메뉴 건너뛰기




Volumn 13, Issue 7, 2012, Pages 453-464

Use of next-generation sequencing and other whole-genome strategies to dissect neurological disease

Author keywords

[No Author keywords available]

Indexed keywords

ABC TRANSPORTER A1; ALPHA SYNUCLEIN; APOLIPOPROTEIN E; CD2 ANTIGEN; CD33 ANTIGEN; CLUSTERIN; COMPLEMENT COMPONENT C3B RECEPTOR; COMPLEMENT COMPONENT C4B; EPHRIN RECEPTOR A1; HISTONE DEACETYLASE 9; INTERFERON INDUCIBLE DOUBLE STRANDED RNA DEPENDENT ACTIVATOR; LEUCINE RICH REPEAT KINASE 2; METHYLCROTONOYL COENZYME A CARBOXYLASE; PEROXISOME PROLIFERATOR ACTIVATED RECEPTOR GAMMA COACTIVATOR 1ALPHA; PHOSPHATIDYLINOSITOL BINDING CLATHRIN ASSEMBLY PROTEIN; PHOSPHOLIPASE A2; PROTEIN; PROTEIN KINASE WNK1; RETINOIC ACID INDUCED 1; SCAVENGER RECEPTOR B; SCAVENGER RECEPTOR CLASS B2; SERINE THREONINE KINASE 39; STARCH BINDING DOMAIN 1; STEM CELL ANTIGEN 1; STEROL REGULATORY ELEMENT BINDING PROTEIN 1; SYNAPTOTAGMIN XIV; TAU PROTEIN; UNCLASSIFIED DRUG; UNINDEXED DRUG; VACUOLAR PROTEIN SORTING ASSOCIATED PROTEIN 35; VELAFERMIN;

EID: 84862605504     PISSN: 1471003X     EISSN: 14710048     Source Type: Journal    
DOI: 10.1038/nrn3271     Document Type: Review
Times cited : (93)

References (69)
  • 1
    • 0037040454 scopus 로고    scopus 로고
    • The real problem in association studies
    • Hardy, J. The real problem in association studies. Am. J. Med. Genet. 114, 253 (2002).
    • (2002) Am. J. Med. Genet. , vol.114 , pp. 253
    • Hardy, J.1
  • 2
    • 8844266996 scopus 로고    scopus 로고
    • Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
    • Paisan-Ruiz, C. et al. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44, 595-600 (2004).
    • (2004) Neuron , vol.44 , pp. 595-600
    • Paisan-Ruiz, C.1
  • 3
    • 60849121924 scopus 로고    scopus 로고
    • Characterization of PLA2G6 as a locus for dystonia-parkinsonism
    • Paisan-Ruiz, C. et al. Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann. Neurol. 65, 19-23 (2009).
    • (2009) Ann. Neurol. , vol.65 , pp. 19-23
    • Paisan-Ruiz, C.1
  • 4
    • 67649587137 scopus 로고    scopus 로고
    • Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy
    • Verkerk, A. J. et al. Mutation in the AP4M1 gene provides a model for neuroaxonal injury in cerebral palsy. Am. J. Hum. Genet. 85, 40-52 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 40-52
    • Verkerk, A.J.1
  • 5
    • 77953512439 scopus 로고    scopus 로고
    • Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
    • Paisan-Ruiz, C. et al. Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov. Disord. 25, 1791-1800 (2010).
    • (2010) Mov. Disord. , vol.25 , pp. 1791-1800
    • Paisan-Ruiz, C.1
  • 6
    • 83055168391 scopus 로고    scopus 로고
    • Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred
    • Gulsuner, S. et al. Homozygosity mapping and targeted genomic sequencing reveal the gene responsible for cerebellar hypoplasia and quadrupedal locomotion in a consanguineous kindred. Genome Res. 21, 1995-2003 (2011).
    • (2011) Genome Res. , vol.21 , pp. 1995-2003
    • Gulsuner, S.1
  • 7
    • 70249085939 scopus 로고    scopus 로고
    • Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease
    • Nalls, M. A. et al. Extended tracts of homozygosity identify novel candidate genes associated with late-onset Alzheimer's disease. Neurogenetics 10, 183-190 (2009).
    • (2009) Neurogenetics , vol.10 , pp. 183-190
    • Nalls, M.A.1
  • 8
    • 70349998614 scopus 로고    scopus 로고
    • Whole genome analysis in a consanguineous family with early onset Alzheimer's disease
    • Clarimon, J. et al. Whole genome analysis in a consanguineous family with early onset Alzheimer's disease. Neurobiol. Aging 30, 1986-1991 (2009).
    • (2009) Neurobiol. Aging , vol.30 , pp. 1986-1991
    • Clarimon, J.1
  • 9
    • 77956642100 scopus 로고    scopus 로고
    • Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome
    • Ng, S. B. et al. Exome sequencing identifies MLL2 mutations as a cause of Kabuki syndrome. Nature Genet. 42, 790-793 (2010).
    • (2010) Nature Genet. , vol.42 , pp. 790-793
    • Ng, S.B.1
  • 10
    • 77955574455 scopus 로고    scopus 로고
    • Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome
    • Pierce, S. B. et al. Mutations in the DBP-deficiency protein HSD17B4 cause ovarian dysgenesis, hearing loss, and ataxia of Perrault syndrome. Am. J. Hum. Genet. 87, 282-288 (2010).
    • (2010) Am. J. Hum. Genet. , vol.87 , pp. 282-288
    • Pierce, S.B.1
  • 11
    • 80053030497 scopus 로고    scopus 로고
    • Exome sequencing: A transformative technology
    • Singleton, A. B. Exome sequencing: a transformative technology. Lancet Neurol. 10, 942-946 (2011).
    • (2011) Lancet Neurol. , vol.10 , pp. 942-946
    • Singleton, A.B.1
  • 12
    • 77950475726 scopus 로고    scopus 로고
    • Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy
    • One of the first studies to use whole-genome sequencing to identify the cause of a neurological disease
    • Lupski, J. R. et al. Whole-genome sequencing in a patient with Charcot-Marie-Tooth neuropathy. N. Engl. J. Med. 362, 1181-1191 (2010). One of the first studies to use whole-genome sequencing to identify the cause of a neurological disease.
    • (2010) N. Engl. J. Med. , vol.362 , pp. 1181-1191
    • Lupski, J.R.1
  • 13
    • 84858070732 scopus 로고    scopus 로고
    • De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP
    • Veeramah, K. R. et al. De novo pathogenic SCN8A mutation identified by whole-genome sequencing of a family quartet affected by infantile epileptic encephalopathy and SUDEP. Am. J. Hum. Genet. 90, 502-510 (2012).
    • (2012) Am. J. Hum. Genet. , vol.90 , pp. 502-510
    • Veeramah, K.R.1
  • 14
    • 78649941297 scopus 로고    scopus 로고
    • Exome sequencing reveals VCP mutations as a cause of familial ALS
    • One of the first studies to show a now common finding in exome sequencing studies: genes known to cause one syndrome are often the cause of other unrelated diseases
    • Johnson, J. O. et al. Exome sequencing reveals VCP mutations as a cause of familial ALS. Neuron 68, 857-864 (2010). One of the first studies to show a now common finding in exome sequencing studies: genes known to cause one syndrome are often the cause of other unrelated diseases.
    • (2010) Neuron , vol.68 , pp. 857-864
    • Johnson, J.O.1
  • 15
    • 80051534540 scopus 로고    scopus 로고
    • A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease
    • Zimprich, A. et al. A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Am. J. Hum. Genet. 89, 168-175 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 168-175
    • Zimprich, A.1
  • 16
    • 80051488602 scopus 로고    scopus 로고
    • VPS35 mutations in Parkinson disease
    • Vilarino-Guell, C. et al. VPS35 mutations in Parkinson disease. Am. J. Hum. Genet. 89, 162-167 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 162-167
    • Vilarino-Guell, C.1
  • 18
    • 0035451780 scopus 로고    scopus 로고
    • On the allelic spectrum of human disease
    • Reich, D. E. & Lander, E. S. On the allelic spectrum of human disease. Trends Genet.17, 502-510 (2001).
    • (2001) Trends Genet. , vol.17 , pp. 502-510
    • Reich, D.E.1    Lander, E.S.2
  • 19
    • 13144265739 scopus 로고    scopus 로고
    • Genome-wide association studies: Theoretical and practical concerns
    • Wang, W. Y., Barratt, B. J., Clayton, D. G. & Todd, J. A. Genome-wide association studies: theoretical and practical concerns. Nature Rev. Genet. 6, 109-118 (2005).
    • (2005) Nature Rev. Genet. , vol.6 , pp. 109-118
    • Wang, W.Y.1    Barratt, B.J.2    Clayton, D.G.3    Todd, J.A.4
  • 20
    • 65949104586 scopus 로고    scopus 로고
    • Genome-wide association studies and human disease
    • Hardy, J. & Singleton, A. Genome-wide association studies and human disease. N. Engl. J. Med. 360, 1759-1768 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1759-1768
    • Hardy, J.1    Singleton, A.2
  • 21
    • 70549088602 scopus 로고    scopus 로고
    • Genome-wide association study reveals genetic risk underlying Parkinson's disease
    • The first large-scale GWAS in Parkinson's disease. It identified genes, previously known to cause Mendelian disease, that also conferred a risk for developing Parkinson's disease
    • Simon-Sanchez, J. et al. Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nature Genet. 41, 1308-1312 (2009). The first large-scale GWAS in Parkinson's disease. It identified genes, previously known to cause Mendelian disease, that also conferred a risk for developing Parkinson's disease.
    • (2009) Nature Genet. , vol.41 , pp. 1308-1312
    • Simon-Sanchez, J.1
  • 22
    • 79951811351 scopus 로고    scopus 로고
    • Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies
    • Nalls, M. A. et al. Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 377, 641-649 (2011).
    • (2011) Lancet , vol.377 , pp. 641-649
    • Nalls, M.A.1
  • 23
    • 79959851714 scopus 로고    scopus 로고
    • A two-stage meta-analysis identifies several new loci for Parkinson's disease
    • Plagnol, V. et al. A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet. 7, e1002142 (2011).
    • (2011) PLoS Genet. , vol.7
    • Plagnol, V.1
  • 24
    • 34047272692 scopus 로고    scopus 로고
    • A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease
    • Coon, K. D. et al. A high-density whole-genome association study reveals that APOE is the major susceptibility gene for sporadic late-onset Alzheimer's disease. J. Clin. Psychiatry 68, 613-618 (2007).
    • (2007) J. Clin. Psychiatry , vol.68 , pp. 613-618
    • Coon, K.D.1
  • 25
    • 79952256613 scopus 로고    scopus 로고
    • Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE
    • Wijsman, E. M. et al. Genome-wide association of familial late-onset Alzheimer's disease replicates BIN1 and CLU and nominates CUGBP2 in interaction with APOE. PLoS Genet. 7, e1001308 (2011).
    • (2011) PLoS Genet. , vol.7
    • Wijsman, E.M.1
  • 26
    • 70349558522 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease
    • Harold, D. et al. Genome-wide association study identifies variants at CLU and PICALM associated with Alzheimer's disease. Nature Genet. 41, 1088-1093 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 1088-1093
    • Harold, D.1
  • 27
    • 80051684615 scopus 로고    scopus 로고
    • Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis
    • Sawcer, S. et al. Genetic risk and a primary role for cell-mediated immune mechanisms in multiple sclerosis. Nature 476, 214-219 (2011).
    • (2011) Nature , vol.476 , pp. 214-219
    • Sawcer, S.1
  • 28
    • 68249108329 scopus 로고    scopus 로고
    • Prediction and interaction in complex disease genetics: Experience in type 1 diabetes
    • Clayton, D. G. Prediction and interaction in complex disease genetics: experience in type 1 diabetes. PLoS Genet. 5, e1000540 (2009).
    • (2009) PLoS Genet. , vol.5
    • Clayton, D.G.1
  • 29
    • 77953808087 scopus 로고    scopus 로고
    • Genotype imputation for genome-wide association studies
    • A thorough review of imputation and its application to GWASs
    • Marchini, J. & Howie, B. Genotype imputation for genome-wide association studies. Nature Rev. Genet. 11, 499-511 (2010). A thorough review of imputation and its application to GWASs.
    • (2010) Nature Rev. Genet. , vol.11 , pp. 499-511
    • Marchini, J.1    Howie, B.2
  • 30
    • 84863724842 scopus 로고    scopus 로고
    • 1000 Genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 data
    • 1 Feb (doi:10.1038/ejhg.2012.3)
    • Huang, J., Ellinghaus, D., Franke, A., Howie, B. & Li, Y. 1000 genomes-based imputation identifies novel and refined associations for the Wellcome Trust Case Control Consortium phase 1 data. Eur. J. Hum. Genet. 1 Feb 2012 (doi:10.1038/ejhg.2012.3).
    • (2012) Eur. J. Hum. Genet.
    • Huang, J.1    Ellinghaus, D.2    Franke, A.3    Howie, B.4    Li, Y.5
  • 31
    • 80052830541 scopus 로고    scopus 로고
    • Comparison of solution-based exome capture methods for next generation sequencing
    • Sulonen, A. M. et al. Comparison of solution-based exome capture methods for next generation sequencing. Genome Biol. 12, R94 (2011).
    • (2011) Genome Biol. , vol.12
    • Sulonen, A.M.1
  • 32
    • 70350319531 scopus 로고    scopus 로고
    • Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
    • A study that unequivocally showed that mutations in GBA, when heterozygous, confer a risk for developing Parkinson's disease
    • Sidransky, E. et al. Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N. Engl. J. Med. 361, 1651-1661 (2009). A study that unequivocally showed that mutations in GBA, when heterozygous, confer a risk for developing Parkinson's disease.
    • (2009) N. Engl. J. Med. , vol.361 , pp. 1651-1661
    • Sidransky, E.1
  • 33
    • 78549264026 scopus 로고    scopus 로고
    • Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease
    • Lambert, J. C. et al. Genome-wide association study identifies variants at CLU and CR1 associated with Alzheimer's disease. Nature Genet. 41, 1094-1099 (2009).
    • (2009) Nature Genet. , vol.41 , pp. 1094-1099
    • Lambert, J.C.1
  • 34
    • 80054837386 scopus 로고    scopus 로고
    • A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD
    • Renton, A. E. et al. A hexanucleotide repeat expansion in C9ORF72 is the cause of chromosome 9p21-linked ALS-FTD. Neuron 72, 257-268 (2011).
    • (2011) Neuron , vol.72 , pp. 257-268
    • Renton, A.E.1
  • 35
    • 80054832080 scopus 로고    scopus 로고
    • Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS
    • Dejesus-Hernandez, M. et al. Expanded GGGGCC hexanucleotide repeat in noncoding region of C9ORF72 causes chromosome 9p-linked FTD and ALS. Neuron 72, 245-256 (2011).
    • (2011) Neuron , vol.72 , pp. 245-256
    • Dejesus-Hernandez, M.1
  • 36
    • 84857691632 scopus 로고    scopus 로고
    • Usher syndrome type 2 caused by activation of an USH2A pseudoexon: Implications for diagnosis and therapy
    • Vache, C. et al. Usher syndrome type 2 caused by activation of an USH2A pseudoexon: implications for diagnosis and therapy. Hum. Mutat. 33, 104-108 (2012).
    • (2012) Hum. Mutat. , vol.33 , pp. 104-108
    • Vache, C.1
  • 37
    • 0345490853 scopus 로고    scopus 로고
    • A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe
    • French Parkinson's disease genetics study group and the European Consortium on genetic susceptibility in Parkinson's disease
    • Abbas, N. et al. A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe. French Parkinson's disease genetics study group and the European Consortium on genetic susceptibility in Parkinson's disease. Hum. Mol. Genet. 8, 567-574 (1999).
    • (1999) Hum. Mol. Genet. , vol.8 , pp. 567-574
    • Abbas, N.1
  • 38
    • 4644290985 scopus 로고    scopus 로고
    • α-synuclein locus duplication as a cause of familial Parkinson's disease
    • Chartier-Harlin, M. C. et al. α-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 364, 1167-1169 (2004).
    • (2004) Lancet , vol.364 , pp. 1167-1169
    • Chartier-Harlin, M.C.1
  • 39
    • 0242300619 scopus 로고    scopus 로고
    • α-synuclein locus triplication causes Parkinson's disease
    • Singleton, A. B. et al. α-synuclein locus triplication causes Parkinson's disease. Science 302, 841 (2003).
    • (2003) Science , vol.302 , pp. 841
    • Singleton, A.B.1
  • 40
    • 29444442794 scopus 로고    scopus 로고
    • APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy
    • Rovelet-Lecrux, A. et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nature Genet. 38, 24-26 (2006).
    • (2006) Nature Genet. , vol.38 , pp. 24-26
    • Rovelet-Lecrux, A.1
  • 41
    • 78049336905 scopus 로고    scopus 로고
    • Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations
    • Bilguvar, K. et al. Whole-exome sequencing identifies recessive WDR62 mutations in severe brain malformations. Nature 467, 207-210 (2010).
    • (2010) Nature , vol.467 , pp. 207-210
    • Bilguvar, K.1
  • 42
    • 84856273853 scopus 로고    scopus 로고
    • Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids
    • Rademakers, R. et al. Mutations in the colony stimulating factor 1 receptor (CSF1R) gene cause hereditary diffuse leukoencephalopathy with spheroids. Nature Genet. 44, 200-205 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 200-205
    • Rademakers, R.1
  • 43
    • 45149108420 scopus 로고    scopus 로고
    • Mapping the genetic architecture of gene expression in human liver
    • A good example of how eQTLs can be assessed in a genome-wide manner to shed light on gene expression patterns in a tissue of interest
    • Schadt, E. E. et al. Mapping the genetic architecture of gene expression in human liver. PLoS Biol. 6, e107 (2008). A good example of how eQTLs can be assessed in a genome-wide manner to shed light on gene expression patterns in a tissue of interest.
    • (2008) PLoS Biol. , vol.6
    • Schadt, E.E.1
  • 44
    • 36549053104 scopus 로고    scopus 로고
    • A survey of genetic human cortical gene expression
    • Myers, A. J. et al. A survey of genetic human cortical gene expression. Nature Genet. 39, 1494-1499 (2007).
    • (2007) Nature Genet. , vol.39 , pp. 1494-1499
    • Myers, A.J.1
  • 45
    • 67649584052 scopus 로고    scopus 로고
    • Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder
    • Holmans, P. et al. Gene ontology analysis of GWA study data sets provides insights into the biology of bipolar disorder. Am. J. Hum. Genet. 85, 13-24 (2009).
    • (2009) Am. J. Hum. Genet. , vol.85 , pp. 13-24
    • Holmans, P.1
  • 46
    • 0038054341 scopus 로고    scopus 로고
    • PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes
    • Mootha, V. K. et al. PGC-1α-responsive genes involved in oxidative phosphorylation are coordinately downregulated in human diabetes. Nature Genet. 34, 267-273 (2003).
    • (2003) Nature Genet. , vol.34 , pp. 267-273
    • Mootha, V.K.1
  • 47
    • 78649573450 scopus 로고    scopus 로고
    • Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease
    • Jones, L. et al. Genetic evidence implicates the immune system and cholesterol metabolism in the aetiology of Alzheimer's disease. PLoS ONE 5, e13950 (2010).
    • (2010) PLoS ONE , vol.5
    • Jones, L.1
  • 48
    • 85028106080 scopus 로고    scopus 로고
    • The National Institutes of Health Undiagnosed Diseases Program: Insights into rare diseases
    • Gahl, W. A. et al. The National Institutes of Health Undiagnosed Diseases Program: insights into rare diseases. Genet.Med. 14, 51-59 (2012).
    • (2012) Genet.Med. , vol.14 , pp. 51-59
    • Gahl, W.A.1
  • 49
    • 82455202257 scopus 로고    scopus 로고
    • DNA methylation profiling reveals a predominant immune component in breast cancers
    • Dedeurwaerder, S. et al. DNA methylation profiling reveals a predominant immune component in breast cancers. EMBO Mol. Med. 3, 726-741 (2011).
    • (2011) EMBO Mol. Med. , vol.3 , pp. 726-741
    • Dedeurwaerder, S.1
  • 50
    • 79952036163 scopus 로고    scopus 로고
    • Distinct DNA methylation changes highly correlated with chronological age in the human brain
    • These data reveal methylation patterns in the brain that are correlated with age, thus suggesting that this epigenetic mechanism may be involved in healthy ageing and in disease
    • Hernandez, D. G. et al. Distinct DNA methylation changes highly correlated with chronological age in the human brain. Hum. Mol. Genet. 20, 1164-1172 (2011). These data reveal methylation patterns in the brain that are correlated with age, thus suggesting that this epigenetic mechanism may be involved in healthy ageing and in disease.
    • (2011) Hum. Mol. Genet. , vol.20 , pp. 1164-1172
    • Hernandez, D.G.1
  • 51
    • 84860843024 scopus 로고    scopus 로고
    • Epigenetics DNA methylation in the core ataxin-2 gene promoter: Novel physiological and pathological implications
    • Laffita-Mesa, J. M. et al. Epigenetics DNA methylation in the core ataxin-2 gene promoter: novel physiological and pathological implications. Hum. Genet. 131, 625-638 (2012).
    • (2012) Hum. Genet. , vol.131 , pp. 625-638
    • Laffita-Mesa, J.M.1
  • 52
    • 79958292800 scopus 로고    scopus 로고
    • Profiling epigenetic alterations in disease
    • Martin-Subero, J. I. & Esteller, M. Profiling epigenetic alterations in disease. Adv. Exp. Med. Biol. 711, 162-177 (2011).
    • (2011) Adv. Exp. Med. Biol. , vol.711 , pp. 162-177
    • Martin-Subero, J.I.1    Esteller, M.2
  • 56
    • 77956226230 scopus 로고    scopus 로고
    • Gene-environment interactions in Parkinson's disease and other forms of parkinsonism
    • Vance, J. M., Ali, S., Bradley, W. G., Singer, C. & Di Monte, D. A. Gene-environment interactions in Parkinson's disease and other forms of parkinsonism. Neurotoxicology 31, 598-602 (2010).
    • (2010) Neurotoxicology , vol.31 , pp. 598-602
    • Vance, J.M.1    Ali, S.2    Bradley, W.G.3    Singer, C.4    Di Monte, D.A.5
  • 57
    • 0037372003 scopus 로고    scopus 로고
    • Epigenetic regulation of gene expression: How the genome integrates intrinsic and environmental signals
    • Jaenisch, R. & Bird, A. Epigenetic regulation of gene expression: how the genome integrates intrinsic and environmental signals. Nature Genet. 33, 245-254 (2003).
    • (2003) Nature Genet. , vol.33 , pp. 245-254
    • Jaenisch, R.1    Bird, A.2
  • 58
    • 33947310031 scopus 로고    scopus 로고
    • Environmental epigenomics and disease susceptibility
    • Jirtle, R. L. & Skinner, M. K. Environmental epigenomics and disease susceptibility. Nature Rev. Genet. 8, 253-262 (2007).
    • (2007) Nature Rev. Genet. , vol.8 , pp. 253-262
    • Jirtle, R.L.1    Skinner, M.K.2
  • 59
    • 85027950572 scopus 로고    scopus 로고
    • Parkinson's disease risk from ambient exposure to pesticides
    • Wang, A. et al. Parkinson's disease risk from ambient exposure to pesticides. Eur. J. Epidemiol. 26, 547-555 (2011).
    • (2011) Eur. J. Epidemiol. , vol.26 , pp. 547-555
    • Wang, A.1
  • 60
    • 0020680904 scopus 로고
    • Chronic parkinsonism in humans due to a product of meperidine-analog synthesis
    • Langston, J. W., Ballard, P., Tetrud, J. W. & Irwin, I. Chronic parkinsonism in humans due to a product of meperidine-analog synthesis. Science 219, 979-980 (1983).
    • (1983) Science , vol.219 , pp. 979-980
    • Langston, J.W.1    Ballard, P.2    Tetrud, J.W.3    Irwin, I.4
  • 61
    • 0030878320 scopus 로고    scopus 로고
    • Environmental risk factors and Parkinson's disease: A case-control study in Taiwan
    • Liou, H. H. et al. Environmental risk factors and Parkinson's disease: a case-control study in Taiwan. Neurology 48, 1583-1588 (1997).
    • (1997) Neurology , vol.48 , pp. 1583-1588
    • Liou, H.H.1
  • 62
    • 79959841853 scopus 로고    scopus 로고
    • Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
    • Do, C. B. et al. Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet. 7, e1002141 (2011).
    • (2011) PLoS Genet. , vol.7
    • Do, C.B.1
  • 63
    • 79955484414 scopus 로고    scopus 로고
    • Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease
    • Hollingworth, P. et al. Common variants at ABCA7, MS4A6A/MS4A4E, EPHA1, CD33 and CD2AP are associated with Alzheimer's disease. Nature Genet. 43, 429-435 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 429-435
    • Hollingworth, P.1
  • 64
    • 79955464911 scopus 로고    scopus 로고
    • Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease
    • Naj, A. C. et al. Common variants at MS4A4/MS4A6E, CD2AP, CD33 and EPHA1 are associated with late-onset Alzheimer's disease. Nature Genet. 43, 436-441 (2011).
    • (2011) Nature Genet. , vol.43 , pp. 436-441
    • Naj, A.C.1
  • 65
    • 65949090748 scopus 로고    scopus 로고
    • Genomewide association studies of stroke
    • Ikram, M. A. et al. Genomewide association studies of stroke. N. Engl. J. Med. 360, 1718-1728 (2009).
    • (2009) N. Engl. J. Med. , vol.360 , pp. 1718-1728
    • Ikram, M.A.1
  • 66
    • 84863393715 scopus 로고    scopus 로고
    • Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke
    • Bellenguez, C. et al. Genome-wide association study identifies a variant in HDAC9 associated with large vessel ischemic stroke. Nature Genet. 44, 328-333 (2012).
    • (2012) Nature Genet. , vol.44 , pp. 328-333
    • Bellenguez, C.1
  • 67
    • 34347337686 scopus 로고    scopus 로고
    • Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans
    • van de Leemput, J. et al. Deletion at ITPR1 underlies ataxia in mice and spinocerebellar ataxia 15 in humans. PLoS Genet. 3, e108 (2007).
    • (2007) PLoS Genet. , vol.3
    • Van De Leemput, J.1
  • 68
    • 80051606112 scopus 로고    scopus 로고
    • Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation
    • Doi, H. et al. Exome sequencing reveals a homozygous SYT14 mutation in adult-onset, autosomal-recessive spinocerebellar ataxia with psychomotor retardation. Am. J. Hum. Genet. 89, 320-327 (2011).
    • (2011) Am. J. Hum. Genet. , vol.89 , pp. 320-327
    • Doi, H.1
  • 69
    • 39149087968 scopus 로고    scopus 로고
    • DYT16, a novel young-onset dystonia-parkinsonism disorder: Identification of a segregating mutation in the stress-response protein PRKRA
    • Camargos, S. et al. DYT16, a novel young-onset dystonia-parkinsonism disorder: identification of a segregating mutation in the stress-response protein PRKRA. Lancet Neurol. 7, 207-215 (2008).
    • (2008) Lancet Neurol. , vol.7 , pp. 207-215
    • Camargos, S.1


* 이 정보는 Elsevier사의 SCOPUS DB에서 KISTI가 분석하여 추출한 것입니다.