.1    Soehn, A.S.2    Berg, D.3
  • 121
    • 20044388324 scopus 로고    scopus 로고
    • Interaction of α-synuclein and tau genotypes in Parkinson's disease
    • Mamah CE, Lesnick TG, Lincoln SJ et al. Interaction of α-synuclein and tau genotypes in Parkinson's disease. Ann. Neurol. 57(3), 439-443 (2005).
    • (2005) Ann. Neurol , vol.57 , Issue.3 , pp. 439-443
    • Mamah, C.E.1    Lesnick, T.G.2    Lincoln, S.J.3
  • 122
    • 3042797560 scopus 로고    scopus 로고
    • Tau gene and Parkinson's disease: A case-control study and meta-analysis
    • Healy DG, Abou-Sleiman PM, Lees AJ et al. Tau gene and Parkinson's disease: a case-control study and meta-analysis. J. Neurol. Neurosurg. Psychiatry 75(7), 962-965 (2004).
    • (2004) J. Neurol. Neurosurg. Psychiatry , vol.75 , Issue.7 , pp. 962-965
    • Healy, D.G.1    Abou-Sleiman, P.M.2    Lees, A.J.3
  • 123
    • 17144379764 scopus 로고    scopus 로고
    • The tau gene haplotype h1 confers a susceptibility to Parkinson's disease
    • Zhang J, Song Y, Chen H, Fan D. The tau gene haplotype h1 confers a susceptibility to Parkinson's disease. Eur. Neurol. 53(1), 15-21 (2005).
    • (2005) Eur. Neurol , vol.53 , Issue.1 , pp. 15-21
    • Zhang, J.1    Song, Y.2    Chen, H.3    Fan, D.4
  • 124
    • 0032849237 scopus 로고    scopus 로고
    • Cellular co-localization of phosphorylated tau- and NACP/α-synuclein-epitopes in lewy bodies in sporadic Parkinson's disease and in dementia with Lewy bodies
    • Arima K, Hirai S, Sunohara N et al. Cellular co-localization of phosphorylated tau- and NACP/α-synuclein-epitopes in lewy bodies in sporadic Parkinson's disease and in dementia with Lewy bodies. Brain Res. 843(1-2), 53-61 (1999).
    • (1999) Brain Res , vol.843 , Issue.1-2 , pp. 53-61
    • Arima, K.1    Hirai, S.2    Sunohara, N.3
  • 126
    • 1442304904 scopus 로고    scopus 로고
    • Tau haplotypes regulate transcription and are associated with Parkinson's disease
    • Kwok JB, Teber ET, Loy C et al. Tau haplotypes regulate transcription and are associated with Parkinson's disease. Ann. Neurol. 55(3), 329-334 (2004).
    • (2004) Ann. Neurol , vol.55 , Issue.3 , pp. 329-334
    • Kwok, J.B.1    Teber, E.T.2    Loy, C.3
  • 127
    • 10844278246 scopus 로고    scopus 로고
    • Parkinsonism among Gaucher disease carriers
    • Goker-Alpan O, Schiffmann R, LaMarca ME et al. Parkinsonism among Gaucher disease carriers. J. Med. Genet. 41(12), 937-940 (2004).
    • (2004) J. Med. Genet , vol.41 , Issue.12 , pp. 937-940
    • Goker-Alpan, O.1    Schiffmann, R.2    LaMarca, M.E.3
  • 128
    • 7444237665 scopus 로고    scopus 로고
    • Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews
    • Aharon-Peretz J, Rosenbaum H, Gershoni-Baruch R. Mutations in the glucocerebrosidase gene and Parkinson's disease in Ashkenazi Jews. N. Engl. J. Med. 351(19), 1972-1977 (2004).
    • (2004) N. Engl. J. Med , vol.351 , Issue.19 , pp. 1972-1977
    • Aharon-Peretz, J.1    Rosenbaum, H.2    Gershoni-Baruch, R.3
  • 130
    • 34250352065 scopus 로고    scopus 로고
    • Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene
    • Clark LN, Haamer E, Mejia-Santana H et al. Construction and validation of a Parkinson's disease mutation genotyping array for the Parkin gene. Mov. Disord. 22(7), 932-937 (2007).
    • (2007) Mov. Disord , vol.22 , Issue.7 , pp. 932-937
    • Clark, L.N.1    Haamer, E.2    Mejia-Santana, H.3
  • 131
    • 33749170166 scopus 로고    scopus 로고
    • Cytosolic catechols inhibit α-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates
    • Mazzulli JR, Mishizen AJ, Giasson BI et al. Cytosolic catechols inhibit α-synuclein aggregation and facilitate the formation of intracellular soluble oligomeric intermediates. J. Neurosci. 26(39), 10068-10078 (2006).
    • (2006) J. Neurosci , vol.26 , Issue.39 , pp. 10068-10078
    • Mazzulli, J.R.1    Mishizen, A.J.2    Giasson, B.I.3
  • 132
    • 27844472158 scopus 로고    scopus 로고
    • A-synuclein aggregation in neurodegenerative diseases and its inhibition as a potential therapeutic strategy
    • Paleologou KE, Irvine GB, El-Agnaf OM. A-synuclein aggregation in neurodegenerative diseases and its inhibition as a potential therapeutic strategy. Biochem. Soc. Trans. 33(Pt 5), 1106-1110 (2005).
    • (2005) Biochem. Soc. Trans , vol.33 , Issue.PART 5 , pp. 1106-1110
    • Paleologou, K.E.1    Irvine, G.B.2    El-Agnaf, O.M.3
  • 133
    • 34147130637 scopus 로고    scopus 로고
    • Isolation of a human single chain antibody fragment against oligomeric α-synuclein that inhibits aggregation and prevents α-synuclein-induced toxicity
    • Emadi S, Barkhordarian H, Wang MS, Schulz P, Sierks MR. Isolation of a human single chain antibody fragment against oligomeric α-synuclein that inhibits aggregation and prevents α-synuclein-induced toxicity. J. Mol. Biol. 368(4), 1132-1144 (2007).
    • (2007) J. Mol. Biol , vol.368 , Issue.4 , pp. 1132-1144
    • Emadi, S.1    Barkhordarian, H.2    Wang, M.S.3    Schulz, P.4    Sierks, M.R.5
  • 134
    • 33749654232 scopus 로고    scopus 로고
    • Parkinson's disease genetics: A complex disease comes to the clinic
    • Perez-Tur J. Parkinson's disease genetics: a complex disease comes to the clinic. Lancet Neurol. 5(11), 896-897 (2006).
    • (2006) Lancet Neurol , vol.5 , Issue.11 , pp. 896-897
    • Perez-Tur, J.1
  • 135
    • 34250380097 scopus 로고    scopus 로고
    • GeneTests www.geneclinics.org


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