-
1
-
-
78349283014
-
Familial aggregation of Parkinson's disease in a multiethnic community-based case-control study
-
Shino MY, McGuire V, Van Den Eeden SK, et al. Familial aggregation of Parkinson's disease in a multiethnic community-based case-control study. Mov Disord 2010, 25:2587-2594.
-
(2010)
Mov Disord
, vol.25
, pp. 2587-2594
-
-
Shino, M.Y.1
McGuire, V.2
Van Den Eeden, S.K.3
-
2
-
-
84873453232
-
The genetics of Parkinson's disease: progress and therapeutic implications
-
Singleton AB, Farrer MJ, Bonifati V The genetics of Parkinson's disease: progress and therapeutic implications. Mov Disord 2013, 28:14-23.
-
(2013)
Mov Disord
, vol.28
, pp. 14-23
-
-
Singleton, A.B.1
Farrer, M.J.2
Bonifati, V.3
-
3
-
-
41649096247
-
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 2008, 82:822-833.
-
(2008)
Am J Hum Genet
, vol.82
, pp. 822-833
-
-
Lautier, C.1
Goldwurm, S.2
Dürr, A.3
-
5
-
-
84906306620
-
Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives
-
Schapira AH, Olanow CW, Greenamyre JT, Bezard E Slowing of neurodegeneration in Parkinson's disease and Huntington's disease: future therapeutic perspectives. Lancet 2014, 384:545-555.
-
(2014)
Lancet
, vol.384
, pp. 545-555
-
-
Schapira, A.H.1
Olanow, C.W.2
Greenamyre, J.T.3
Bezard, E.4
-
6
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992, 55:181-184.
-
(1992)
J Neurol Neurosurg Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
7
-
-
65649114409
-
SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data
-
Fukuda Y, Nakahara Y, Date H, et al. SNP HiTLink: a high-throughput linkage analysis system employing dense SNP data. BMC Bioinformatics 2009, 10:121.
-
(2009)
BMC Bioinformatics
, vol.10
, pp. 121
-
-
Fukuda, Y.1
Nakahara, Y.2
Date, H.3
-
8
-
-
0036338150
-
Merlin-rapid analysis of dense genetic maps using sparse gene flow trees
-
Abecasis GR, Cherny SS, Cookson WO, Cardon LR Merlin-rapid analysis of dense genetic maps using sparse gene flow trees. Nat Genet 2002, 30:97-101.
-
(2002)
Nat Genet
, vol.30
, pp. 97-101
-
-
Abecasis, G.R.1
Cherny, S.S.2
Cookson, W.O.3
Cardon, L.R.4
-
9
-
-
67649884743
-
Fast and accurate short read alignment with Burrows-Wheeler transform
-
Li H, Durbin R Fast and accurate short read alignment with Burrows-Wheeler transform. Bioinformatics 2009, 25:1754-1760.
-
(2009)
Bioinformatics
, vol.25
, pp. 1754-1760
-
-
Li, H.1
Durbin, R.2
-
10
-
-
68549104404
-
The Sequence Alignment/Map format and SAMtools
-
Li H, Handsaker B, Wysoker A, et al. The Sequence Alignment/Map format and SAMtools. Bioinformatics 2009, 25:2078-2079.
-
(2009)
Bioinformatics
, vol.25
, pp. 2078-2079
-
-
Li, H.1
Handsaker, B.2
Wysoker, A.3
-
11
-
-
84875757691
-
De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood
-
Saitsu H, Nishimura T, Muramatsu K, et al. De novo mutations in the autophagy gene WDR45 cause static encephalopathy of childhood with neurodegeneration in adulthood. Nat Genet 2013, 45:445-449.
-
(2013)
Nat Genet
, vol.45
, pp. 445-449
-
-
Saitsu, H.1
Nishimura, T.2
Muramatsu, K.3
-
12
-
-
57149106806
-
HnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome
-
Masuda A, Shen XM, Ito M, Matsuura T, Engel AG, Ohno K hnRNP H enhances skipping of a nonfunctional exon P3A in CHRNA1 and a mutation disrupting its binding causes congenital myasthenic syndrome. Hum Mol Genet 2008, 17:4022-4035.
-
(2008)
Hum Mol Genet
, vol.17
, pp. 4022-4035
-
-
Masuda, A.1
Shen, X.M.2
Ito, M.3
Matsuura, T.4
Engel, A.G.5
Ohno, K.6
-
13
-
-
77950658335
-
HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease
-
Ohe K, Mayeda A HMGA1a trapping of U1 snRNP at an authentic 5' splice site induces aberrant exon skipping in sporadic Alzheimer's disease. Mol Cell Biol 2010, 30:2220-2228.
-
(2010)
Mol Cell Biol
, vol.30
, pp. 2220-2228
-
-
Ohe, K.1
Mayeda, A.2
-
14
-
-
84898786106
-
Statistical power and significance testing in large-scale genetic studies
-
Sham PC, Purcell SM Statistical power and significance testing in large-scale genetic studies. Nat Rev Genet 2014, 15:335-346.
-
(2014)
Nat Rev Genet
, vol.15
, pp. 335-346
-
-
Sham, P.C.1
Purcell, S.M.2
-
15
-
-
84903538948
-
Large-scale east-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants
-
Narahara M, Higasa K, Nakamura S, et al. Large-scale east-Asian eQTL mapping reveals novel candidate genes for LD mapping and the genomic landscape of transcriptional effects of sequence variants. PLoS One 2014, 9:e100924.
-
(2014)
PLoS One
, vol.9
, pp. e100924
-
-
Narahara, M.1
Higasa, K.2
Nakamura, S.3
-
16
-
-
77951640946
-
A method and server for predicting damaging missense mutations
-
Adzhubei IA, Schmidt S, Peshkin L, et al. A method and server for predicting damaging missense mutations. Nat Methods 2010, 7:248-249.
-
(2010)
Nat Methods
, vol.7
, pp. 248-249
-
-
Adzhubei, I.A.1
Schmidt, S.2
Peshkin, L.3
-
17
-
-
77955151784
-
MutationTaster evaluates disease-causing potential of sequence alterations
-
Schwarz JM, Rödelsperger C, Schuelke M, Seelow D MutationTaster evaluates disease-causing potential of sequence alterations. Nat Methods 2010, 7:575-576.
-
(2010)
Nat Methods
, vol.7
, pp. 575-576
-
-
Schwarz, J.M.1
Rödelsperger, C.2
Schuelke, M.3
Seelow, D.4
-
18
-
-
68149165614
-
Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm
-
Kumar P, Henikoff S, Ng PC Predicting the effects of coding non-synonymous variants on protein function using the SIFT algorithm. Nat Protoc 2009, 4:1073-1081.
-
(2009)
Nat Protoc
, vol.4
, pp. 1073-1081
-
-
Kumar, P.1
Henikoff, S.2
Ng, P.C.3
-
19
-
-
66249120367
-
Human Splicing Finder: an online bioinformatics tool to predict splicing signals
-
Desmet FO, Hamroun D, Lalande M, Collod-Beroud G, Claustres M, Beroud C Human Splicing Finder: an online bioinformatics tool to predict splicing signals. Nucleic Acid Res 2009, 37:e67.
-
(2009)
Nucleic Acid Res
, vol.37
, pp. e67
-
-
Desmet, F.O.1
Hamroun, D.2
Lalande, M.3
Collod-Beroud, G.4
Claustres, M.5
Beroud, C.6
-
20
-
-
35548952226
-
In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites
-
Sahashi K, Masuda A, Matsuura T, et al. In vitro and in silico analysis reveals an efficient algorithm to predict the splicing consequences of mutations at the 5' splice sites. Nucleic Acids Res 2007, 35:5995-6003.
-
(2007)
Nucleic Acids Res
, vol.35
, pp. 5995-6003
-
-
Sahashi, K.1
Masuda, A.2
Matsuura, T.3
-
21
-
-
70549084415
-
Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease
-
Satake W, Nakabayashi Y, Mizuta I, et al. Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 2009, 41:1303-1307.
-
(2009)
Nat Genet
, vol.41
, pp. 1303-1307
-
-
Satake, W.1
Nakabayashi, Y.2
Mizuta, I.3
-
22
-
-
84911916147
-
MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism
-
Aras S, Bai M, Lee I, Springett R, Hüttemann M, Grossman LI MNRR1 (formerly CHCHD2) is a bi-organellar regulator of mitochondrial metabolism. Mitochondrion 2015, 20:43-51.
-
(2015)
Mitochondrion
, vol.20
, pp. 43-51
-
-
Aras, S.1
Bai, M.2
Lee, I.3
Springett, R.4
Hüttemann, M.5
Grossman, L.I.6
-
23
-
-
67849130819
-
A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis
-
Baughman JM, Nilsson R, Gohil VM, Arlow DH, Gauhar Z, Mootha VK A computational screen for regulators of oxidative phosphorylation implicates SLIRP in mitochondrial RNA homeostasis. PLoS Genet 2009, 5:e1000590.
-
(2009)
PLoS Genet
, vol.5
, pp. e1000590
-
-
Baughman, J.M.1
Nilsson, R.2
Gohil, V.M.3
Arlow, D.H.4
Gauhar, Z.5
Mootha, V.K.6
-
24
-
-
70349423394
-
Systematic analysis of the twin cx(9)c protein family
-
Longen S, Bien M, Bihlmaier K, et al. Systematic analysis of the twin cx(9)c protein family. J Mol Biol 2009, 393:356-368.
-
(2009)
J Mol Biol
, vol.393
, pp. 356-368
-
-
Longen, S.1
Bien, M.2
Bihlmaier, K.3
-
25
-
-
84940000123
-
CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation
-
published online Dec 5.
-
Liu Y, Clegg HV, Leslie PL, et al. CHCHD2 inhibits apoptosis by interacting with Bcl-x L to regulate Bax activation. Cell Death Differ 2014, published online Dec 5. 10.1038/cdd.2014.194.
-
(2014)
Cell Death Differ
-
-
Liu, Y.1
Clegg, H.V.2
Leslie, P.L.3
-
26
-
-
79953287466
-
Revisiting the relationship between essential tremor and Parkinson's disease
-
Fekete R, Jankovic J Revisiting the relationship between essential tremor and Parkinson's disease. Mov Disord 2011, 26:391-398.
-
(2011)
Mov Disord
, vol.26
, pp. 391-398
-
-
Fekete, R.1
Jankovic, J.2
-
27
-
-
79955853163
-
A family with parkinsonism, essential tremor, restless legs syndrome, and depression
-
Puschmann A, Pfeiffer RF, Stoessl AJ, et al. A family with parkinsonism, essential tremor, restless legs syndrome, and depression. Neurology 2011, 76:1623-1630.
-
(2011)
Neurology
, vol.76
, pp. 1623-1630
-
-
Puschmann, A.1
Pfeiffer, R.F.2
Stoessl, A.J.3
-
28
-
-
84864601973
-
Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells
-
Feyeux M, Bourgois-Rocha F, Redfern A, et al. Early transcriptional changes linked to naturally occurring Huntington's disease mutations in neural derivatives of human embryonic stem cells. Hum Mol Genet 2012, 21:3883-3895.
-
(2012)
Hum Mol Genet
, vol.21
, pp. 3883-3895
-
-
Feyeux, M.1
Bourgois-Rocha, F.2
Redfern, A.3
-
29
-
-
84876366987
-
Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2
-
Aras S, Pak O, Sommer N, et al. Oxygen-dependent expression of cytochrome c oxidase subunit 4-2 gene expression is mediated by transcription factors RBPJ, CXXC5 and CHCHD2. Nucleic Acids Res 2013, 41:2255-2266.
-
(2013)
Nucleic Acids Res
, vol.41
, pp. 2255-2266
-
-
Aras, S.1
Pak, O.2
Sommer, N.3
-
30
-
-
84864267876
-
PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65
-
Kondapalli C, Kazlauskaite A, Zhang N, et al. PINK1 is activated by mitochondrial membrane potential depolarization and stimulates Parkin E3 ligase activity by phosphorylating Serine 65. Open Biol 2012, 2:120080.
-
(2012)
Open Biol
, vol.2
, pp. 120080
-
-
Kondapalli, C.1
Kazlauskaite, A.2
Zhang, N.3
-
31
-
-
84901751574
-
Ubiquitin is phosphorylated by PINK1 to activate parkin
-
Koyano F, Okatsu K, Kosako H, et al. Ubiquitin is phosphorylated by PINK1 to activate parkin. Nature 2014, 510:162-166.
-
(2014)
Nature
, vol.510
, pp. 162-166
-
-
Koyano, F.1
Okatsu, K.2
Kosako, H.3
-
32
-
-
84879001260
-
The ubiquitin-proteasome system regulates mitochondrial intermembrane space proteins
-
Bragoszewski P, Gornicka A, Sztolsztener ME, Chacinska A The ubiquitin-proteasome system regulates mitochondrial intermembrane space proteins. Mol Cell Biol 2013, 33:2136-2148.
-
(2013)
Mol Cell Biol
, vol.33
, pp. 2136-2148
-
-
Bragoszewski, P.1
Gornicka, A.2
Sztolsztener, M.E.3
Chacinska, A.4
|