-
1
-
-
66949152096
-
Parkinson's disease
-
Lees AJ, Hardy J, Revesz T (2009) Parkinson's disease. Lancet 373(9680):2055-2066
-
(2009)
Lancet
, vol.373
, Issue.9680
, pp. 2055-2066
-
-
Lees, A.J.1
Hardy, J.2
Revesz, T.3
-
2
-
-
84871921766
-
100 Years of Lewy pathology
-
Goedert M, Spillantini MG, Del Tredici K, Braak H (2013) 100 years of Lewy pathology. Nat Rev Neurol 9(1):13-24
-
(2013)
Nat Rev Neurol
, vol.9
, Issue.1
, pp. 13-24
-
-
Goedert, M.1
Spillantini, M.G.2
Del Tredici, K.3
Braak, H.4
-
3
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
DOI 10.1126/science.276.5321.2045
-
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A et al (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276(5321):2045-2047 (New York, N.Y.) (Pubitemid 27443610)
-
(1997)
Science
, vol.276
, Issue.5321
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
Ide, S.E.4
Dehejia, A.5
Dutra, A.6
Pike, B.7
Root, H.8
Rubenstein, J.9
Boyer, R.10
Stenroos, E.S.11
Chandrasekharappa, S.12
Athanassiadou, A.13
Papapetropoulos, T.14
Johnson, W.G.15
Lazzarini, A.M.16
Duvoisin, R.C.17
Di, I.G.18
Golbe, L.I.19
Nussbaum, R.L.20
more..
-
4
-
-
0031990490
-
Ala30Pro mutation in the gene encoding alphasynuclein in Parkinson's disease
-
Krüger R, Kuhn W, Müller T, Woitalla D, Graeber M, Kösel S et al (1998) Ala30Pro mutation in the gene encoding alphasynuclein in Parkinson's disease. Nat Genet 18(2):106-108
-
(1998)
Nat Genet
, vol.18
, Issue.2
, pp. 106-108
-
-
Krüger, R.1
Kuhn, W.2
Müller, T.3
Woitalla, D.4
Graeber, M.5
Kösel, S.6
-
5
-
-
10744230149
-
The New Mutation, E46K, of alpha-Synuclein Causes Parkinson and Lewy Body Dementia
-
DOI 10.1002/ana.10795
-
Zarranz JJ, Alegre J, Gómez-Esteban JC, Lezcano E, Ros R, Ampuero I et al (2004) The new mutation, E46 K, of alpha-synuclein causes Parkinson and Lewy body dementia. Ann Neurol 55(2):164-173 (Pubitemid 38166992)
-
(2004)
Annals of Neurology
, vol.55
, Issue.2
, pp. 164-173
-
-
Zarranz, J.J.1
Alegre, J.2
Gomez-Esteban, J.C.3
Lezcano, E.4
Ros, R.5
Ampuero, I.6
Vidal, L.7
Hoenicka, J.8
Rodriguez, O.9
Atares, B.10
Llorens, V.11
Gomez, T.E.12
Del, S.T.13
Munoz, D.G.14
De Yebenes, J.G.15
-
6
-
-
0242300619
-
alpha-Synuclein Locus Triplication Causes Parkinson's Disease
-
DOI 10.1126/science.1090278
-
Singleton AB, Farrer M, Johnson J, Singleton A, Hague S, Kachergus J et al (2003) Alpha-Synuclein locus triplication causes Parkinson's disease. Science 302(5646):841 (New York, N.Y.) (Pubitemid 37339619)
-
(2003)
Science
, vol.302
, Issue.5646
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
7
-
-
0034681163
-
Acceleration of oligomerization, not fibrillization, is a shared property of both alpha -synuclein mutations linked to early-onset Parkinson's disease: Implications for pathogenesis and therapy
-
Conway KA (2000) Acceleration of oligomerization, not fibrillization, is a shared property of both alpha -synuclein mutations linked to early-onset Parkinson's disease: implications for pathogenesis and therapy. Proc Natl Acad Sci 97(2):571-576
-
(2000)
Proc Natl Acad Sci
, vol.97
, Issue.2
, pp. 571-576
-
-
Conway, K.A.1
-
8
-
-
84879605541
-
Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
-
doi:10.1002/mds.25421
-
Appel-Cresswell S, Vilarino-Guell C, Encarnacion M, Sherman H, Yu I, Shah B, Weir D, Thompson C, Szu-Tu C, Trinh J, Aasly JO, Rajput A, Rajput AH, Jon Stoessl A, Farrer MJ (2013) Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease. Mov Disord. doi:10.1002/mds.25421
-
(2013)
Mov Disord
-
-
Appel-Cresswell, S.1
Vilarino-Guell, C.2
Encarnacion, M.3
Sherman, H.4
Yu, I.5
Shah, B.6
Weir, D.7
Thompson, C.8
Szu-Tu, C.9
Trinh, J.10
Aasly, J.O.11
Rajput, A.12
Rajput, A.H.13
Jon Stoessl, A.14
Farrer, M.J.15
-
9
-
-
84876226920
-
A novel α-synuclein missense mutation in Parkinson disease
-
doi:10.1212/WNL.0b013e31828727ba
-
Proukakis C, Dudzik CG, Brier T, MacKay DS, Cooper JM, Millhauser GL, Houlden H, Schapira AH (2013) A novel α-synuclein missense mutation in Parkinson disease. Neurology 80(11):1062-1064. doi:10.1212/WNL.0b013e31828727ba
-
(2013)
Neurology
, vol.80
, Issue.11
, pp. 1062-1064
-
-
Proukakis, C.1
Dudzik, C.G.2
Brier, T.3
MacKay, D.S.4
Cooper, J.M.5
Millhauser, G.L.6
Houlden, H.7
Schapira, A.H.8
-
10
-
-
84885461450
-
α-Synucleinopathy associated with G51D SNCA mutation: A link between Parkinson's disease and multiple system atrophy?
-
doi:10.1007/s00401-013-1096-7
-
Kiely AP, Asi YT, Kara E, Limousin P, Ling H, Lewis P, Proukakis C, Quinn N, Lees AJ, Hardy J, Revesz T, Houlden H, Holton JL (2013) α- Synucleinopathy associated with G51D SNCA mutation: a link between Parkinson's disease and multiple system atrophy? Acta Neuropathol 125(5):753-769. doi:10.1007/s00401-013-1096-7
-
(2013)
Acta Neuropathol
, vol.125
, Issue.5
, pp. 753-769
-
-
Kiely, A.P.1
Asi, Y.T.2
Kara, E.3
Limousin, P.4
Ling, H.5
Lewis, P.6
Proukakis, C.7
Quinn, N.8
Lees, A.J.9
Hardy, J.10
Revesz, T.11
Houlden, H.12
Holton, J.L.13
-
11
-
-
84878405578
-
G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome
-
for the French Parkinson's Disease Genetics (PDG) Study Group doi:10.1002/ana.23894
-
Lesage S, Anheim M, Letournel F, Bousset L, Honoré A, Rozas N, Pieri L, Madiona K, Dürr A, Melki R, Verny C, Brice A; for the French Parkinson's Disease Genetics (PDG) Study Group (2013) G51D α-synuclein mutation causes a novel parkinsonian-pyramidal syndrome. Ann Neurol. doi:10.1002/ana.23894
-
(2013)
Ann Neurol
-
-
Lesage, S.1
Anheim, M.2
Letournel, F.3
Bousset, L.4
Honoré, A.5
Rozas, N.6
Pieri, L.7
Madiona, K.8
Dürr, A.9
Melki, R.10
Verny, C.11
Brice, A.12
-
12
-
-
0034069848
-
Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkonsonism and dementia linked to chromosome 4p
-
Gwinn-Hardy K, Mehta ND, Farrer M, Maraganore D, Muenter M, Yen SH et al (2000) Distinctive neuropathology revealed by alpha-synuclein antibodies in hereditary parkinsonism and dementia linked to chromosome 4p. Acta Neuropathol 99(6):663-672 (Pubitemid 30307376)
-
(2000)
Acta Neuropathologica
, vol.99
, Issue.6
, pp. 663-672
-
-
Gwinn-Hardy, K.1
Mehta, N.D.2
Farrer, M.3
Maraganore, D.4
Muenter, M.5
Yen, S.-H.6
Hardy, J.7
Dickson, D.W.8
-
13
-
-
50049104725
-
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
-
Healy DG, Falchi M, O'Sullivan SS, Bonifati V, Durr A, Bressman S et al (2008) Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study. Lancet Neurol 7(7):583-590
-
(2008)
Lancet Neurol
, vol.7
, Issue.7
, pp. 583-590
-
-
Healy, D.G.1
Falchi, M.2
O'Sullivan, S.S.3
Bonifati, V.4
Durr, A.5
Bressman, S.6
-
14
-
-
65449160605
-
The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel
-
Hassin-Baer S, Laitman Y, Azizi E, Molchadski I, Galore-Haskel G, Barak F et al (2009) The leucine rich repeat kinase 2 (LRRK2) G2019S substitution mutation. Association with Parkinson disease, malignant melanoma and prevalence in ethnic groups in Israel. J Neurol 256(3):483-487
-
(2009)
J Neurol
, vol.256
, Issue.3
, pp. 483-487
-
-
Hassin-Baer, S.1
Laitman, Y.2
Azizi, E.3
Molchadski, I.4
Galore-Haskel, G.5
Barak, F.6
-
15
-
-
31344432937
-
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs [13]
-
DOI 10.1056/NEJMc055540
-
Lesage S, Dürr A, Tazir M, Lohmann E, Leutenegger A-L, Janin S et al (2006) LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 354(4):422-423 (Pubitemid 43145082)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.4
, pp. 422-423
-
-
Lesage, S.1
Durr, A.2
Tazir, M.3
Lohmann, E.4
Leutenegger, A.-L.5
Janin, S.6
Pollak, P.7
Brice, A.8
-
16
-
-
31344439221
-
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews [14]
-
DOI 10.1056/NEJMc055509
-
Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M et al (2006) LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 354(4):424-425 (Pubitemid 43145083)
-
(2006)
New England Journal of Medicine
, vol.354
, Issue.4
, pp. 424-425
-
-
Ozelius, L.J.1
Senthil, G.2
Saunders-Pullman, R.3
Ohmann, E.4
Deligtisch, A.5
Tagliati, M.6
Hunt, A.L.7
Klein, C.8
Henick, B.9
Hailpern, S.M.10
Lipton, R.B.11
Soto-Valencia, J.12
Risch, N.13
Bressman, S.B.14
-
17
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
-
DOI 10.1016/j.neuron.2004.10.023, PII S0896627304006890
-
Paisán-Ruíz C, Jain S, Evans EW, Gilks WP, Simón J, Van der Brug M et al (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44(4):595-600 (Pubitemid 39531224)
-
(2004)
Neuron
, vol.44
, Issue.4
, pp. 595-600
-
-
Paisan-Ruiz, C.1
Jain, S.2
Evans, E.W.3
Gilks, W.P.4
Simon, J.5
Van Der Brug, M.6
De Munain, A.L.7
Aparicio, S.8
Gil, A.M.9
Khan, N.10
Johnson, J.11
Martinez, J.R.12
Nicholl, D.13
Carrera, I.M.14
Pena, A.S.15
De Silva, R.16
Lees, A.17
Marti-Masso, J.F.18
Perez-Tur, J.19
Wood, N.W.20
Singleton, A.B.21
more..
-
18
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
DOI 10.1016/j.neuron.2004.11.005, PII S0896627304007202
-
Zimprich A, Biskup S, Leitner P, Lichtner P, Farrer M, Lincoln S et al (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44(4):601-607 (Pubitemid 39531225)
-
(2004)
Neuron
, vol.44
, Issue.4
, pp. 601-607
-
-
Zimprich, A.1
Biskup, S.2
Leitner, P.3
Lichtner, P.4
Farrer, M.5
Lincoln, S.6
Kachergus, J.7
Hulihan, M.8
Uitti, R.J.9
Calne, D.B.10
Stoessl, A.J.11
Pfeiffer, R.F.12
Patenge, N.13
Carbajal, I.C.14
Vieregge, P.15
Asmus, F.16
Muller-Myhsok, B.17
Dickson, D.W.18
Meitinger, T.19
Strom, T.M.20
Wszolek, Z.K.21
Gasser, T.22
more..
-
19
-
-
57649188649
-
The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: The GenePD study
-
Latourelle JC, Sun M, Lew MF, Suchowersky O, Klein C, Golbe LI et al (2008) The Gly2019Ser mutation in LRRK2 is not fully penetrant in familial Parkinson's disease: the GenePD study. BMC Med 6:32
-
(2008)
BMC Med
, vol.6
, pp. 32
-
-
Latourelle, J.C.1
Sun, M.2
Lew, M.F.3
Suchowersky, O.4
Klein, C.5
Golbe, L.I.6
-
20
-
-
78649389313
-
The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease
-
doi:10.1038/nrn2935
-
Cookson MR (2010) The role of leucine-rich repeat kinase 2 (LRRK2) in Parkinson's disease. Nat Rev Neurosci 11(12):791-797. doi:10.1038/nrn2935
-
(2010)
Nat Rev Neurosci
, vol.11
, Issue.12
, pp. 791-797
-
-
Cookson, M.R.1
-
21
-
-
84856070973
-
LRRK2 and human disease: A complicated question or a question of complexes?
-
doi:10.1126/scisignal.2002680
-
Lewis PA, Manzoni C (2012) LRRK2 and human disease: a complicated question or a question of complexes? Sci Signal 5(207):pe2. doi:10.1126/ scisignal.2002680
-
(2012)
Sci Signal
, vol.5
, Issue.207
-
-
Lewis, P.A.1
Manzoni, C.2
-
22
-
-
60049098664
-
The function of ROCO proteins in health and disease
-
Lewis PA (2009) The function of ROCO proteins in health and disease. Biol Cell/Under Auspices Eur Cell Biol Organ 101(3):183-191
-
(2009)
Biol Cell/Under Auspices Eur Cell Biol Organ
, vol.101
, Issue.3
, pp. 183-191
-
-
Lewis, P.A.1
-
23
-
-
78650709936
-
Cancer and neurodegeneration: Between the devil and the deep blue sea
-
doi:10.1371/journal.pgen.1001257
-
Plun-Favreau H, Lewis PA, Hardy J, Martins LM, Wood NW (2010) Cancer and neurodegeneration: between the devil and the deep blue sea. PLoS Genet 6(12):e1001257. doi:10.1371/journal.pgen.1001257
-
(2010)
PLoS Genet
, vol.6
, Issue.12
-
-
Plun-Favreau, H.1
Lewis, P.A.2
Hardy, J.3
Martins, L.M.4
Wood, N.W.5
-
24
-
-
77955293560
-
Parkinson's disease and cancer risk: A systematic review and meta-analysis
-
Bajaj A, Driver JA, Schernhammer ES (2010) Parkinson's disease and cancer risk: a systematic review and meta-analysis. Cancer Causes Control: CCC 21(5):697-707
-
(2010)
Cancer Causes Control: CCC
, vol.21
, Issue.5
, pp. 697-707
-
-
Bajaj, A.1
Driver, J.A.2
Schernhammer, E.S.3
-
25
-
-
77953801296
-
Genetic determinants at the interface of cancer and neurodegenerative disease
-
Morris LGT, Veeriah S, Chan TA (2010) Genetic determinants at the interface of cancer and neurodegenerative disease. Oncogene 29(24):3453-3464
-
(2010)
Oncogene
, vol.29
, Issue.24
, pp. 3453-3464
-
-
Morris, L.G.T.1
Veeriah, S.2
Chan, T.A.3
-
26
-
-
78349246706
-
LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease
-
Saunders-Pullman R, Barrett MJ, Stanley KM, Luciano MS, Shanker V, Severt L et al (2010) LRRK2 G2019S mutations are associated with an increased cancer risk in Parkinson disease. Mov Disord: Off J Mov Disord Soc 25(15):2536-2541
-
(2010)
Mov Disord: Off J Mov Disord Soc
, vol.25
, Issue.15
, pp. 2536-2541
-
-
Saunders-Pullman, R.1
Barrett, M.J.2
Stanley, K.M.3
Luciano, M.S.4
Shanker, V.5
Severt, L.6
-
27
-
-
80051488602
-
VPS35 mutations in Parkinson disease
-
Vilariño-Güell C, Wider C, Ross OA, Dachsel JC, Kachergus JM, Lincoln SJ et al (2011) VPS35 mutations in Parkinson disease. Am J Hum Genet 89(1):162-167
-
(2011)
Am J Hum Genet
, vol.89
, Issue.1
, pp. 162-167
-
-
Vilariño-Güell, C.1
Wider, C.2
Ross, O.A.3
Dachsel, J.C.4
Kachergus, J.M.5
Lincoln, S.J.6
-
28
-
-
84860767366
-
Identification of VPS35 mutations replicated in French families with Parkinson disease
-
French Parkinson's Disease Genetics Study Group doi:10.1212/WNL. 0b013e318253d5f2
-
Lesage S, Condroyer C, Klebe S, Honoré A, Tison F, Brefel-Courbon C, Dürr A, Brice A; French Parkinson's Disease Genetics Study Group (2012) Identification of VPS35 mutations replicated in French families with Parkinson disease. Neurology 78(18):1449-1450. doi:10.1212/WNL.0b013e318253d5f2
-
(2012)
Neurology
, vol.78
, Issue.18
, pp. 1449-1450
-
-
Lesage, S.1
Condroyer, C.2
Klebe, S.3
Honoré, A.4
Tison, F.5
Brefel-Courbon, C.6
Dürr, A.7
Brice, A.8
-
29
-
-
84870287920
-
A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants
-
Sharma M, Ioannidis JP a, Aasly JO, Annesi G, Brice A, Bertram L et al (2012) A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants. J Med Genet 49(11):721-726
-
(2012)
J Med Genet
, vol.49
, Issue.11
, pp. 721-726
-
-
Sharma, M.1
Ioannidis, J.P.2
Aasly, J.O.3
Annesi, G.4
Brice, A.5
Bertram, L.6
-
30
-
-
84856956020
-
Screening for VPS35 mutations in Parkinson's disease
-
Sheerin U-M, Charlesworth G, Bras J, Guerreiro R, Bhatia K, Foltynie T et al (2012) Screening for VPS35 mutations in Parkinson's disease. Neurobiol Aging 33(4):838.e1-838.e5
-
(2012)
Neurobiol Aging
, vol.33
, Issue.4
-
-
Sheerin, U.-M.1
Charlesworth, G.2
Bras, J.3
Guerreiro, R.4
Bhatia, K.5
Foltynie, T.6
-
31
-
-
84866598540
-
VPS35 mutation in Japanese patients with typical Parkinson's disease
-
Ando M, Funayama M, Li Y, Kashihara K, Murakami Y, Ishizu N et al (2012) VPS35 mutation in Japanese patients with typical Parkinson's disease. Mov Disord: Off J Mov Disord Soc 27(11):1413-1417
-
(2012)
Mov Disord: Off J Mov Disord Soc
, vol.27
, Issue.11
, pp. 1413-1417
-
-
Ando, M.1
Funayama, M.2
Li, Y.3
Kashihara, K.4
Murakami, Y.5
Ishizu, N.6
-
32
-
-
80052780004
-
Translation initiator EIF4G1 mutations in familial Parkinson disease
-
Chartier-Harlin M-C, Dachsel JC, Vilariño-Güell C, Lincoln SJ, Leprêtre F, Hulihan MM et al (2011) Translation initiator EIF4G1 mutations in familial Parkinson disease. Am J Hum Genet 89(3):398-406
-
(2011)
Am J Hum Genet
, vol.89
, Issue.3
, pp. 398-406
-
-
Chartier-Harlin, M.-C.1
Dachsel, J.C.2
Vilariño-Güell, C.3
Lincoln, S.J.4
Leprêtre, F.5
Hulihan, M.M.6
-
33
-
-
84861530514
-
Study of the genetic variability in a Parkinson's disease gene: EIF4G1
-
Tucci A, Charlesworth G, Sheerin U-M, Plagnol V, Wood NW, Hardy J (2012) Study of the genetic variability in a Parkinson's disease gene: EIF4G1. Neurosci Lett 518(1):19-22
-
(2012)
Neurosci Lett
, vol.518
, Issue.1
, pp. 19-22
-
-
Tucci, A.1
Charlesworth, G.2
Sheerin, U.-M.3
Plagnol, V.4
Wood, N.W.5
Hardy, J.6
-
34
-
-
84876261148
-
Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease
-
Nuytemans K, Bademci G, Inchausti V, Dressen A, Kinnamon DD, Mehta A et al (2013) Whole exome sequencing of rare variants in EIF4G1 and VPS35 in Parkinson disease. Neurology 80(11):982-989
-
(2013)
Neurology
, vol.80
, Issue.11
, pp. 982-989
-
-
Nuytemans, K.1
Bademci, G.2
Inchausti, V.3
Dressen, A.4
Kinnamon, D.D.5
Mehta, A.6
-
35
-
-
84863469671
-
EIF4G1 in familial Parkinson's disease: Pathogenic mutations or rare benign variants?
-
Lesage S, Condroyer C, Klebe S, Lohmann E, Durif F, Damier P et al (2012) EIF4G1 in familial Parkinson's disease: pathogenic mutations or rare benign variants? Neurobiol Aging 33(9):2233.e1-2233.e5
-
(2012)
Neurobiol Aging
, vol.33
, Issue.9
-
-
Lesage, S.1
Condroyer, C.2
Klebe, S.3
Lohmann, E.4
Durif, F.5
Damier, P.6
-
36
-
-
84865021853
-
Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease
-
Schulte EC, Mollenhauer B, Zimprich A, Bereznai B, Lichtner P, Haubenberger D et al (2012) Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease. Neurogenetics 13(3):281-285
-
(2012)
Neurogenetics
, vol.13
, Issue.3
, pp. 281-285
-
-
Schulte, E.C.1
Mollenhauer, B.2
Zimprich, A.3
Bereznai, B.4
Lichtner, P.5
Haubenberger, D.6
-
37
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
DOI 10.1038/33416
-
Kitada T, Askawa S, Hattori N, Matsumine H, Yokochi M, Mizuno Y et al (1998) Mutations in the parkin gene cause autosomal recessive juvenile Parkinsonism. Nature 392:605-608 (Pubitemid 28207717)
-
(1998)
Nature
, vol.392
, Issue.6676
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
38
-
-
84867746758
-
Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease
-
Kilarski LL, Pearson JP, Newsway V, Majounie E, Knipe MDW, Misbahuddin A et al (2012) Systematic Review and UK-Based Study of PARK2 (parkin), PINK1, PARK7 (DJ-1) and LRRK2 in early-onset Parkinson's disease. Mov Disord 27(12):1522-1529
-
(2012)
Mov Disord
, vol.27
, Issue.12
, pp. 1522-1529
-
-
Kilarski, L.L.1
Pearson, J.P.2
Newsway, V.3
Majounie, E.4
Knipe, M.D.W.5
Misbahuddin, A.6
-
39
-
-
77954104112
-
Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: A mutation update
-
Nuytemans K, Theuns J, Cruts M, Van Broeckhoven C (2010) Genetic etiology of Parkinson disease associated with mutations in the SNCA, PARK2, PINK1, PARK7, and LRRK2 genes: a mutation update. Hum Mutat 31(7):763-780
-
(2010)
Hum Mutat
, vol.31
, Issue.7
, pp. 763-780
-
-
Nuytemans, K.1
Theuns, J.2
Cruts, M.3
Van Broeckhoven, C.4
-
40
-
-
0033933048
-
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
-
DOI 10.1038/77060
-
Shimura H, Hattori N, Kubo S i, Mizuno Y, Asakawa S, Minoshima S et al (2000) Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 25(3):302-305 (Pubitemid 30437317)
-
(2000)
Nature Genetics
, vol.25
, Issue.3
, pp. 302-305
-
-
Shimura, H.1
Hattori, N.2
Kubo, S.-I.3
Mizuno, Y.4
Asakawa, S.5
Minoshima, S.6
Shimizu, N.7
Iwai, K.8
Chiba, T.9
Tanaka, K.10
Suzuki, T.11
-
41
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
DOI 10.1126/science.1096284
-
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, Gispert S et al (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304(5674):1158-1160 (New York, N.Y.) (Pubitemid 38661852)
-
(2004)
Science
, vol.304
, Issue.5674
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.K.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del, T.D.8
Bentivoglio, A.R.9
Healy, D.G.10
Albanese, A.11
Nussbaum, R.12
Gonzalez-Maldonado, R.13
Deller, T.14
Salvi, S.15
Cortelli, P.16
Gilks, W.P.17
Latchman, D.S.18
Harvey, R.J.19
Dallapiccola, B.20
Auburger, G.21
Wood, N.W.22
more..
-
42
-
-
79959305691
-
Mitochondria: The next (neurode) generation
-
Schon E a, Przedborski S (2011) Mitochondria: the next (neurode) generation. Neuron 70(6):1033-1053
-
(2011)
Neuron
, vol.70
, Issue.6
, pp. 1033-1053
-
-
Schon, E.1
Przedborski, S.2
-
43
-
-
33644778845
-
Parkin enhances mitochondrial biogenesis in proliferating cells
-
DOI 10.1093/hmg/ddl006
-
Kuroda Y, Mitsui T, Kunishige M, Shono M, Akaike M, Azuma H et al (2006) Parkin enhances mitochondrial biogenesis in proliferating cells. Hum Mol Genet 15(6):883-895 (Pubitemid 43338230)
-
(2006)
Human Molecular Genetics
, vol.15
, Issue.6
, pp. 883-895
-
-
Kuroda, Y.1
Mitsui, T.2
Kunishige, M.3
Shono, M.4
Akaike, M.5
Azuma, H.6
Matsumoto, T.7
-
44
-
-
79952303794
-
PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease
-
Shin J-H, Ko HS, Kang H, Lee Y, Lee Y-I, Pletinkova O et al (2011) PARIS (ZNF746) repression of PGC-1α contributes to neurodegeneration in Parkinson's disease. Cell 144(5):689-702
-
(2011)
Cell
, vol.144
, Issue.5
, pp. 689-702
-
-
Shin, J.-H.1
Ko, H.S.2
Kang, H.3
Lee, Y.4
Lee, Y.-I.5
Pletinkova, O.6
-
45
-
-
33745589773
-
Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin
-
DOI 10.1038/nature04779, PII N04779
-
Clark IE, Dodson MW, Jiang C, Cao JH, Huh JR, Seol JH et al (2006) Drosophila pink1 is required for mitochondrial function and interacts genetically with parkin. Nature 441(7097):1162-1166 (Pubitemid 43990738)
-
(2006)
Nature
, vol.441
, Issue.7097
, pp. 1162-1166
-
-
Clark, I.E.1
Dodson, M.W.2
Jiang, C.3
Cao, J.H.4
Huh, J.R.5
Seol, J.H.6
Yoo, S.J.7
Hay, B.A.8
Guo, M.9
-
46
-
-
33745602748
-
Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin
-
DOI 10.1038/nature04788, PII N04788
-
Park J, Lee SB, Lee S, Kim Y, Song S, Kim S et al (2006) Mitochondrial dysfunction in Drosophila PINK1 mutants is complemented by parkin. Nature 441(7097):1157-1161 (Pubitemid 43990737)
-
(2006)
Nature
, vol.441
, Issue.7097
, pp. 1157-1161
-
-
Park, J.1
Lee, S.B.2
Lee, S.3
Kim, Y.4
Song, S.5
Kim, S.6
Bae, E.7
Kim, J.8
Shong, M.9
Kim, J.-M.10
Chung, J.11
-
47
-
-
61649088435
-
PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death
-
Gandhi S, Wood-Kaczmar A, Yao Z, Plun-Favreau H, Deas E, Klupsch K et al (2009) PINK1-associated Parkinson's disease is caused by neuronal vulnerability to calcium-induced cell death. Mol Cell 33(5):627-638
-
(2009)
Mol Cell
, vol.33
, Issue.5
, pp. 627-638
-
-
Gandhi, S.1
Wood-Kaczmar, A.2
Yao, Z.3
Plun-Favreau, H.4
Deas, E.5
Klupsch, K.6
-
48
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
DOI 10.1126/science.1077209
-
Bonifati V, Rizzu P, Van Baren MJ, Schaap O, Breedveld GJ, Krieger E et al (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299(5604):256-259 (New York, N.Y.) (Pubitemid 36131051)
-
(2003)
Science
, vol.299
, Issue.5604
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
Van Baren, M.J.3
Schaap, O.4
Breedveld, G.J.5
Krieger, E.6
Dekker, M.C.J.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
Van Dongen, J.W.11
Vanacore, N.12
Van Swieten, J.C.13
Brice, A.14
Meco, G.15
Van Duijn, C.M.16
Oostra, B.A.17
Heutink, P.18
-
49
-
-
2942684871
-
The Parkinson's disease DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization
-
DOI 10.1073/pnas.0402959101
-
Canet-Avilés RM, Wilson MA, Miller DW, Ahmad R, McLendon C, Bandyopadhyay S et al (2004) The Parkinson's disease protein DJ-1 is neuroprotective due to cysteine-sulfinic acid-driven mitochondrial localization. Proc Natl Acad Sci USA 101(24):9103-9108 (Pubitemid 38781618)
-
(2004)
Proceedings of the National Academy of Sciences of the United States of America
, vol.101
, Issue.24
, pp. 9103-9108
-
-
Canet-Aviles, R.M.1
Wilson, M.A.2
Miller, D.W.3
Ahmad, R.4
McLendon, C.5
Bandyopadhyay, S.6
Baptista, M.J.7
Ringe, D.8
Petsko, G.A.9
Cookson, M.R.10
-
50
-
-
84875495333
-
Lewy body pathology in a patient with a homozygous Parkin deletion
-
Miyakawa S, Ogino M, Funabe S, Uchino A, Shimo Y, Hattori N et al (2013) Lewy body pathology in a patient with a homozygous Parkin deletion. Mov Disord: Off J Mov Disord Soc 28(3):388-391
-
(2013)
Mov Disord: Off J Mov Disord Soc
, vol.28
, Issue.3
, pp. 388-391
-
-
Miyakawa, S.1
Ogino, M.2
Funabe, S.3
Uchino, A.4
Shimo, Y.5
Hattori, N.6
-
51
-
-
84877727171
-
Parkin disease: A clinicopathologic entity?
-
Doherty KM, Silveira-Moriyama L, Parkkinen L, Healy DG, Farrell M, Mencacci NE et al (2013) Parkin disease: A clinicopathologic entity? JAMA Neurol 4:1-9
-
(2013)
JAMA Neurol
, vol.4
, pp. 1-9
-
-
Doherty, K.M.1
Silveira-Moriyama, L.2
Parkkinen, L.3
Healy, D.G.4
Farrell, M.5
Mencacci, N.E.6
-
52
-
-
70450224253
-
Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease
-
Ahlskog JE (2009) Parkin and PINK1 parkinsonism may represent nigral mitochondrial cytopathies distinct from Lewy body Parkinson's disease. Parkinsonism Relat Disord 15(10):721-727
-
(2009)
Parkinsonism Relat Disord
, vol.15
, Issue.10
, pp. 721-727
-
-
Ahlskog, J.E.1
-
53
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
DOI 10.1038/ng1884, PII NG1884
-
Ramirez A, Heimbach A, Gründemann J, Stiller B, Hampshire D, Cid LP et al (2006) Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat Genet 38(10):1184-1191 (Pubitemid 44470365)
-
(2006)
Nature Genetics
, vol.38
, Issue.10
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Grundemann, J.3
Stiller, B.4
Hampshire, D.5
Cid, L.P.6
Goebel, I.7
Mubaidin, A.F.8
Wriekat, A.-L.9
Roeper, J.10
Al-Din, A.11
Hillmer, A.M.12
Karsak, M.13
Liss, B.14
Woods, C.G.15
Behrens, M.I.16
Kubisch, C.17
-
54
-
-
84858403126
-
Deficiency of ATP13A2 leads to lysosomal dysfunction, asynuclein accumulation, and neurotoxicity
-
Usenovic M, Tresse E, Mazzulli JR, Taylor JP, Krainc D (2012) Deficiency of ATP13A2 leads to lysosomal dysfunction, asynuclein accumulation, and neurotoxicity. J Neurosci: Off J Soc Neurosci 32(12):4240-4246
-
(2012)
J Neurosci: Off J Soc Neurosci
, vol.32
, Issue.12
, pp. 4240-4246
-
-
Usenovic, M.1
Tresse, E.2
Mazzulli, J.R.3
Taylor, J.P.4
Krainc, D.5
-
55
-
-
77953512439
-
Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations
-
Paisán-Ruiz C, Guevara R, Federoff M, Hanagasi H, Sina F, Elahi E et al (2010) Early-onset L-dopa-responsive parkinsonism with pyramidal signs due to ATP13A2, PLA2G6, FBXO7 and spatacsin mutations. Mov Disord: Off J Mov Disord Soc 25(12):1791-1800
-
(2010)
Mov Disord: Off J Mov Disord Soc
, vol.25
, Issue.12
, pp. 1791-1800
-
-
Paisán-Ruiz, C.1
Guevara, R.2
Federoff, M.3
Hanagasi, H.4
Sina, F.5
Elahi, E.6
-
56
-
-
60849121924
-
Characterization of PLA2G6 as a locus for dystonia-parkinsonism
-
Paisan-Ruiz C, Bhatia KP, Li A, Hernandez D, Davis M, Wood NW et al (2009) Characterization of PLA2G6 as a locus for dystonia-parkinsonism. Ann Neurol 65(1):19-23
-
(2009)
Ann Neurol
, vol.65
, Issue.1
, pp. 19-23
-
-
Paisan-Ruiz, C.1
Bhatia, K.P.2
Li, A.3
Hernandez, D.4
Davis, M.5
Wood, N.W.6
-
57
-
-
81955160792
-
The PLA2G6 gene in early-onset Parkinson's disease
-
Kauther KM, Höft C, Rissling I, Oertel WH, Möller JC (2011) The PLA2G6 gene in early-onset Parkinson's disease. Mov Disord: Off J Mov Disord Soc 26(13):2415-2417
-
(2011)
Mov Disord: Off J Mov Disord Soc
, vol.26
, Issue.13
, pp. 2415-2417
-
-
Kauther, K.M.1
Höft, C.2
Rissling, I.3
Oertel, W.H.4
Möller, J.C.5
-
58
-
-
59649088353
-
FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome
-
Di Fonzo A, Dekker MCJ, Montagna P, Baruzzi A, Yonova EH (2009) Correia Guedes L, et al. FBXO7 mutations cause autosomal recessive, early-onset parkinsonian-pyramidal syndrome. Neurology 72(3):240-245
-
(2009)
Neurology
, vol.72
, Issue.3
, pp. 240-245
-
-
Di Fonzo, A.1
Dekker, M.C.J.2
Montagna, P.3
Baruzzi, A.4
Yonova, E.H.5
Correia Guedes, L.6
-
59
-
-
84863688304
-
F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease
-
Deng H, Liang H, Jankovic J (2012) F-Box Only Protein 7 Gene in Parkinsonian-Pyramidal Disease. Archives Neurol 1:1-5
-
(2012)
Archives Neurol
, vol.1
, pp. 1-5
-
-
Deng, H.1
Liang, H.2
Jankovic, J.3
-
60
-
-
84858009799
-
Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease
-
Simón-Sánchez J, Kilarski LL, Nalls MA, Martinez M, Schulte C, Holmans P et al (2012) Cooperative genome-wide analysis shows increased homozygosity in early onset Parkinson's disease. PLoS ONE 7(3):e28787
-
(2012)
PLoS ONE
, vol.7
, Issue.3
-
-
Simón-Sánchez, J.1
Kilarski, L.L.2
Nalls, M.A.3
Martinez, M.4
Schulte, C.5
Holmans, P.6
-
61
-
-
70549088602
-
Genome-wide association study reveals genetic risk underlying Parkinson's disease
-
Simón-Sánchez J, Schulte C, Bras JM, Sharma M, Gibbs JR, Berg D et al (2009) Genome-wide association study reveals genetic risk underlying Parkinson's disease. Nat Genet 41(12):1308-1312
-
(2009)
Nat Genet
, vol.41
, Issue.12
, pp. 1308-1312
-
-
Simón-Sánchez, J.1
Schulte, C.2
Bras, J.M.3
Sharma, M.4
Gibbs, J.R.5
Berg, D.6
-
62
-
-
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, Hirota Y, Ito C, Kubo M et al (2009) Genome-wide association study identifies common variants at four loci as genetic risk factors for Parkinson's disease. Nat Genet 41(12):1303-1307
-
(2009)
Nat Genet
, vol.41
, Issue.12
, pp. 1303-1307
-
-
Satake, W.1
Nakabayashi, Y.2
Mizuta, I.3
Hirota, Y.4
Ito, C.5
Kubo, M.6
-
63
-
-
84859199353
-
Meta-analysis of Parkinson's disease: Identification of a novel locus, RIT2
-
Pankratz N, Beecham GW, DeStefano AL, Dawson TM, Doheny KF, Factor SA et al (2012) Meta-analysis of Parkinson's disease: identification of a novel locus, RIT2. Ann Neurol 71(3):370-384
-
(2012)
Ann Neurol
, vol.71
, Issue.3
, pp. 370-384
-
-
Pankratz, N.1
Beecham, G.W.2
DeStefano, A.L.3
Dawson, T.M.4
Doheny, K.F.5
Factor, S.A.6
-
64
-
-
58149100151
-
Genomewide association study for susceptibility genes contributing to familial Parkinson disease
-
Pankratz N, Wilk JB, Latourelle JC, DeStefano AL, Halter C, Pugh EW et al (2009) Genomewide association study for susceptibility genes contributing to familial Parkinson disease. Hum Genet 124(6):593-605
-
(2009)
Hum Genet
, vol.124
, Issue.6
, pp. 593-605
-
-
Pankratz, N.1
Wilk, J.B.2
Latourelle, J.C.3
DeStefano, A.L.4
Halter, C.5
Pugh, E.W.6
-
65
-
-
77951185469
-
Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease
-
Edwards TL, Scott WK, Almonte C, Burt A, Powell EH, Beecham GW et al (2010) Genome-wide association study confirms SNPs in SNCA and the MAPT region as common risk factors for Parkinson disease. Ann Hum Genet 74(2):97-109
-
(2010)
Ann Hum Genet
, vol.74
, Issue.2
, pp. 97-109
-
-
Edwards, T.L.1
Scott, W.K.2
Almonte, C.3
Burt, A.4
Powell, E.H.5
Beecham, G.W.6
-
66
-
-
77956646167
-
Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease
-
Hamza TH, Zabetian CP, Tenesa A, Laederach A, Montimurro J, Yearout D et al (2010) Common genetic variation in the HLA region is associated with late-onset sporadic Parkinson's disease. Nat Genet 42(9):781-785
-
(2010)
Nat Genet
, vol.42
, Issue.9
, pp. 781-785
-
-
Hamza, T.H.1
Zabetian, C.P.2
Tenesa, A.3
Laederach, A.4
Montimurro, J.5
Yearout, D.6
-
67
-
-
78651110778
-
Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population
-
Saad M, Lesage S, Saint-Pierre A, Corvol J-C, Zelenika D, Lambert J-C et al (2011) Genome-wide association study confirms BST1 and suggests a locus on 12q24 as the risk loci for Parkinson's disease in the European population. Hum Mol Genet 20(3):615-627
-
(2011)
Hum Mol Genet
, vol.20
, Issue.3
, pp. 615-627
-
-
Saad, M.1
Lesage, S.2
Saint-Pierre, A.3
Corvol, J.-C.4
Zelenika, D.5
Lambert, J.-C.6
-
68
-
-
78650550275
-
Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21
-
Spencer CCA, Plagnol V, Strange A, Gardner M, Paisan-Ruiz C, Band G et al (2011) Dissection of the genetics of Parkinson's disease identifies an additional association 5′ of SNCA and multiple associated haplotypes at 17q21. Hum Mol Genet 20(2):345-353
-
(2011)
Hum Mol Genet
, vol.20
, Issue.2
, pp. 345-353
-
-
Spencer, C.C.A.1
Plagnol, V.2
Strange, A.3
Gardner, M.4
Paisan-Ruiz, C.5
Band, G.6
-
69
-
-
79951811351
-
Imputation of sequence variants for identification of genetic risks for Parkinson's disease: A meta-analysis of genome-wide association studies
-
Nalls MA, Plagnol V, Hernandez DG, Sharma M, Sheerin U-M, Saad M et al (2011) Imputation of sequence variants for identification of genetic risks for Parkinson's disease: a meta-analysis of genome-wide association studies. Lancet 377(9766):641-649
-
(2011)
Lancet
, vol.377
, Issue.9766
, pp. 641-649
-
-
Nalls, M.A.1
Plagnol, V.2
Hernandez, D.G.3
Sharma, M.4
Sheerin, U.-M.5
Saad, M.6
-
70
-
-
79959851714
-
A two-stage meta-analysis identifies several new loci for Parkinson's disease
-
Plagnol V, Nalls MA, Bras JM, Hernandez DG, Sharma M, Sheerin U-M et al (2011) A two-stage meta-analysis identifies several new loci for Parkinson's disease. PLoS Genet 7(6):e1002142
-
(2011)
PLoS Genet
, vol.7
, Issue.6
-
-
Plagnol, V.1
Nalls, M.A.2
Bras, J.M.3
Hernandez, D.G.4
Sharma, M.5
Sheerin, U.-M.6
-
71
-
-
79959841853
-
Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease
-
Do CB, Tung JY, Dorfman E, Kiefer AK, Drabant EM, Francke U et al (2011) Web-based genome-wide association study identifies two novel loci and a substantial genetic component for Parkinson's disease. PLoS Genet 7(6):e1002141
-
(2011)
PLoS Genet
, vol.7
, Issue.6
-
-
Do, C.B.1
Tung, J.Y.2
Dorfman, E.3
Kiefer, A.K.4
Drabant, E.M.5
Francke, U.6
-
72
-
-
79960981876
-
Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population
-
Liu X, Cheng R, Verbitsky M, Kisselev S, Browne A, Mejia-Sanatana H et al (2011) Genome-wide association study identifies candidate genes for Parkinson's disease in an Ashkenazi Jewish population. BMC Med Genet 12:104
-
(2011)
BMC Med Genet
, vol.12
, pp. 104
-
-
Liu, X.1
Cheng, R.2
Verbitsky, M.3
Kisselev, S.4
Browne, A.5
Mejia-Sanatana, H.6
-
73
-
-
84875257430
-
Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease
-
Pihlstrøm L, Axelsson G, Bjørnarå KA, Dizdar N, Fardell C, Forsgren L et al (2012) Supportive evidence for 11 loci from genome-wide association studies in Parkinson's disease. Neurobiol Aging 34(6):1708.e7-1708.e13
-
(2012)
Neurobiol Aging
, vol.34
, Issue.6
-
-
Pihlstrøm, L.1
Axelsson, G.2
Bjørnarå, K.A.3
Dizdar, N.4
Fardell, C.5
Forsgren, L.6
-
74
-
-
84865196862
-
Large-scale replication and heterogeneity in Parkinson disease genetic loci
-
Sharma M, Ioannidis JPA, Aasly JO, Annesi G, Brice A, Van Broeckhoven C et al (2012) Large-scale replication and heterogeneity in Parkinson disease genetic loci. Neurology 79(7):659-667
-
(2012)
Neurology
, vol.79
, Issue.7
, pp. 659-667
-
-
Sharma, M.1
Ioannidis, J.P.A.2
Aasly, J.O.3
Annesi, G.4
Brice, A.5
Van Broeckhoven, C.6
-
75
-
-
65949104586
-
Genomewide association studies and human disease
-
Hardy J, Singleton A (2009) Genomewide association studies and human disease. N Engl J Med 360(17):1759-1768
-
(2009)
N Engl J Med
, vol.360
, Issue.17
, pp. 1759-1768
-
-
Hardy, J.1
Singleton, A.2
-
76
-
-
34250305146
-
Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project
-
Birney E, Stamatoyannopoulos JA, Dutta A, Guigó R, Gingeras TR, Margulies EH et al (2007) Identification and analysis of functional elements in 1% of the human genome by the ENCODE pilot project. Nature 447(7146):799-816
-
(2007)
Nature
, vol.447
, Issue.7146
, pp. 799-816
-
-
Birney, E.1
Stamatoyannopoulos, J.A.2
Dutta, A.3
Guigó, R.4
Gingeras, T.R.5
Margulies, E.H.6
-
77
-
-
84868134823
-
Using genome-wide complex trait analysis to quantify "missing heritability" in Parkinson's disease
-
Keller MF, Saad M, Bras J, Bettella F, Nicolaou N, Simón- Sánchez J et al (2012) Using genome-wide complex trait analysis to quantify "missing heritability" in Parkinson's disease. Hum Mol Genet 21(22):4996-5009
-
(2012)
Hum Mol Genet
, vol.21
, Issue.22
, pp. 4996-5009
-
-
Keller, M.F.1
Saad, M.2
Bras, J.3
Bettella, F.4
Nicolaou, N.5
Simón- Sánchez, J.6
-
78
-
-
73949093664
-
Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: Large-scale collaborative study
-
Evangelou E, Maraganore DM, Annesi G, Brighina L, Brice A, Elbaz A et al (2010) Non-replication of association for six polymorphisms from meta-analysis of genome-wide association studies of Parkinson's disease: large-scale collaborative study. Am J Med Genet Part b, Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet 153B(1):220-228
-
(2010)
Am J Med Genet Part B, Neuropsychiatr Genet: Off Publ Int Soc Psychiatr Genet
, vol.153 B
, Issue.1
, pp. 220-228
-
-
Evangelou, E.1
Maraganore, D.M.2
Annesi, G.3
Brighina, L.4
Brice, A.5
Elbaz, A.6
-
79
-
-
12444296116
-
Gaucher disease with parkinsonian manifestations: Does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism?
-
DOI 10.1016/S1096-7192(03)00071-4
-
Tayebi N, Walker J, Stubblefield B, Orvisky E, LaMarca ME, Wong K et al (2003) Gaucher disease with parkinsonian manifestations: does glucocerebrosidase deficiency contribute to a vulnerability to parkinsonism? Mol Genet Metab 79(2):104-109 (Pubitemid 36693928)
-
(2003)
Molecular Genetics and Metabolism
, vol.79
, Issue.2
, pp. 104-109
-
-
Tayebi, N.1
Walker, J.2
Stubblefield, B.3
Orvisky, E.4
LaMarca, M.E.5
Wong, K.6
Rosenbaum, H.7
Schiffmann, R.8
Bembi, B.9
Sidransky, E.10
-
80
-
-
0029773625
-
Occurrence of Parkinson's syndrome in type I Gaucher disease
-
Neudorfer O, Giladi N, Elstein D, Abrahamov A, Turezkite T, Aghai E et al (1996) Occurrence of Parkinson's syndrome in type I Gaucher disease. QJM: Mon J Assoc Physicians 89(9):691-694 (Pubitemid 26319021)
-
(1996)
QJM - Monthly Journal of the Association of Physicians
, vol.89
, Issue.9
, pp. 691-694
-
-
Neudorfer, O.1
Giladi, N.2
Elstein, D.3
Abrahamov, A.4
Turezkite, T.5
Achai, E.6
Reches, A.7
Bembi, B.8
Zimran, A.9
-
81
-
-
0034848419
-
Gaucher disease and parkinsonism: A phenotypic and genotypic characterization
-
DOI 10.1006/mgme.2001.3201
-
Tayebi N, Callahan M, Madike V, Stubblefield BK, Orvisky E, Krasnewich D et al (2001) Gaucher disease and Parkinsonism: a phenotypic and genotypic characterization. Mol Genet Metab 73(4):313-321 (Pubitemid 32846370)
-
(2001)
Molecular Genetics and Metabolism
, vol.73
, Issue.4
, pp. 313-321
-
-
Tayebi, N.1
Callahan, M.2
Madike, V.3
Stubblefield, B.K.4
Orvisky, E.5
Krasnewich, D.6
Fillano, J.J.7
Sidransky, E.8
-
82
-
-
67650087652
-
Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease
-
Neumann J, Bras J, Deas E, O'Sullivan SS, Parkkinen L, Lachmann RH et al (2009) Glucocerebrosidase mutations in clinical and pathologically proven Parkinson's disease. Brain: J Neurol 132(Pt 7):1783-1794
-
(2009)
Brain: J Neurol
, vol.132
, Issue.PART 7
, pp. 1783-1794
-
-
Neumann, J.1
Bras, J.2
Deas, E.3
O'Sullivan, S.S.4
Parkkinen, L.5
Lachmann, R.H.6
-
83
-
-
70350319531
-
Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease
-
Sidransky E, Nalls M a, Aasly JO, Aharon-Peretz J, Annesi G, Barbosa ER et al (2009) Multicenter analysis of glucocerebrosidase mutations in Parkinson's disease. N Engl J Med 361(17):1651-1661
-
(2009)
N Engl J Med
, vol.361
, Issue.17
, pp. 1651-1661
-
-
Sidransky, E.1
Nalls, M.2
Aasly, J.O.3
Aharon-Peretz, J.4
Annesi, G.5
Barbosa, E.R.6
-
84
-
-
84874307778
-
Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort
-
Winder-Rhodes SE, Evans JR, Ban M, Mason SL, Williams-Gray CH, Foltynie T et al (2013) Glucocerebrosidase mutations influence the natural history of Parkinson's disease in a community-based incident cohort. Brain: J Neurol 136(Pt 2):392-399
-
(2013)
Brain: J Neurol
, vol.136
, Issue.PART 2
, pp. 392-399
-
-
Winder-Rhodes, S.E.1
Evans, J.R.2
Ban, M.3
Mason, S.L.4
Williams-Gray, C.H.5
Foltynie, T.6
-
85
-
-
84863986749
-
A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers
-
McNeill A, Duran R, Hughes DA, Mehta A, Schapira AHV (2012) A clinical and family history study of Parkinson's disease in heterozygous glucocerebrosidase mutation carriers. J Neurol Neurosurg Psychiatr 83(8):853-854
-
(2012)
J Neurol Neurosurg Psychiatr
, vol.83
, Issue.8
, pp. 853-854
-
-
McNeill, A.1
Duran, R.2
Hughes, D.A.3
Mehta, A.4
Schapira, A.H.V.5
-
86
-
-
84867036900
-
Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains
-
Gegg ME, Burke D, Heales SJR, Cooper JM, Hardy J, Wood NW et al (2012) Glucocerebrosidase deficiency in substantia nigra of parkinson disease brains. Ann Neurol 72(3):455-463
-
(2012)
Ann Neurol
, vol.72
, Issue.3
, pp. 455-463
-
-
Gegg, M.E.1
Burke, D.2
Heales, S.J.R.3
Cooper, J.M.4
Hardy, J.5
Wood, N.W.6
-
87
-
-
84856024666
-
A generalizable hypothesis for the genetic architecture of disease: Pleomorphic risk loci
-
Singleton A, Hardy J (2011) A generalizable hypothesis for the genetic architecture of disease: pleomorphic risk loci. Hum Mol Genet 20(2):158-162
-
(2011)
Hum Mol Genet
, vol.20
, Issue.2
, pp. 158-162
-
-
Singleton, A.1
Hardy, J.2
-
88
-
-
79952693640
-
Mitophagy and Parkinson's disease: The PINK1 - Parkin link
-
doi:10.1016/j.bbamcr.2010.08.007
-
Deas E, Wood NW, Plun-Favreau H (2010) Mitophagy and Parkinson's disease: the PINK1 - parkin link. Biochim Biophys Acta 1813(4):623-633. doi:10.1016/j.bbamcr.2010.08.007
-
(2010)
Biochim Biophys Acta
, vol.1813
, Issue.4
, pp. 623-633
-
-
Deas, E.1
Wood, N.W.2
Plun-Favreau, H.3
-
89
-
-
76949092128
-
The PINK1/Parkin pathway: A mitochondrial quality control system?
-
Whitworth AJ, Pallanck LJ (2009) The PINK1/Parkin pathway: a mitochondrial quality control system? J Bioenergetics Biomembranes 41(6):499-503
-
(2009)
J Bioenergetics Biomembranes
, vol.41
, Issue.6
, pp. 499-503
-
-
Whitworth, A.J.1
Pallanck, L.J.2
-
90
-
-
79551574736
-
PINK1 cleavage at position A103 by the mitochondrial protease PARL
-
Deas E, Plun-Favreau H, Gandhi S, Desmond H, Kjaer S, Loh SHY et al (2011) PINK1 cleavage at position A103 by the mitochondrial protease PARL. Hum Mol Genet 20(5):867-879
-
(2011)
Hum Mol Genet
, vol.20
, Issue.5
, pp. 867-879
-
-
Deas, E.1
Plun-Favreau, H.2
Gandhi, S.3
Desmond, H.4
Kjaer, S.5
Loh, S.H.Y.6
-
91
-
-
84867257217
-
Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5
-
Sekine S, Kanamaru Y, Koike M, Nishihara A, Okada M, Kinoshita H et al (2012) Rhomboid protease PARL mediates the mitochondrial membrane potential loss-induced cleavage of PGAM5. J Biol Chem 287(41):34635-34645
-
(2012)
J Biol Chem
, vol.287
, Issue.41
, pp. 34635-34645
-
-
Sekine, S.1
Kanamaru, Y.2
Koike, M.3
Nishihara, A.4
Okada, M.5
Kinoshita, H.6
-
92
-
-
58149314211
-
Parkin is recruited selectively to impaired mitochondria and promotes their autophagy
-
Narendra D, Tanaka A, Suen D-F, Youle RJ (2008) Parkin is recruited selectively to impaired mitochondria and promotes their autophagy. J Cell Biol 183(5):795-803
-
(2008)
J Cell Biol
, vol.183
, Issue.5
, pp. 795-803
-
-
Narendra, D.1
Tanaka, A.2
Suen, D.-F.3
Youle, R.J.4
-
94
-
-
78649463381
-
Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy
-
Gegg ME, Cooper JM, Chau K-Y, Rojo M, Schapira AHV, Taanman J-W (2010) Mitofusin 1 and mitofusin 2 are ubiquitinated in a PINK1/parkin-dependent manner upon induction of mitophagy. Hum Mol Genet 19(24):4861-4870
-
(2010)
Hum Mol Genet
, vol.19
, Issue.24
, pp. 4861-4870
-
-
Gegg, M.E.1
Cooper, J.M.2
Chau, K.-Y.3
Rojo, M.4
Schapira, A.H.V.5
Taanman, J.-W.6
-
95
-
-
77950384477
-
Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin
-
Ziviani E, Tao RN, Whitworth AJ (2010) Drosophila parkin requires PINK1 for mitochondrial translocation and ubiquitinates mitofusin. Proc Natl Acad Sci USA 107(11):5018-5023
-
(2010)
Proc Natl Acad Sci USA
, vol.107
, Issue.11
, pp. 5018-5023
-
-
Ziviani, E.1
Tao, R.N.2
Whitworth, A.J.3
-
96
-
-
84868575932
-
Mitochondrial quality control mediated by PINK1 and Parkin: Links to parkinsonism
-
doi:10.1101/cshperspect.a011338
-
Narendra D, Walker JE, Youle R (2012) Mitochondrial quality control mediated by PINK1 and Parkin: links to parkinsonism. Cold Spring Harb Perspect Biol 4(11). doi:10.1101/cshperspect.a011338
-
(2012)
Cold Spring Harb Perspect Biol
, vol.4
, Issue.11
-
-
Narendra, D.1
Walker, J.E.2
Youle, R.3
-
97
-
-
84859237566
-
Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria
-
Liu S, Sawada T, Lee S, Yu W, Silverio G, Alapatt P et al (2012) Parkinson's disease-associated kinase PINK1 regulates Miro protein level and axonal transport of mitochondria. PLoS Genet 8(3):e1002537
-
(2012)
PLoS Genet
, vol.8
, Issue.3
-
-
Liu, S.1
Sawada, T.2
Lee, S.3
Yu, W.4
Silverio, G.5
Alapatt, P.6
-
98
-
-
81055140895
-
PINK1 and parkin target miro for phosphorylation and degradation to arrest mitochondrial motility
-
Wang X, Winter D, Ashrafi G, Schlehe J, Wong YL, Selkoe D et al (2011) PINK1 and parkin target miro for phosphorylation and degradation to arrest mitochondrial motility. Cell 147(4):893-906
-
(2011)
Cell
, vol.147
, Issue.4
, pp. 893-906
-
-
Wang, X.1
Winter, D.2
Ashrafi, G.3
Schlehe, J.4
Wong, Y.L.5
Selkoe, D.6
-
99
-
-
84870013071
-
Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy
-
Sun Y, Vashisht AA, Tchieu J, Wohlschlegel JA, Dreier L (2012) Voltage-dependent anion channels (VDACs) recruit Parkin to defective mitochondria to promote mitochondrial autophagy. J Biol Chem 287(48):40652-40660
-
(2012)
J Biol Chem
, vol.287
, Issue.48
, pp. 40652-40660
-
-
Sun, Y.1
Vashisht, A.A.2
Tchieu, J.3
Wohlschlegel, J.A.4
Dreier, L.5
-
100
-
-
75949130828
-
PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1
-
Geisler S, Holmström KM, Skujat D, Fiesel FC, Rothfuss OC, Kahle PJ et al (2010) PINK1/Parkin-mediated mitophagy is dependent on VDAC1 and p62/SQSTM1. Nat Cell Biol 12(2):119-131
-
(2010)
Nat Cell Biol
, vol.12
, Issue.2
, pp. 119-131
-
-
Geisler, S.1
Holmström, K.M.2
Skujat, D.3
Fiesel, F.C.4
Rothfuss, O.C.5
Kahle, P.J.6
-
101
-
-
79960009804
-
Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies
-
doi:10.1016/j.cell.2011.06.001
-
Mazzulli JR, Xu YH, Sun Y, Knight AL, McLean PJ, Caldwell GA, Sidransky E, Grabowski GA, Krainc D (2011) Gaucher disease glucocerebrosidase and a-synuclein form a bidirectional pathogenic loop in synucleinopathies. Cell 146(1):37-52. doi:10.1016/j.cell.2011.06.001
-
(2011)
Cell
, vol.146
, Issue.1
, pp. 37-52
-
-
Mazzulli, J.R.1
Xu, Y.H.2
Sun, Y.3
Knight, A.L.4
McLean, P.J.5
Caldwell, G.A.6
Sidransky, E.7
Grabowski, G.A.8
Krainc, D.9
-
102
-
-
84873486299
-
A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease
-
Holmans P, Moskvina V, Jones L, Sharma M, Vedernikov A, Buchel F et al (2013) A pathway-based analysis provides additional support for an immune-related genetic susceptibility to Parkinson's disease. Hum Mol Genet 22(5):1039-1049
-
(2013)
Hum Mol Genet
, vol.22
, Issue.5
, pp. 1039-1049
-
-
Holmans, P.1
Moskvina, V.2
Jones, L.3
Sharma, M.4
Vedernikov, A.5
Buchel, F.6
-
103
-
-
77955759020
-
Association of the human leucocyte antigen region with susceptibility to Parkinson's disease
-
Saiki M, Baker A, Williams-Gray CH, Foltynie T, Goodman RS, Taylor CJ et al (2010) Association of the human leucocyte antigen region with susceptibility to Parkinson's disease. J Neurol Neurosurg Psychiatr 81(8):890-891
-
(2010)
J Neurol Neurosurg Psychiatr
, vol.81
, Issue.8
, pp. 890-891
-
-
Saiki, M.1
Baker, A.2
Williams-Gray, C.H.3
Foltynie, T.4
Goodman, R.S.5
Taylor, C.J.6
-
105
-
-
84856966934
-
Tau acts as an independent genetic risk factor in pathologically proven PD
-
Charlesworth G, Gandhi S, Bras JM, Barker RA, Burn DJ, Chinnery PF et al (2012) Tau acts as an independent genetic risk factor in pathologically proven PD. Neurobiol Aging 33(4):838.e7-838.e11
-
(2012)
Neurobiol Aging
, vol.33
, Issue.4
-
-
Charlesworth, G.1
Gandhi, S.2
Bras, J.M.3
Barker, R.A.4
Burn, D.J.5
Chinnery, P.F.6
|