메뉴 건너뛰기




Volumn 147, Issue , 2018, Pages 211-227

Genetics of Parkinson disease

Author keywords

DJ1; GBA; genetic testing; genetics; LRRK2; PARKIN; Parkinson disease; PINK1; SNCA; VPS35

Indexed keywords

ALPHA SYNUCLEIN; LEUCINE RICH REPEAT KINASE 2; LRRK2 PROTEIN, HUMAN; PARK7 PROTEIN, HUMAN; PARKIN; PROTEIN DEGLYCASE DJ-1; PROTEIN KINASE; PTEN-INDUCED PUTATIVE KINASE; SNCA PROTEIN, HUMAN; UBIQUITIN PROTEIN LIGASE; VESICULAR TRANSPORT PROTEIN; VPS35 PROTEIN, HUMAN;

EID: 85042097433     PISSN: 00729752     EISSN: 22124152     Source Type: Book Series    
DOI: 10.1016/B978-0-444-63233-3.00014-2     Document Type: Chapter
Times cited : (103)

References (143)
  • 1
    • 77954623892 scopus 로고    scopus 로고
    • Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease
    • Aasly, J.O., Vilariño-Güell, C., Dachsel, J.C., et al. Novel pathogenic LRRK2 p.Asn1437His substitution in familial Parkinson's disease. Mov Disord 25 (2010), 2156–2163.
    • (2010) Mov Disord , vol.25 , pp. 2156-2163
    • Aasly, J.O.1    Vilariño-Güell, C.2    Dachsel, J.C.3
  • 2
    • 0034077041 scopus 로고    scopus 로고
    • Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system
    • Abeliovich, A., Schmitz, Y., Fariñas, I., et al. Mice lacking alpha-synuclein display functional deficits in the nigrostriatal dopamine system. Neuron 25 (2000), 239–352.
    • (2000) Neuron , vol.25 , pp. 239-352
    • Abeliovich, A.1    Schmitz, Y.2    Fariñas, I.3
  • 3
    • 37849012348 scopus 로고    scopus 로고
    • α-Synuclein gene duplication is present in sporadic Parkinson disease
    • Ahn, T.B., Kim, S.Y., Kim, J.Y., et al. α-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 70 (2008), 43–49.
    • (2008) Neurology , vol.70 , pp. 43-49
    • Ahn, T.B.1    Kim, S.Y.2    Kim, J.Y.3
  • 4
    • 20444399801 scopus 로고    scopus 로고
    • The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
    • Albanese, A., Valente, E.M., Romito, L.M., et al. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology 64 (2005), 1958–1960.
    • (2005) Neurology , vol.64 , pp. 1958-1960
    • Albanese, A.1    Valente, E.M.2    Romito, L.M.3
  • 5
    • 77957043835 scopus 로고    scopus 로고
    • Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling
    • Alcalay, R.N., Caccappolo, E., Mejia-Santanaet, H., et al. Frequency of known mutations in early-onset Parkinson disease: implication for genetic counseling. Arch Neurol 67 (2010), 1116–1122.
    • (2010) Arch Neurol , vol.67 , pp. 1116-1122
    • Alcalay, R.N.1    Caccappolo, E.2    Mejia-Santanaet, H.3
  • 6
    • 84902140288 scopus 로고    scopus 로고
    • Comparison of parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes
    • Alcalay, R.N., Dinur, T., Quinn, T., et al. Comparison of parkinson risk in Ashkenazi Jewish patients with Gaucher disease and GBA heterozygotes. JAMA Neurol 71 (2014), 752–757.
    • (2014) JAMA Neurol , vol.71 , pp. 752-757
    • Alcalay, R.N.1    Dinur, T.2    Quinn, T.3
  • 7
    • 84858144224 scopus 로고    scopus 로고
    • Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers
    • Anheim, M., Elbaz, A., Lesage, S., et al. Penetrance of Parkinson disease in glucocerebrosidase gene mutation carriers. Neurology 78 (2012), 417–420.
    • (2012) Neurology , vol.78 , pp. 417-420
    • Anheim, M.1    Elbaz, A.2    Lesage, S.3
  • 8
    • 84879605541 scopus 로고    scopus 로고
    • Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
    • Appel-Cresswell, S., Vilariño-Güell, C., Encarnacion, M., et al. Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. Mov Disord 28 (2013), 811–813.
    • (2013) Mov Disord , vol.28 , pp. 811-813
    • Appel-Cresswell, S.1    Vilariño-Güell, C.2    Encarnacion, M.3
  • 10
    • 84887956934 scopus 로고    scopus 로고
    • Genetics of Parkinson's disease – state of the art, 2013
    • Bonifati, V., Genetics of Parkinson's disease – state of the art, 2013. Parkinsonism Relat Disord 20:Suppl 1 (2014), S23–S28.
    • (2014) Parkinsonism Relat Disord , vol.20 , pp. S23-S28
    • Bonifati, V.1
  • 11
    • 0037428241 scopus 로고    scopus 로고
    • Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
    • Bonifati, V., Rizzu, P., van Baren, M.J., et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299 (2003), 256–259.
    • (2003) Science , vol.299 , pp. 256-259
    • Bonifati, V.1    Rizzu, P.2    van Baren, M.J.3
  • 12
    • 2942684871 scopus 로고    scopus 로고
    • The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
    • Canet-Avilés, R.M., Wilson, M., Miller, D., 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 (2004), 9103–9108.
    • (2004) Proc Natl Acad Sci USA , vol.101 , pp. 9103-9108
    • Canet-Avilés, R.M.1    Wilson, M.2    Miller, D.3
  • 13
    • 80052780004 scopus 로고    scopus 로고
    • Translation initiator EIF4G1 mutations in familial Parkinson disease
    • Chartier-Harlin, M.C., Dachsel, J., Vilariño-Güell, C., et al. Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 89 (2011), 398–406.
    • (2011) Am J Hum Genet , vol.89 , pp. 398-406
    • Chartier-Harlin, M.C.1    Dachsel, J.2    Vilariño-Güell, C.3
  • 14
    • 84876531457 scopus 로고    scopus 로고
    • PINK1-phosphorylated Mitofusin 2 is a Parkin receptor for culling damaged mitochondria
    • Chen, Y., Dorn, G.W., PINK1-phosphorylated Mitofusin 2 is a Parkin receptor for culling damaged mitochondria. Science 340 (2013), 471–475.
    • (2013) Science , vol.340 , pp. 471-475
    • Chen, Y.1    Dorn, G.W.2
  • 15
    • 52649172690 scopus 로고    scopus 로고
    • Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
    • Choi, J.M., Soo Woo, M., Ma, H., et al. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 9 (2008), 263–269.
    • (2008) Neurogenetics , vol.9 , pp. 263-269
    • Choi, J.M.1    Soo Woo, M.2    Ma, H.3
  • 16
    • 33745589773 scopus 로고    scopus 로고
    • Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
    • Clark, I.E., Dodson, M.W., Jiang, C., et al. Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441 (2006), 1162–1166.
    • (2006) Nature , vol.441 , pp. 1162-1166
    • Clark, I.E.1    Dodson, M.W.2    Jiang, C.3
  • 17
  • 18
    • 84887257119 scopus 로고    scopus 로고
    • NURR1 in Parkinson disease – from pathogenesis to therapeutic potential
    • Decressac, M., Volakakis, N., Björklund, A., et al. NURR1 in Parkinson disease – from pathogenesis to therapeutic potential. Nat Rev Neurol 9 (2013), 629–636.
    • (2013) Nat Rev Neurol , vol.9 , pp. 629-636
    • Decressac, M.1    Volakakis, N.2    Björklund, A.3
  • 19
    • 70349238601 scopus 로고    scopus 로고
    • Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease
    • De Mena, L., Coto, E., Sánchez-Ferrero, E., et al. Mutational screening of the mortalin gene (HSPA9) in Parkinson's disease. J Neural Transm 116 (2009), 1289–1293.
    • (2009) J Neural Transm , vol.116 , pp. 1289-1293
    • De Mena, L.1    Coto, E.2    Sánchez-Ferrero, E.3
  • 20
    • 80052419902 scopus 로고    scopus 로고
    • Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus
    • Devine, M., Ryten, M., Vodicka, M., et al. Parkinson's disease induced pluripotent stem cells with triplication of the α-synuclein locus. Nat Commun, 2, 2011, 440.
    • (2011) Nat Commun , vol.2 , pp. 440
    • Devine, M.1    Ryten, M.2    Vodicka, M.3
  • 21
    • 59649088353 scopus 로고    scopus 로고
    • FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
    • Di Fonzo, A., Dekker, M.C.J., Montagna, P., et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72 (2009), 240–245.
    • (2009) Neurology , vol.72 , pp. 240-245
    • Di Fonzo, A.1    Dekker, M.C.J.2    Montagna, P.3
  • 22
    • 33750282266 scopus 로고    scopus 로고
    • Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?
    • Djarmati, A., Hedrich, K., Svetel, M., et al. Heterozygous PINK1 mutations: a susceptibility factor for Parkinson disease?. Mov Disord 21 (2006), 1526–1530.
    • (2006) Mov Disord , vol.21 , pp. 1526-1530
    • Djarmati, A.1    Hedrich, K.2    Svetel, M.3
  • 24
    • 84907509735 scopus 로고    scopus 로고
    • Woman with X-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?
    • Domingo, A., Lee, L.V., Brüggemann, N., et al. Woman with X-linked recessive dystonia-parkinsonism: clue to the epidemiology of parkinsonism in Filipino women?. JAMA Neurol 71 (2014), 1177–1180.
    • (2014) JAMA Neurol , vol.71 , pp. 1177-1180
    • Domingo, A.1    Lee, L.V.2    Brüggemann, N.3
  • 25
    • 84962488952 scopus 로고    scopus 로고
    • Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing
    • Domingo, A., Erro, R., Lohmann, K., Novel dystonia genes: clues on disease mechanisms and the complexities of high-throughput sequencing. Mov Disord 31 (2016), 471–477.
    • (2016) Mov Disord , vol.31 , pp. 471-477
    • Domingo, A.1    Erro, R.2    Lohmann, K.3
  • 26
    • 84860487766 scopus 로고    scopus 로고
    • A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism
    • Edvardson, S., Cinnamon, Y., Ta-Shma, A., et al. A deleterious mutation in DNAJC6 encoding the neuronal-specific clathrin-uncoating co-chaperone auxilin, is associated with juvenile parkinsonism. PLoS One, 7, 2012, e36458.
    • (2012) PLoS One , vol.7
    • Edvardson, S.1    Cinnamon, Y.2    Ta-Shma, A.3
  • 27
    • 77953186796 scopus 로고    scopus 로고
    • Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit
    • Eggers, C., Schmidt, A., Hagenah, J., et al. Progression of subtle motor signs in PINK1 mutation carriers with mild dopaminergic deficit. Neurology 74 (2010), 1798–1805.
    • (2010) Neurology , vol.74 , pp. 1798-1805
    • Eggers, C.1    Schmidt, A.2    Hagenah, J.3
  • 28
    • 34249058118 scopus 로고    scopus 로고
    • Multiple roles of auxilin and Hsc70 in clathrin-mediated endocytosis
    • Eisenberg, E., Greene, L.E., Multiple roles of auxilin and Hsc70 in clathrin-mediated endocytosis. Traffic 8 (2007), 640–646.
    • (2007) Traffic , vol.8 , pp. 640-646
    • Eisenberg, E.1    Greene, L.E.2
  • 29
    • 36049038504 scopus 로고    scopus 로고
    • Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin
    • Exner, N., Treske, B., Paquet, D., et al. Loss-of-function of human PINK1 results in mitochondrial pathology and can be rescued by parkin. J Neurosci 27 (2007), 12413–12418.
    • (2007) J Neurosci , vol.27 , pp. 12413-12418
    • Exner, N.1    Treske, B.2    Paquet, D.3
  • 31
    • 84881556250 scopus 로고    scopus 로고
    • Mortalin mutations are not a frequent cause of early-onset Parkinson disease
    • Freimann, K., Zschiedrich, K., Brüggemann, N., et al. Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiol Aging 34 (2013), 2694.e19–2694.e20.
    • (2013) Neurobiol Aging , vol.34 , pp. 2694.e19-2694.e20
    • Freimann, K.1    Zschiedrich, K.2    Brüggemann, N.3
  • 32
    • 20444420103 scopus 로고    scopus 로고
    • An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family
    • Funayama, M., Hasegawa, K., Ohta, E., et al. An LRRK2 mutation as a cause for the parkinsonism in the original PARK8 family. Ann Neurol 57 (2005), 918–921.
    • (2005) Ann Neurol , vol.57 , pp. 918-921
    • Funayama, M.1    Hasegawa, K.2    Ohta, E.3
  • 33
    • 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 (2007), 273–275.
    • (2007) Neuroreport , vol.18 , pp. 273-275
    • Funayama, M.1    Li, Y.2    Tomiyama, H.3
  • 34
    • 84923226964 scopus 로고    scopus 로고
    • CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study
    • Funayama, M., Ohe, K., Amo, T., et al. CHCHD2 mutations in autosomal dominant late-onset Parkinson's disease: a genome-wide linkage and sequencing study. Lancet Neurol 14 (2015), 274–282.
    • (2015) Lancet Neurol , vol.14 , pp. 274-282
    • Funayama, M.1    Ohe, K.2    Amo, T.3
  • 35
    • 48649094639 scopus 로고    scopus 로고
    • Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study
    • Gelmetti, V., Ferraris, A., Brusa, L., et al. Late onset sporadic Parkinson's disease caused by PINK1 mutations: clinical and functional study. Mov Disord 23 (2008), 881–885.
    • (2008) Mov Disord , vol.23 , pp. 881-885
    • Gelmetti, V.1    Ferraris, A.2    Brusa, L.3
  • 36
    • 0035409575 scopus 로고    scopus 로고
    • Alpha-synuclein and neurodegenerative diseases
    • Goedert, M., Alpha-synuclein and neurodegenerative diseases. Nat Rev Neurosci 2 (2001), 492–501.
    • (2001) Nat Rev Neurosci , vol.2 , pp. 492-501
    • Goedert, M.1
  • 38
    • 33746916754 scopus 로고    scopus 로고
    • Translated mutation in the Nurr1 gene as a cause for Parkinson's disease
    • Grimes, D.A., Han, F., Panisset, M., et al. Translated mutation in the Nurr1 gene as a cause for Parkinson's disease. Mov Disord 21 (2006), 906–909.
    • (2006) Mov Disord , vol.21 , pp. 906-909
    • Grimes, D.A.1    Han, F.2    Panisset, M.3
  • 39
    • 77958535699 scopus 로고    scopus 로고
    • Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts
    • Grünewald, A., Voges, L., Rakovic, A., et al. Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS ONE, 5, 2010, e12962.
    • (2010) PLoS ONE , vol.5
    • Grünewald, A.1    Voges, L.2    Rakovic, A.3
  • 40
    • 84883818381 scopus 로고    scopus 로고
    • Next-generation phenotyping using the Parkin example: time to catch up with genetics
    • Grünewald, A., Kasten, M., Ziegler, A., et al. Next-generation phenotyping using the Parkin example: time to catch up with genetics. JAMA Neurol 70 (2013), 1186–1191.
    • (2013) JAMA Neurol , vol.70 , pp. 1186-1191
    • Grünewald, A.1    Kasten, M.2    Ziegler, A.3
  • 41
    • 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, H.F., Finsterer, J., Baets, J., et al. EFNS guidelines on the molecular diagnosis of neurogenetic disorders: general issues, Huntington's disease, Parkinson's disease and dystonias. Eur J Neurol 16 (2009), 777–785.
    • (2009) Eur J Neurol , vol.16 , pp. 777-785
    • Harbo, H.F.1    Finsterer, J.2    Baets, J.3
  • 42
    • 64249149785 scopus 로고    scopus 로고
    • Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes
    • Hasegawa, K., Stoessl, A.J., Yokoyama, T., et al. Familial parkinsonism: study of original Sagamihara PARK8 (I2020T) kindred with variable clinicopathologic outcomes. Park Relat Disord 15 (2009), 300–306.
    • (2009) Park Relat Disord , vol.15 , pp. 300-306
    • Hasegawa, K.1    Stoessl, A.J.2    Yokoyama, T.3
  • 43
    • 42049094200 scopus 로고    scopus 로고
    • Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
    • Haugarvoll, K., Rademakers, R., Kachergus, J.M., et al. Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease. Neurology 70 (2008), 1456–1460.
    • (2008) Neurology , vol.70 , pp. 1456-1460
    • Haugarvoll, K.1    Rademakers, R.2    Kachergus, J.M.3
  • 44
    • 50049104725 scopus 로고    scopus 로고
    • Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
    • Healy, D.G., Falchi, M., O'Sullivan, S.S., et al. Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7 (2008), 583–590.
    • (2008) Lancet Neurol , vol.7 , pp. 583-590
    • Healy, D.G.1    Falchi, M.2    O'Sullivan, S.S.3
  • 45
    • 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 (2006), 833–838.
    • (2006) Arch Neurol , vol.63 , pp. 833-838
    • Hedrich, K.1    Hagenah, J.2    Djarmati, A.3
  • 46
    • 84905856219 scopus 로고    scopus 로고
    • Lrrk2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance
    • Hentati, F., Trinh, J., Thomson, C., et al. Lrrk2 parkinsonism in Tunisia and Norway: a comparative analysis of disease penetrance. Neurology 83 (2014), 568–569.
    • (2014) Neurology , vol.83 , pp. 568-569
    • Hentati, F.1    Trinh, J.2    Thomson, C.3
  • 47
    • 77957183254 scopus 로고
    • A system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum: a contribution to the functions of the corpus striatum
    • Hunt, R., A system disease of the paralysis agitans type, characterized by atrophy of the motor cells of the corpus striatum: a contribution to the functions of the corpus striatum. Brain 40 (1917), 58–148.
    • (1917) Brain , vol.40 , pp. 58-148
    • Hunt, R.1
  • 48
    • 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, I.F., 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 (2005), 672–680.
    • (2005) Am J Hum Genet , vol.76 , pp. 672-680
    • Kachergus, J.1    Mata, I.F.2    Hulihan, M.3
  • 49
    • 84879601960 scopus 로고    scopus 로고
    • The many faces of alpha-synuclein mutations
    • Kasten, M., Klein, C., The many faces of alpha-synuclein mutations. Mov Disord 28 (2013), 697–701.
    • (2013) Mov Disord , vol.28 , pp. 697-701
    • Kasten, M.1    Klein, C.2
  • 50
    • 77951965139 scopus 로고    scopus 로고
    • Clinical and demographic characteristics of PINK1 mutation carriers—A meta-analysis
    • Kasten, M., Weichert, C., Lohmann, K., et al. Clinical and demographic characteristics of PINK1 mutation carriers—A meta-analysis. Mov Disord 25:7 (2010), 952–954.
    • (2010) Mov Disord , vol.25 , Issue.7 , pp. 952-954
    • Kasten, M.1    Weichert, C.2    Lohmann, K.3
  • 51
    • 84886642469 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 for beginners: six key questions
    • Kett, L.R., Dauer, W.T., Leucine-rich repeat kinase 2 for beginners: six key questions. Cold Spring Harb Perspect Med, 2, 2012, a009407.
    • (2012) Cold Spring Harb Perspect Med , vol.2 , pp. a009407
    • Kett, L.R.1    Dauer, W.T.2
  • 52
    • 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 (1998), 605–608.
    • (1998) Nature , vol.392 , pp. 605-608
    • Kitada, T.1    Asakawa, S.2    Hattori, N.3
  • 53
    • 34447307390 scopus 로고    scopus 로고
    • Impact of recent genetic findings in Parkinson's disease
    • Klein, C., Lohmann-Hedrich, K., Impact of recent genetic findings in Parkinson's disease. Curr Opin Neurol 20 (2007), 453–464.
    • (2007) Curr Opin Neurol , vol.20 , pp. 453-464
    • Klein, C.1    Lohmann-Hedrich, K.2
  • 54
    • 33644610520 scopus 로고    scopus 로고
    • The genetics of Parkinson disease: implications for neurological care
    • Klein, C., Schlossmacher, M.G., The genetics of Parkinson disease: implications for neurological care. Nat Clin Pract Neurol 2 (2006), 136–146.
    • (2006) Nat Clin Pract Neurol , vol.2 , pp. 136-146
    • Klein, C.1    Schlossmacher, M.G.2
  • 55
    • 36448964545 scopus 로고    scopus 로고
    • Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder
    • Klein, C., Schlossmacher, M.G., Parkinson disease, 10 years after its genetic revolution: multiple clues to a complex disorder. Neurology 69 (2007), 2093–2104.
    • (2007) Neurology , vol.69 , pp. 2093-2104
    • Klein, C.1    Schlossmacher, M.G.2
  • 57
    • 79951814563 scopus 로고    scopus 로고
    • From GWAS to clinical utility in Parkinson's disease
    • Klein, C., Ziegler, A., From GWAS to clinical utility in Parkinson's disease. Lancet 377 (2011), 613–614.
    • (2011) Lancet , vol.377 , pp. 613-614
    • Klein, C.1    Ziegler, A.2
  • 58
    • 34250372427 scopus 로고    scopus 로고
    • Deciphering the role of heterozygous mutations in genes associated with parkinsonism
    • Klein, C., Lohmann-Hedrich, K., Rogaeva, E., et al. Deciphering the role of heterozygous mutations in genes associated with parkinsonism. Lancet Neurol 6 (2007), 652–662.
    • (2007) Lancet Neurol , vol.6 , pp. 652-662
    • Klein, C.1    Lohmann-Hedrich, K.2    Rogaeva, E.3
  • 59
    • 84874271513 scopus 로고    scopus 로고
    • DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability
    • Köroğlu, Ç., Baysalb, L., Cetinkaya, M., et al. DNAJC6 is responsible for juvenile parkinsonism with phenotypic variability. Park Relat Disord 19 (2013), 320–324.
    • (2013) Park Relat Disord , vol.19 , pp. 320-324
    • Köroğlu, Ç.1    Baysalb, L.2    Cetinkaya, M.3
  • 60
    • 84881610810 scopus 로고    scopus 로고
    • The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures
    • Krebs, C.E., Karkheiran, S., Powell, J.C., et al. The Sac1 domain of SYNJ1 identified mutated in a family with early-onset progressive parkinsonism with generalized seizures. Human Mutat 34 (2013), 1200–1207.
    • (2013) Human Mutat , vol.34 , pp. 1200-1207
    • Krebs, C.E.1    Karkheiran, S.2    Powell, J.C.3
  • 61
    • 0031990490 scopus 로고    scopus 로고
    • AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease
    • Krüger, R., Kuhn, W., Müller, T., et al. AlaSOPro mutation in the gene encoding α-synuclein in Parkinson's disease. Nat Genet 18 (1998), 106–108.
    • (1998) Nat Genet , vol.18 , pp. 106-108
    • Krüger, R.1    Kuhn, W.2    Müller, T.3
  • 62
    • 79952900158 scopus 로고    scopus 로고
    • A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease
    • Krüger, R., Sharma, M., Reiss, O., et al. A large-scale genetic association study to evaluate the contribution of Omi/HtrA2 (PARK13) to Parkinson's disease. Neurobiol Aging 32 (2011), 548.e9–548.e18.
    • (2011) Neurobiol Aging , vol.32 , pp. 548.e9-548.e18
    • Krüger, R.1    Sharma, M.2    Reiss, O.3
  • 63
    • 84863643572 scopus 로고    scopus 로고
    • Genetics of Parkinson disease and other movement disorders
    • Kumar, K.R., Lohmann, K., Klein, C., Genetics of Parkinson disease and other movement disorders. Curr Opinion Neurol 25 (2012), 466–474.
    • (2012) Curr Opinion Neurol , vol.25 , pp. 466-474
    • Kumar, K.R.1    Lohmann, K.2    Klein, C.3
  • 64
    • 41649096247 scopus 로고    scopus 로고
    • Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease
    • Lautier, C., Goldwurm, S., Dürr, A., et al. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am J Hum Genet 22 (2008), 822–833.
    • (2008) Am J Hum Genet , vol.22 , pp. 822-833
    • Lautier, C.1    Goldwurm, S.2    Dürr, A.3
  • 65
    • 0037226797 scopus 로고    scopus 로고
    • Mutations in NR4A2 associated with familial Parkinson disease
    • Le, W.D., Xu, P., Jankovic, J., et al. Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet 33 (2003), 85–89.
    • (2003) Nat Genet , vol.33 , pp. 85-89
    • Le, W.D.1    Xu, P.2    Jankovic, J.3
  • 66
    • 33749240943 scopus 로고    scopus 로고
    • Mechanisms of Parkinson's disease linked to pathological α-synuclein: new targets for drug discovery
    • Lee, V.M.Y., Trojanowski, J.Q., Mechanisms of Parkinson's disease linked to pathological α-synuclein: new targets for drug discovery. Neuron 52 (2006), 33–38.
    • (2006) Neuron , vol.52 , pp. 33-38
    • Lee, V.M.Y.1    Trojanowski, J.Q.2
  • 67
    • 84982253941 scopus 로고    scopus 로고
    • Analysis of protein-coding genetic variation in 60,706 humans
    • Lek, M., Karczewski, J., Minikel, E., et al. Analysis of protein-coding genetic variation in 60,706 humans. Nature 536 (2016), 285–291.
    • (2016) Nature , vol.536 , pp. 285-291
    • Lek, M.1    Karczewski, J.2    Minikel, E.3
  • 68
    • 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 (1998), 451–452.
    • (1998) Nature , vol.395 , pp. 451-452
    • Leroy, E.1    Boyer, R.2    Auburger, G.3
  • 69
    • 79956324138 scopus 로고    scopus 로고
    • Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease
    • Lesage, S., Anheim, M., Condroyer, C., et al. Large-scale screening of the Gaucher's disease-related glucocerebrosidase gene in Europeans with Parkinson's disease. Human Mol Genet 20 (2011), 202–210.
    • (2011) Human Mol Genet , vol.20 , pp. 202-210
    • Lesage, S.1    Anheim, M.2    Condroyer, C.3
  • 70
    • 84863469671 scopus 로고    scopus 로고
    • EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?
    • Lesage, S., Condroyer, C., Klebe, S., et al. EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants?. Neurobiol Aging 33 (2012), 2233.e1–2233.e5.
    • (2012) Neurobiol Aging , vol.33 , pp. 2233.e1-2233.e5
    • Lesage, S.1    Condroyer, C.2    Klebe, S.3
  • 71
    • 84959881559 scopus 로고    scopus 로고
    • Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy
    • Lesage, S., Drouet, V., Majounie, E., et al. Loss of VPS13C function in autosomal-recessive parkinsonism causes mitochondrial dysfunction and increases PINK1/Parkin-dependent mitophagy. Am J Hum Genet 98 (2016), 500–513.
    • (2016) Am J Hum Genet , vol.98 , pp. 500-513
    • Lesage, S.1    Drouet, V.2    Majounie, E.3
  • 72
    • 59849104963 scopus 로고    scopus 로고
    • DJ-1 protects against dopamine toxicity
    • Lev, N., Ickowicz, D., Barhum, Y., et al. DJ-1 protects against dopamine toxicity. J Neural Transm 116 (2009), 151–160.
    • (2009) J Neural Transm , vol.116 , pp. 151-160
    • Lev, N.1    Ickowicz, D.2    Barhum, Y.3
  • 73
    • 84859339977 scopus 로고    scopus 로고
    • Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database
    • Lill, C.M., Roehr, J.T., McQueen, M.B., et al. Comprehensive research synopsis and systematic meta-analyses in Parkinson's disease genetics: the PDGene database. PLoS Genet, 8, 2012, e1002548.
    • (2012) PLoS Genet , vol.8
    • Lill, C.M.1    Roehr, J.T.2    McQueen, M.B.3
  • 74
    • 84919865470 scopus 로고    scopus 로고
    • Next generation sequencing and the future of genetic diagnosis
    • Lohmann, K., Klein, C., Next generation sequencing and the future of genetic diagnosis. Neurotherapeutics 11 (2014), 699–707.
    • (2014) Neurotherapeutics , vol.11 , pp. 699-707
    • Lohmann, K.1    Klein, C.2
  • 75
    • 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 (2003), 176–185.
    • (2003) Ann Neurol , vol.54 , pp. 176-185
    • Lohmann, E.1    Periquet, M.2    Bonifati, V.3
  • 76
    • 84887984409 scopus 로고    scopus 로고
    • Modeling Lewy pathology propagation in Parkinson's disease
    • Luk, K.C., Lee, V.M.Y., Modeling Lewy pathology propagation in Parkinson's disease. Park Relat Disord 20 (2014), S85–S87.
    • (2014) Park Relat Disord , vol.20 , pp. S85-S87
    • Luk, K.C.1    Lee, V.M.Y.2
  • 77
    • 84899476119 scopus 로고    scopus 로고
    • Guidelines for investigating causality of sequence variants in human disease
    • MacArthur, D.G., Manolio, T.A., Dimmock, D.P., et al. Guidelines for investigating causality of sequence variants in human disease. Nature 508 (2014), 469–476.
    • (2014) Nature , vol.508 , pp. 469-476
    • MacArthur, D.G.1    Manolio, T.A.2    Dimmock, D.P.3
  • 78
    • 43049119301 scopus 로고    scopus 로고
    • Structural effects of Parkinson's disease linked DJ-1 mutations
    • Malgieri, G., Eliezer, D., Structural effects of Parkinson's disease linked DJ-1 mutations. Prot Sci 17 (2008), 855–868.
    • (2008) Prot Sci , vol.17 , pp. 855-868
    • Malgieri, G.1    Eliezer, D.2
  • 79
    • 68149156531 scopus 로고    scopus 로고
    • Oxidative modifications, mitochondrial dysfunction, and impaired protein degradation in Parkinson's disease: how neurons are lost in the Bermuda triangle
    • Malkus, K., Tsika, E., Ischiropoulos, H., Oxidative modifications, mitochondrial dysfunction, and impaired protein degradation in Parkinson's disease: how neurons are lost in the Bermuda triangle. Molecular Neurodegeneration, 4, 2009, 24.
    • (2009) Molecular Neurodegeneration , vol.4 , pp. 24
    • Malkus, K.1    Tsika, E.2    Ischiropoulos, H.3
  • 80
    • 33746869343 scopus 로고    scopus 로고
    • Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease
    • Maraganore, D.M., de Andrade, M., Elbaz, A., et al. Collaborative analysis of α-synuclein gene promoter variability and Parkinson disease. JAMA 296 (2006), 661–670.
    • (2006) JAMA , vol.296 , pp. 661-670
    • Maraganore, D.M.1    de Andrade, M.2    Elbaz, A.3
  • 81
    • 84860811822 scopus 로고    scopus 로고
    • Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples
    • Marras, C., Lang, A., Lohmann, K., et al. Fixing the broken system of genetic locus symbols: Parkinson disease and dystonia as examples. Neurology 78 (2012), 1016–1024.
    • (2012) Neurology , vol.78 , pp. 1016-1024
    • Marras, C.1    Lang, A.2    Lohmann, K.3
  • 82
    • 12444281013 scopus 로고    scopus 로고
    • Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease
    • Marx, F.P., Holzmann, C., Strauss, K.M., et al. Identification and functional characterization of a novel R621C mutation in the synphilin-1 gene in Parkinson's disease. Hum Mol Genet 12 (2003), 1223–1231.
    • (2003) Hum Mol Genet , vol.12 , pp. 1223-1231
    • Marx, F.P.1    Holzmann, C.2    Strauss, K.M.3
  • 83
    • 33646151866 scopus 로고    scopus 로고
    • LRRK2 in Parkinson's disease: protein domains and functional insights
    • Mata, I.F., Wedemeyer, W.J., Farrer, M.J., et al. LRRK2 in Parkinson's disease: protein domains and functional insights. Trends Neurosci 29 (2006), 286–293.
    • (2006) Trends Neurosci , vol.29 , pp. 286-293
    • Mata, I.F.1    Wedemeyer, W.J.2    Farrer, M.J.3
  • 84
    • 40849120549 scopus 로고    scopus 로고
    • Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders
    • Mata, I.F., Samli, A., Schneer, S., et al. Glucocerebrosidase gene mutations: a risk factor for Lewy body disorders. Arch Neurol 65 (2008), 379–382.
    • (2008) Arch Neurol , vol.65 , pp. 379-382
    • Mata, I.F.1    Samli, A.2    Schneer, S.3
  • 85
    • 79960009804 scopus 로고    scopus 로고
    • Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies
    • Mazzulli, J.R., Xu, Y.H., Sun, Y., et al. Gaucher disease glucocerebrosidase and α-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146 (2011), 37–52.
    • (2011) Cell , vol.146 , pp. 37-52
    • Mazzulli, J.R.1    Xu, Y.H.2    Sun, Y.3
  • 86
    • 84906663944 scopus 로고    scopus 로고
    • Parkinson's disease in GTP cyclohydrolase 1 mutation carriers
    • Mencacci, N.E., Isiaias, I.U., Reich, M.M., et al. Parkinson's disease in GTP cyclohydrolase 1 mutation carriers. Brain 137 (2014), 2480–2492.
    • (2014) Brain , vol.137 , pp. 2480-2492
    • Mencacci, N.E.1    Isiaias, I.U.2    Reich, M.M.3
  • 87
    • 16844380834 scopus 로고    scopus 로고
    • A case of late onset sporadic Parkinson's disease with an A53T mutation in α-synuclein
    • Michell, A.W., Barker, R.A., Raha-Chowdhury, R., et al. A case of late onset sporadic Parkinson's disease with an A53T mutation in α-synuclein. J Neurol Neurosurg Psych 76 (2005), 596–597.
    • (2005) J Neurol Neurosurg Psych , vol.76 , pp. 596-597
    • Michell, A.W.1    Barker, R.A.2    Raha-Chowdhury, R.3
  • 88
    • 2442700253 scopus 로고    scopus 로고
    • α-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication
    • Miller, D.W., Hague, S.M., Clarimon, J., et al. α-Synuclein in blood and brain from familial Parkinson disease with SNCA locus triplication. Neurology 62 (2004), 1835–1838.
    • (2004) Neurology , vol.62 , pp. 1835-1838
    • Miller, D.W.1    Hague, S.M.2    Clarimon, J.3
  • 89
    • 44449165118 scopus 로고    scopus 로고
    • Retromer deficiency observed in Alzheimer's disease causes hippocampal dysfunction, neurodegeneration, and Aβ accumulation
    • Muhammad, A., Flores, I., Zhang, H., et al. Retromer deficiency observed in Alzheimer's disease causes hippocampal dysfunction, neurodegeneration, and Aβ accumulation. Proc Natl Acad Sci 105 (2008), 7327–7332.
    • (2008) Proc Natl Acad Sci , vol.105 , pp. 7327-7332
    • Muhammad, A.1    Flores, I.2    Zhang, H.3
  • 90
    • 84939599004 scopus 로고    scopus 로고
    • Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease
    • Nalls, M.A., Pankratz, N., Lill, C.M., et al. Large-scale meta-analysis of genome-wide association data identifies six new risk loci for Parkinson's disease. Nat Genet 46 (2014), 989–993.
    • (2014) Nat Genet , vol.46 , pp. 989-993
    • Nalls, M.A.1    Pankratz, N.2    Lill, C.M.3
  • 91
    • 70449841367 scopus 로고    scopus 로고
    • Expanding the clinical phenotype of SNCA duplication carriers
    • Nishioka, K., Ross, O., Ishii, K., et al. Expanding the clinical phenotype of SNCA duplication carriers. Mov Disord 24 (2009), 1811–1819.
    • (2009) Mov Disord , vol.24 , pp. 1811-1819
    • Nishioka, K.1    Ross, O.2    Ishii, K.3
  • 93
    • 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, S., Cruts, M., et al. Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 31 (2010), 763–780.
    • (2010) Hum Mutat , vol.31 , pp. 763-780
    • Nuytemans, K.1    Theuns, S.2    Cruts, M.3
  • 94
    • 31344439221 scopus 로고    scopus 로고
    • LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
    • Ozelius, L., Senthil, J., Saunders-Pullman, R., et al. LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 354 (2006), 424–425.
    • (2006) N Engl J Med , vol.354 , pp. 424-425
    • Ozelius, L.1    Senthil, J.2    Saunders-Pullman, R.3
  • 95
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisán-Ruíz, C., Jain, S., Evans, E.W., et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004), 595–600.
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisán-Ruíz, C.1    Jain, S.2    Evans, E.W.3
  • 96
    • 11144241275 scopus 로고    scopus 로고
    • α-Synuclein pathology does not predict extrapyramidal symptoms or dementia
    • Parkkinen, L., Kauppinen, T., Pirttilä, T., α-Synuclein pathology does not predict extrapyramidal symptoms or dementia. Ann Neurol 57 (2005), 82–91.
    • (2005) Ann Neurol , vol.57 , pp. 82-91
    • Parkkinen, L.1    Kauppinen, T.2    Pirttilä, T.3
  • 98
    • 0030744876 scopus 로고    scopus 로고
    • Mutation in the α-synuclein gene identified in families with Parkinson's disease
    • Polymeropoulos, M.H., Lavedan, C., Leroy, E., et al. Mutation in the α-synuclein gene identified in families with Parkinson's disease. Science 276 (1997), 2045–2047.
    • (1997) Science , vol.276 , pp. 2045-2047
    • Polymeropoulos, M.H.1    Lavedan, C.2    Leroy, E.3
  • 99
    • 84862689309 scopus 로고    scopus 로고
    • The neuropathology of genetic Parkinson's disease
    • Poulopoulos, M., Levy, O.A., Alcalay, R.N., The neuropathology of genetic Parkinson's disease. Mov Disord 27 (2012), 831–842.
    • (2012) Mov Disord , vol.27 , pp. 831-842
    • Poulopoulos, M.1    Levy, O.A.2    Alcalay, R.N.3
  • 100
    • 24644462201 scopus 로고    scopus 로고
    • Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
    • Pramstaller, P., Schlossmacher, M., Jacques, T., et al. Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers. Ann Neurol 58 (2005), 411–422.
    • (2005) Ann Neurol , vol.58 , pp. 411-422
    • Pramstaller, P.1    Schlossmacher, M.2    Jacques, T.3
  • 101
    • 84876226920 scopus 로고    scopus 로고
    • A novel α-synuclein missense mutation in Parkinson disease
    • Proukakis, C., Dudzik, C.G., Brier, T., et al. A novel α-synuclein missense mutation in Parkinson disease. Neurology 80 (2013), 1062–1064.
    • (2013) Neurology , vol.80 , pp. 1062-1064
    • Proukakis, C.1    Dudzik, C.G.2    Brier, T.3
  • 102
    • 70350149351 scopus 로고    scopus 로고
    • A Swedish family with de novo α-synuclein A53T mutation: evidence for early cortical dysfunction
    • Puschmann, A., Ross, O.A., Vilariño-Güell, C., et al. A Swedish family with de novo α-synuclein A53T mutation: evidence for early cortical dysfunction. Park Relat Disord 15 (2009), 627–632.
    • (2009) Park Relat Disord , vol.15 , pp. 627-632
    • Puschmann, A.1    Ross, O.A.2    Vilariño-Güell, C.3
  • 103
    • 84881612311 scopus 로고    scopus 로고
    • Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism
    • Quadri, M., Fang, M., Picillo, M., et al. Mutation in the SYNJ1 gene associated with autosomal recessive, early-onset parkinsonism. Hum Mutat 34 (2013), 1208–1215.
    • (2013) Hum Mutat , vol.34 , pp. 1208-1215
    • Quadri, M.1    Fang, M.2    Picillo, M.3
  • 104
    • 79952369437 scopus 로고    scopus 로고
    • Mutations in PINK1 and Parkin impair ubiquitination of mitofusins in human fibroblasts
    • Rakovic, A., Grünewald, A., Kottwitz, J., et al. Mutations in PINK1 and Parkin impair ubiquitination of mitofusins in human fibroblasts. PLoS One, 6, 2011, e16746.
    • (2011) PLoS One , vol.6
    • Rakovic, A.1    Grünewald, A.2    Kottwitz, J.3
  • 105
    • 84927547966 scopus 로고    scopus 로고
    • Phenotypic variability of PINK1 expression: 12 years’ clinical follow-up of two Italian families
    • (Epub ahead of print)
    • Ricciardi, L., Petrucci, S., Guidubaldi, A., et al. Phenotypic variability of PINK1 expression: 12 years’ clinical follow-up of two Italian families. Mov Disord 29:12 (2014), 1561–1566 (Epub ahead of print).
    • (2014) Mov Disord , vol.29 , Issue.12 , pp. 1561-1566
    • Ricciardi, L.1    Petrucci, S.2    Guidubaldi, A.3
  • 106
    • 84866164284 scopus 로고    scopus 로고
    • α-Synuclein genetic variants predict faster motor symptom progression in idiopathic Parkinson disease
    • Ritz, B., Rhodes, S., Bordelon, Y., et al. α-Synuclein genetic variants predict faster motor symptom progression in idiopathic Parkinson disease. PLoS One, 7, 2012, e36199.
    • (2012) PLoS One , vol.7
    • Ritz, B.1    Rhodes, S.2    Bordelon, Y.3
  • 107
    • 32044466285 scopus 로고    scopus 로고
    • Lrrk2 and Lewy body disease
    • Ross, O.A., Toft, M., Whittle, A., Lrrk2 and Lewy body disease. Ann Neurol 59 (2006), 388–393.
    • (2006) Ann Neurol , vol.59 , pp. 388-393
    • Ross, O.A.1    Toft, M.2    Whittle, A.3
  • 108
    • 67549117509 scopus 로고    scopus 로고
    • Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism
    • Ross, O.A., Spanakib, C., Griffith, A., Haplotype analysis of Lrrk2 R1441H carriers with parkinsonism. Park Relat Disord 15 (2009), 466–467.
    • (2009) Park Relat Disord , vol.15 , pp. 466-467
    • Ross, O.A.1    Spanakib, C.2    Griffith, A.3
  • 109
    • 80052967403 scopus 로고    scopus 로고
    • Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study
    • Ross, O.A., Soto-Ortolaza, A.I., Heckman, M.G., et al. Association of LRRK2 exonic variants with susceptibility to Parkinson's disease: a case-control study. Lancet Neurol 10 (2011), 898–908.
    • (2011) Lancet Neurol , vol.10 , pp. 898-908
    • Ross, O.A.1    Soto-Ortolaza, A.I.2    Heckman, M.G.3
  • 110
    • 77950855127 scopus 로고    scopus 로고
    • PINK1-linked parkinsonism is associated with Lewy body pathology
    • Samaranch, L., Lorenzo-Betancor, O., Arbelo, J.M., et al. PINK1-linked parkinsonism is associated with Lewy body pathology. Brain 133 (2010), 1128–1142.
    • (2010) Brain , vol.133 , pp. 1128-1142
    • Samaranch, L.1    Lorenzo-Betancor, O.2    Arbelo, J.M.3
  • 111
    • 84860510280 scopus 로고    scopus 로고
    • Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease
    • Sánchez-Danés, A., Richaud-Patin, Y., Carballo-Carbajal, I., et al. Disease-specific phenotypes in dopamine neurons from human iPS-based models of genetic and sporadic Parkinson's disease. EMBO Mol Med 4 (2012), 380–395.
    • (2012) EMBO Mol Med , vol.4 , pp. 380-395
    • Sánchez-Danés, A.1    Richaud-Patin, Y.2    Carballo-Carbajal, I.3
  • 112
    • 80051513364 scopus 로고    scopus 로고
    • Olfactory dysfunction in LRRK2 G2019S mutation carriers
    • Saunders-Pullman, R., Stanley, K., Wang, C., et al. Olfactory dysfunction in LRRK2 G2019S mutation carriers. Neurology 77 (2011), 319–324.
    • (2011) Neurology , vol.77 , pp. 319-324
    • Saunders-Pullman, R.1    Stanley, K.2    Wang, C.3
  • 114
    • 84870287920 scopus 로고    scopus 로고
    • A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
    • Sharma, M., Ioannidis, J.P.A., Aasly, J.O., et al. A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49 (2012), 721–726.
    • (2012) J Med Genet , vol.49 , pp. 721-726
    • Sharma, M.1    Ioannidis, J.P.A.2    Aasly, J.O.3
  • 115
    • 44449112128 scopus 로고    scopus 로고
    • Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500K SNP arrays
    • Shojaee, S., Sina, F., Banihosseini, S., et al. Genome-wide linkage analysis of a parkinsonian-pyramidal syndrome pedigree by 500K SNP arrays. Am J Hum Genet 82 (2008), 1375–1384.
    • (2008) Am J Hum Genet , vol.82 , pp. 1375-1384
    • Shojaee, S.1    Sina, F.2    Banihosseini, S.3
  • 116
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • Sidransky, E., Nalls, M.A., Aasly, J.O., et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361 (2009), 1651–1661.
    • (2009) N Engl J Med , vol.361 , pp. 1651-1661
    • Sidransky, E.1    Nalls, M.A.2    Aasly, J.O.3
  • 117
    • 0242300619 scopus 로고    scopus 로고
    • α-Synuclein locus triplication causes Parkinson's disease
    • Singleton, A.B., Farrer, M., Johnson, J., et al. α-Synuclein locus triplication causes Parkinson's disease. Science, 302, 2003, 841.
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1    Farrer, M.2    Johnson, J.3
  • 119
    • 84883559967 scopus 로고    scopus 로고
    • “Atypical” atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy – diagnostic guide
    • Stamelou, M., Quinn, N.P., Bhatia, K., “Atypical” atypical parkinsonism: new genetic conditions presenting with features of progressive supranuclear palsy, corticobasal degeneration, or multiple system atrophy – diagnostic guide. Mov Disord 28 (2013), 1184–1199.
    • (2013) Mov Disord , vol.28 , pp. 1184-1199
    • Stamelou, M.1    Quinn, N.P.2    Bhatia, K.3
  • 120
    • 25444498785 scopus 로고    scopus 로고
    • Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
    • Strauss, K.M., Martins, L.M., Plun-Favreau, H., et al. Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum Mol Genet 14 (2005), 2099–2111.
    • (2005) Hum Mol Genet , vol.14 , pp. 2099-2111
    • Strauss, K.M.1    Martins, L.M.2    Plun-Favreau, H.3
  • 121
    • 84871256724 scopus 로고    scopus 로고
    • Dopa responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs
    • Tadic, V., Kasten, M., Brüggemann, N., Dopa responsive dystonia revisited: diagnostic delay, residual signs, and nonmotor signs. Arch Neurol 69 (2012), 1558–1562.
    • (2012) Arch Neurol , vol.69 , pp. 1558-1562
    • Tadic, V.1    Kasten, M.2    Brüggemann, N.3
  • 122
    • 20644455323 scopus 로고    scopus 로고
    • The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
    • Tan, E.K., Shena, H., Tan, L.C.S., et al. The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 384 (2005), 327–329.
    • (2005) Neurosci Lett , vol.384 , pp. 327-329
    • Tan, E.K.1    Shena, H.2    Tan, L.C.S.3
  • 123
    • 70349329841 scopus 로고    scopus 로고
    • LRRK2 G2385R modulates age at onset in Parkinson's disease: a multi-center pooled analysis
    • Tan, E.K., Peng, R., Wu, Y.R., et al. LRRK2 G2385R modulates age at onset in Parkinson's disease: a multi-center pooled analysis. Am J Med Genet Part B: Neuropsych Genet 150B (2009), 1022–1023.
    • (2009) Am J Med Genet Part B: Neuropsych Genet , vol.150B , pp. 1022-1023
    • Tan, E.K.1    Peng, R.2    Wu, Y.R.3
  • 124
    • 0033608187 scopus 로고    scopus 로고
    • Parkinson disease in twins: an etiologic study
    • Tanner, C.M., Ottman, R., Goldman, S.M., et al. Parkinson disease in twins: an etiologic study. JAMA 281 (1999), 341–346.
    • (1999) JAMA , vol.281 , pp. 341-346
    • Tanner, C.M.1    Ottman, R.2    Goldman, S.M.3
  • 125
    • 32044458576 scopus 로고    scopus 로고
    • LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?
    • Taylor, J.P., Mata, I.F., Farrer, M.J., LRRK2: a common pathway for parkinsonism, pathogenesis and prevention?. Trends Mol Med 12 (2006), 76–82.
    • (2006) Trends Mol Med , vol.12 , pp. 76-82
    • Taylor, J.P.1    Mata, I.F.2    Farrer, M.J.3
  • 126
    • 84918559074 scopus 로고    scopus 로고
    • Disease penetrance of late-onset parkinsonism: a meta-analysis
    • Trinh, J., Guella, I., Farrer, M.J., Disease penetrance of late-onset parkinsonism: a meta-analysis. JAMA Neurol 71 (2014), 1535–1539.
    • (2014) JAMA Neurol , vol.71 , pp. 1535-1539
    • Trinh, J.1    Guella, I.2    Farrer, M.J.3
  • 127
    • 84871226620 scopus 로고    scopus 로고
    • GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology
    • Tsuang, D., Leverenz, J.B., Lopez, O.L., et al. GBA mutations increase risk for Lewy body disease with and without Alzheimer disease pathology. Neurology 79 (2012), 1944–1950.
    • (2012) Neurology , vol.79 , pp. 1944-1950
    • Tsuang, D.1    Leverenz, J.B.2    Lopez, O.L.3
  • 128
    • 84899971096 scopus 로고    scopus 로고
    • Zn2 + dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation
    • Tsunemi, T., Krainc, D., Zn2 + dyshomeostasis caused by loss of ATP13A2/PARK9 leads to lysosomal dysfunction and alpha-synuclein accumulation. Hum Mol Genet 23 (2014), 2791–2801.
    • (2014) Hum Mol Genet , vol.23 , pp. 2791-2801
    • Tsunemi, T.1    Krainc, D.2
  • 129
    • 84861530514 scopus 로고    scopus 로고
    • Study of the genetic variability in a Parkinson's disease gene: EIF4G1
    • Tuccia, A., Charlesworth, G., Sheerin, U., et al. Study of the genetic variability in a Parkinson's disease gene: EIF4G1. Neurosci Lett 518 (2012), 19–22.
    • (2012) Neurosci Lett , vol.518 , pp. 19-22
    • Tuccia, A.1    Charlesworth, G.2    Sheerin, U.3
  • 130
    • 2442668926 scopus 로고    scopus 로고
    • Hereditary early-onset Parkinson's disease caused by mutations in PINK1
    • Valente, E.M., Abou-Sleiman, P.M., Caputo, V., et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004), 1158–1160.
    • (2004) Science , vol.304 , pp. 1158-1160
    • Valente, E.M.1    Abou-Sleiman, P.M.2    Caputo, V.3
  • 133
    • 84906663946 scopus 로고    scopus 로고
    • Hereditary dystonia and parkinsonism: two sides of the same coin?
    • Weissbach, A., Klein, C., Hereditary dystonia and parkinsonism: two sides of the same coin?. Brain 137 (2014), 2402–2404.
    • (2014) Brain , vol.137 , pp. 2402-2404
    • Weissbach, A.1    Klein, C.2
  • 134
    • 77449098331 scopus 로고    scopus 로고
    • Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation
    • Wider, C., Dickson, D.W., Wszolek, Z.K., Leucine-rich repeat kinase 2 gene-associated disease: redefining genotype-phenotype correlation. Neurodegen Dis 7 (2010), 175–179.
    • (2010) Neurodegen Dis , vol.7 , pp. 175-179
    • Wider, C.1    Dickson, D.W.2    Wszolek, Z.K.3
  • 135
    • 84885584019 scopus 로고    scopus 로고
    • Parkinsonian syndromes
    • Williams, D.R., Litvan, I., Parkinsonian syndromes. Continuum 19 (2013), 1189–1212.
    • (2013) Continuum , vol.19 , pp. 1189-1212
    • Williams, D.R.1    Litvan, I.2
  • 136
    • 84919650942 scopus 로고    scopus 로고
    • Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology
    • Wilson, G.R., Sim, J.C.H., McLean, C., et al. Mutations in RAB39B cause X-linked intellectual disability and early-onset Parkinson disease with α-synuclein pathology. Am J Hum Genet 95 (2014), 729–735.
    • (2014) Am J Hum Genet , vol.95 , pp. 729-735
    • Wilson, G.R.1    Sim, J.C.H.2    McLean, C.3
  • 137
    • 35848966980 scopus 로고    scopus 로고
    • α-Synuclein and Parkinson disease susceptibility
    • Winkler, S., Hagenah, J., Lincoln, S., et al. α-Synuclein and Parkinson disease susceptibility. Neurology 69 (2007), 1745–1750.
    • (2007) Neurology , vol.69 , pp. 1745-1750
    • Winkler, S.1    Hagenah, J.2    Lincoln, S.3
  • 138
    • 80051553325 scopus 로고    scopus 로고
    • Heritability of Parkinson disease in Swedish twins: a longitudinal study
    • 1923.e1-8
    • Wirdefeldt, K., Gatz, M., Reynolds, C.A., et al. Heritability of Parkinson disease in Swedish twins: a longitudinal study. Neurobiol Dis, 32, 2011 1923.e1-8.
    • (2011) Neurobiol Dis , vol.32
    • Wirdefeldt, K.1    Gatz, M.2    Reynolds, C.A.3
  • 140
    • 84892946615 scopus 로고    scopus 로고
    • Profiling of Parkin-binding partners using tandem affinity purification
    • Zanon, A., Rakovic, A., Blankenburg, H., et al. Profiling of Parkin-binding partners using tandem affinity purification. PLoS ONE, 8, 2013, e78648.
    • (2013) PLoS ONE , vol.8
    • Zanon, A.1    Rakovic, A.2    Blankenburg, H.3
  • 141
    • 10744230149 scopus 로고    scopus 로고
    • The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia
    • Zarranz, J.J., Alegre, J., Gómez-Esteban, J.C., et al. The new mutation, E46K, of α-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55 (2004), 164–173.
    • (2004) Ann Neurol , vol.55 , pp. 164-173
    • Zarranz, J.J.1    Alegre, J.2    Gómez-Esteban, J.C.3
  • 142
    • 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 44 (2004), 601–607.
    • (2004) Neuron , vol.44 , pp. 601-607
    • Zimprich, A.1    Biskup, S.2    Leitner, P.3
  • 143
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich, A., Benet-Pagès, A., Struhal, W., A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am J Hum Genet 89 (2011), 168–175.
    • (2011) Am J Hum Genet , vol.89 , pp. 168-175
    • Zimprich, A.1    Benet-Pagès, A.2    Struhal, W.3


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.