-
1
-
-
33846531959
-
Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals
-
Simon-Sanchez J, Scholz S, Fung HC, et al. Genome-wide SNP assay reveals structural genomic variation, extended homozygosity and cell-line induced alterations in normal individuals. Hum Mol Genet 2007;16:1-14.
-
(2007)
Hum Mol Genet
, vol.16
, pp. 1-14
-
-
Simon-Sanchez, J.1
Scholz, S.2
Fung, H.C.3
-
2
-
-
33751329250
-
Global variation in copy number in the human genome
-
Redon R, Ishikawa S, Fitch KR, et al. Global variation in copy number in the human genome. Nature 2006;444:444-454.
-
(2006)
Nature
, vol.444
, pp. 444-454
-
-
Redon, R.1
Ishikawa, S.2
Fitch, K.R.3
-
3
-
-
33846006596
-
A comprehensive analysis of common copy-number variations in the human genome
-
Wong KK, Deleeuw RJ, Dosanjh NS, et al. A comprehensive analysis of common copy-number variations in the human genome. Am J Hum Genet 2007;80:91-104.
-
(2007)
Am J Hum Genet
, vol.80
, pp. 91-104
-
-
Wong, K.K.1
Deleeuw, R.J.2
Dosanjh, N.S.3
-
4
-
-
0242300619
-
alpha-Synuclein locus triplication causes Parkinson's disease
-
Singleton AB, Farrer M, Johnson J, et al. alpha-Synuclein locus triplication causes Parkinson's disease. Science 2003;302:841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
-
5
-
-
4644290985
-
Alpha-synuclein locus duplication as a cause of familial Parkinson's disease
-
Chartier-Harlin MC, Kachergus J, Roumier C, et al. Alpha-synuclein locus duplication as a cause of familial Parkinson's disease. Lancet 2004;364:1167-1169.
-
(2004)
Lancet
, vol.364
, pp. 1167-1169
-
-
Chartier-Harlin, M.C.1
Kachergus, J.2
Roumier, C.3
-
6
-
-
10744227740
-
Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications
-
Farrer M, Kachergus J, Forno L, et al. Comparison of kindreds with parkinsonism and alpha-synuclein genomic multiplications. Ann Neurol 2004;55:174-179.
-
(2004)
Ann Neurol
, vol.55
, pp. 174-179
-
-
Farrer, M.1
Kachergus, J.2
Forno, L.3
-
7
-
-
4644236043
-
Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease
-
Ibanez P, Bonnet AM, Debarges B, et al. Causal relation between alpha-synuclein gene duplication and familial Parkinson's disease. Lancet 2004;364:1169-1171.
-
(2004)
Lancet
, vol.364
, pp. 1169-1171
-
-
Ibanez, P.1
Bonnet, A.M.2
Debarges, B.3
-
8
-
-
4043055593
-
Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease
-
Lockhart PJ, Kachergus J, Lincoln S, et al. Multiplication of the alpha-synuclein gene is not a common disease mechanism in Lewy body disease. J Mol Neurosci 2004;24:337-342.
-
(2004)
J Mol Neurosci
, vol.24
, pp. 337-342
-
-
Lockhart, P.J.1
Kachergus, J.2
Lincoln, S.3
-
9
-
-
32044453611
-
Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease
-
Nishioka K, Hayashi S, Farrer MJ, et al. Clinical heterogeneity of alpha-synuclein gene duplication in Parkinson's disease. Ann Neurol 2006;59:298-309.
-
(2006)
Ann Neurol
, vol.59
, pp. 298-309
-
-
Nishioka, K.1
Hayashi, S.2
Farrer, M.J.3
-
10
-
-
3543095096
-
SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies
-
Johnson J, Hague SM, Hanson M, et al. SNCA multiplication is not a common cause of Parkinson disease or dementia with Lewy bodies. Neurology 2004;63:554-556.
-
(2004)
Neurology
, vol.63
, pp. 554-556
-
-
Johnson, J.1
Hague, S.M.2
Hanson, M.3
-
11
-
-
34147109175
-
Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication
-
Fuchs J, Nilsson C, Kachergus J, et al. Phenotypic variation in a large Swedish pedigree due to SNCA duplication and triplication. Neurology 2007;68:916-922.
-
(2007)
Neurology
, vol.68
, pp. 916-922
-
-
Fuchs, J.1
Nilsson, C.2
Kachergus, J.3
-
13
-
-
33645692360
-
Unexpected rescue of alpha-synuclein and multimerin1 deletion in C57BL/6JOlaHsd mice by beta-adducin knockout
-
Gajovic S, Mitrecic D, Augustincic L, et al. Unexpected rescue of alpha-synuclein and multimerin1 deletion in C57BL/6JOlaHsd mice by beta-adducin knockout. Transgenic Res 2006;15:255-259.
-
(2006)
Transgenic Res
, vol.15
, pp. 255-259
-
-
Gajovic, S.1
Mitrecic, D.2
Augustincic, L.3
-
14
-
-
2642552972
-
Deletion of multimerin-1 in alpha-synuclein- deficient mice
-
Specht CG, Schoepfer R. Deletion of multimerin-1 in alpha-synuclein- deficient mice. Genomics 2004;83:1176-1178.
-
(2004)
Genomics
, vol.83
, pp. 1176-1178
-
-
Specht, C.G.1
Schoepfer, R.2
-
15
-
-
4043182729
-
Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease
-
Hope AD, Myhre R, Kachergus J, et al. Alpha-synuclein missense and multiplication mutations in autosomal dominant Parkinson's disease. Neurosci Lett 2004;367:97-100.
-
(2004)
Neurosci Lett
, vol.367
, pp. 97-100
-
-
Hope, A.D.1
Myhre, R.2
Kachergus, J.3
-
16
-
-
37849012348
-
-
Ahn TB, Kim SY, Kim JY, et al. {alpha}-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;70:43-49.
-
Ahn TB, Kim SY, Kim JY, et al. {alpha}-Synuclein gene duplication is present in sporadic Parkinson disease. Neurology 2008;70:43-49.
-
-
-
-
17
-
-
0035097503
-
Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation
-
Spira PJ, Sharpe DM, Halliday G, et al. Clinical and pathological features of a Parkinsonian syndrome in a family with an Ala53Thr alpha-synuclein mutation. Ann Neurol 2001;49:313-319.
-
(2001)
Ann Neurol
, vol.49
, pp. 313-319
-
-
Spira, P.J.1
Sharpe, D.M.2
Halliday, G.3
-
18
-
-
38149131788
-
Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia
-
Obi T, Nishioka K, Ross OA, et al. Clinicopathologic study of a SNCA gene duplication patient with Parkinson disease and dementia. Neurology 2008;70:238-241.
-
(2008)
Neurology
, vol.70
, pp. 238-241
-
-
Obi, T.1
Nishioka, K.2
Ross, O.A.3
-
19
-
-
2342647468
-
High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines
-
Janne PA, Li C, Zhao X, et al. High-resolution single-nucleotide polymorphism array and clustering analysis of loss of heterozygosity in human lung cancer cell lines. Oncogene 2004;23:2716-2726.
-
(2004)
Oncogene
, vol.23
, pp. 2716-2726
-
-
Janne, P.A.1
Li, C.2
Zhao, X.3
-
20
-
-
0041940140
-
Genome-wide loss of heterozygosity analysis from laser capture microdissected prostate cancer using single nucleotide polymorphic allele (SNP) arrays and a novel bioinformatics platform dChipSNP
-
Lieberfarb ME, Lin M, Lechpammer M, et al. Genome-wide loss of heterozygosity analysis from laser capture microdissected prostate cancer using single nucleotide polymorphic allele (SNP) arrays and a novel bioinformatics platform dChipSNP. Cancer Res 2003;63:4781-4785.
-
(2003)
Cancer Res
, vol.63
, pp. 4781-4785
-
-
Lieberfarb, M.E.1
Lin, M.2
Lechpammer, M.3
-
21
-
-
2542548405
-
dChipSNP: Significance curve and clustering of SNP-array-based loss-of-heterozygosity data
-
Lin M, Wei LJ, Sellers WR, et al. dChipSNP: significance curve and clustering of SNP-array-based loss-of-heterozygosity data. Bioinformatics 2004;20:1233-1240.
-
(2004)
Bioinformatics
, vol.20
, pp. 1233-1240
-
-
Lin, M.1
Wei, L.J.2
Sellers, W.R.3
-
23
-
-
0036250811
-
Alu repeats and human genomic diversity
-
Batzer MA, Deininger PL. Alu repeats and human genomic diversity. Nat Rev Genet 2002;3:370-379.
-
(2002)
Nat Rev Genet
, vol.3
, pp. 370-379
-
-
Batzer, M.A.1
Deininger, P.L.2
-
24
-
-
8744242187
-
Whole-genome analysis of Alu repeat elements reveals complex evolutionary history
-
Price AL, Eskin E, Pevzner PA. Whole-genome analysis of Alu repeat elements reveals complex evolutionary history. Genome Res 2004;14:2245-2252.
-
(2004)
Genome Res
, vol.14
, pp. 2245-2252
-
-
Price, A.L.1
Eskin, E.2
Pevzner, P.A.3
-
25
-
-
0142059650
-
An Alu transposition model for the origin and expansion of human segmental duplications
-
Bailey JA, Liu G, Eichler EE. An Alu transposition model for the origin and expansion of human segmental duplications. Am J Hum Genet 2003;73:823-834.
-
(2003)
Am J Hum Genet
, vol.73
, pp. 823-834
-
-
Bailey, J.A.1
Liu, G.2
Eichler, E.E.3
-
26
-
-
33645116252
-
Genetics of Parkinson disease: Paradigm shifts and future prospects
-
Farrer MJ. Genetics of Parkinson disease: paradigm shifts and future prospects. Nat Rev Genet 2006;7:306-318.
-
(2006)
Nat Rev Genet
, vol.7
, pp. 306-318
-
-
Farrer, M.J.1
-
27
-
-
0029952371
-
An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect
-
Hayward CP, Rivard GE, Kane WH, et al. An autosomal dominant, qualitative platelet disorder associated with multimerin deficiency, abnormalities in platelet factor V, thrombospondin, von Willebrand factor, and fibrinogen and an epinephrine aggregation defect. Blood 1996;87:4967-4978.
-
(1996)
Blood
, vol.87
, pp. 4967-4978
-
-
Hayward, C.P.1
Rivard, G.E.2
Kane, W.H.3
-
28
-
-
24744445401
-
Loss of epigenetic control of synuclein-gamma gene as a molecular indicator of metastasis in a wide range of human cancers
-
Liu H, Liu W, Wu Y, et al. Loss of epigenetic control of synuclein-gamma gene as a molecular indicator of metastasis in a wide range of human cancers. Cancer Res 2005;65:7635-7643.
-
(2005)
Cancer Res
, vol.65
, pp. 7635-7643
-
-
Liu, H.1
Liu, W.2
Wu, Y.3
-
29
-
-
33644757018
-
Alterations of tumor suppressor and tumor-related genes in the development and progression of gastric cancer
-
Tamura G. Alterations of tumor suppressor and tumor-related genes in the development and progression of gastric cancer. World J Gastroenterol 2006;12:192-198.
-
(2006)
World J Gastroenterol
, vol.12
, pp. 192-198
-
-
Tamura, G.1
-
30
-
-
33745034020
-
Parkinson's disease: The genetics of a heterogeneous disorder
-
Gosal D, Ross OA, Toft M. Parkinson's disease: the genetics of a heterogeneous disorder. Eur J Neurol 2006;13:616-627.
-
(2006)
Eur J Neurol
, vol.13
, pp. 616-627
-
-
Gosal, D.1
Ross, O.A.2
Toft, M.3
-
31
-
-
0001835824
-
Paralysis agitans: Clinical and genetic study
-
Mjönes H. Paralysis agitans: clinical and genetic study. Acta Psychiatr Neurol Scand Suppl 1949;54:1-195.
-
(1949)
Acta Psychiatr Neurol Scand Suppl
, vol.54
, pp. 1-195
-
-
Mjönes, H.1
-
32
-
-
17844389364
-
The wide spectrum of spinocerebellar ataxias (SCAs)
-
Manto MU. The wide spectrum of spinocerebellar ataxias (SCAs). Cerebellum 2005;4:2-6.
-
(2005)
Cerebellum
, vol.4
, pp. 2-6
-
-
Manto, M.U.1
-
33
-
-
29444442794
-
-
Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38:24-26.
-
Rovelet-Lecrux A, Hannequin D, Raux G, et al. APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy. Nat Genet 2006;38:24-26.
-
-
-
-
34
-
-
0035894661
-
Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system
-
Chiba-Falek O, Nussbaum RL. Effect of allelic variation at the NACP-Rep1 repeat upstream of the alpha-synuclein gene (SNCA) on transcription in a cell culture luciferase reporter system. Hum Mol Genet 2001;10:3101-3109.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 3101-3109
-
-
Chiba-Falek, O.1
Nussbaum, R.L.2
-
35
-
-
0342950666
-
Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/ apolipoprotein E genotype
-
Kruger R, Vieira-Saecker AM, Kuhn W, et al. Increased susceptibility to sporadic Parkinson's disease by a certain combined alpha-synuclein/ apolipoprotein E genotype. Ann Neurol 1999;45:611-617.
-
(1999)
Ann Neurol
, vol.45
, pp. 611-617
-
-
Kruger, R.1
Vieira-Saecker, A.M.2
Kuhn, W.3
-
36
-
-
0037426704
-
Alpha synuclein promoter and risk of Parkinson's disease: Microsatellite and allelic size variability
-
Tan EK, Tan C, Shen H, et al. Alpha synuclein promoter and risk of Parkinson's disease: microsatellite and allelic size variability. Neurosci Lett 2003;336:70-72.
-
(2003)
Neurosci Lett
, vol.336
, pp. 70-72
-
-
Tan, E.K.1
Tan, C.2
Shen, H.3
-
37
-
-
0035880458
-
alpha-Synuclein gene haplotypes are associated with Parkinson's disease
-
Farrer M, Maraganore DM, Lockhart P, et al. alpha-Synuclein gene haplotypes are associated with Parkinson's disease. Hum Mol Genet 2001;10:1847-1851.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1847-1851
-
-
Farrer, M.1
Maraganore, D.M.2
Lockhart, P.3
-
38
-
-
33746869343
-
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
-
Maraganore DM, de Andrade M, Elbaz A, et al. Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease. Jama 2006;296:661-670.
-
(2006)
Jama
, vol.296
, pp. 661-670
-
-
Maraganore, D.M.1
de Andrade, M.2
Elbaz, A.3
-
39
-
-
33749667345
-
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 2006;5:911-916.
-
(2006)
Lancet Neurol
, vol.5
, pp. 911-916
-
-
Fung, H.C.1
Scholz, S.2
Matarin, M.3
-
40
-
-
27244451809
-
High-resolution whole-genome association study of Parkinson disease
-
Maraganore DM, de Andrade M, Lesnick TG, et al. High-resolution whole-genome association study of Parkinson disease. Am J Hum Genet 2005;77:685-693.
-
(2005)
Am J Hum Genet
, vol.77
, pp. 685-693
-
-
Maraganore, D.M.1
de Andrade, M.2
Lesnick, T.G.3
-
41
-
-
38949093023
-
Genomewide SNP assay reveals mutations underlying Parkinson disease
-
Simon-Sanchez J, Scholz S, Del Mar Matarin M, et al. Genomewide SNP assay reveals mutations underlying Parkinson disease. Hum Mutat 2008;29:315-322.
-
(2008)
Hum Mutat
, vol.29
, pp. 315-322
-
-
Simon-Sanchez, J.1
Scholz, S.2
Del Mar Matarin, M.3
-
42
-
-
33847731132
-
The ups and downs of alpha-synuclein mRNA expression
-
Dachsel JC, Lincoln SJ, Gonzalez J, et al. The ups and downs of alpha-synuclein mRNA expression. Mov Disord 2007;22:293-295.
-
(2007)
Mov Disord
, vol.22
, pp. 293-295
-
-
Dachsel, J.C.1
Lincoln, S.J.2
Gonzalez, J.3
-
43
-
-
23044502947
-
Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms
-
Zhang Y, James M, Middleton FA, Davis RL. Transcriptional analysis of multiple brain regions in Parkinson's disease supports the involvement of specific protein processing, energy metabolism, and signaling pathways, and suggests novel disease mechanisms. Am J Med Genet B Neuropsychiatr Genet 2005;137:5-16.
-
(2005)
Am J Med Genet B Neuropsychiatr Genet
, vol.137
, pp. 5-16
-
-
Zhang, Y.1
James, M.2
Middleton, F.A.3
Davis, R.L.4
|