-
1
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente EM, Abou-Sleiman PM, Caputo V, et al. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 2004,304: 1158-1160.
-
(2004)
Science
, vol.304
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
-
2
-
-
22044432781
-
Early-onset parkinsonism associated with PINK1 mutations: Frequency, genotypes, and phenotypes
-
Bonifati V, Rohe CF, Breedveld GJ, et al. Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology, 2005, 65:87-95.
-
(2005)
Neurology
, vol.65
, pp. 87-95
-
-
Bonifati, V.1
Rohe, C.F.2
Breedveld, G.J.3
-
3
-
-
4444274910
-
PINK1 mutations are associated with sporadic early-onset parkinsonism
-
Valente EM, Salvi S, Ialongo T, et al. PINK1 mutations are associated with sporadic early-onset parkinsonism. Ann Neurol, 2004, 56:336-341.
-
(2004)
Ann Neurol
, vol.56
, pp. 336-341
-
-
Valente, E.M.1
Salvi, S.2
Ialongo, T.3
-
4
-
-
4444237208
-
Novel PINK1 mutations in early-onset parkinsonism
-
Hatano Y, Li Y, Sato K, et al. Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol, 2004, 56:424-427.
-
(2004)
Ann Neurol
, vol.56
, pp. 424-427
-
-
Hatano, Y.1
Li, Y.2
Sato, K.3
-
5
-
-
33745845523
-
PINK1 mutations in sporadic early-onset Parkinson's disease
-
Tan EK, Yew K, Chua E, et al. PINK1 mutations in sporadic early-onset Parkinson's disease. Mov Disord, 2006,21:789-793.
-
(2006)
Mov Disord
, vol.21
, pp. 789-793
-
-
Tan, E.K.1
Yew, K.2
Chua, E.3
-
6
-
-
30144445796
-
Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan
-
Fung HC, Chen CM, Hardy J, et al. Analysis of the PINK1 gene in a cohort of patients with sporadic early-onset parkinsonism in Taiwan. Neurosci Lett, 2006, 394:33-36.
-
(2006)
Neurosci Lett
, vol.394
, pp. 33-36
-
-
Fung, H.C.1
Chen, C.M.2
Hardy, J.3
-
7
-
-
33244482539
-
Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa
-
Ibanez P, Lesage S, Lohmann E, et al. Mutational analysis of the PINK1 gene in early-onset parkinsonism in Europe and North Africa. Brain, 2006, 129:686-694.
-
(2006)
Brain
, vol.129
, pp. 686-694
-
-
Ibanez, P.1
Lesage, S.2
Lohmann, E.3
-
8
-
-
21244445382
-
Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6
-
Zhang YH, Tang BS, Guo JF, et al. Mutation analysis of PINK1 gene in Chinese patients with autosomal recessive early-onset parkinsonism type 6. Natl Med J Chin, 2005, 85:1538-1541.
-
(2005)
Natl Med J Chin
, vol.85
, pp. 1538-1541
-
-
Zhang, Y.H.1
Tang, B.S.2
Guo, J.F.3
-
9
-
-
0026515731
-
Core assessment program for intracerebral transplantations (CAPIT)
-
Langston JW, Widner H, Goetz CG, et al. Core assessment program for intracerebral transplantations (CAPIT). Mov Disord, 1992,7:2-13.
-
(1992)
Mov Disord
, vol.7
, pp. 2-13
-
-
Langston, J.W.1
Widner, H.2
Goetz, C.G.3
-
10
-
-
0026629509
-
What features improve the accuracy of clinical diagnosis in Parkinson's disease: A clinico-pathological study
-
Hughes AJ, Ben-Shlomo Y, Daniel SE, et al. What features improve the accuracy of clinical diagnosis in Parkinson's disease: a clinico-pathological study. Neurology, 1992,42:1142-1146.
-
(1992)
Neurology
, vol.42
, pp. 1142-1146
-
-
Hughes, A.J.1
Ben-Shlomo, Y.2
Daniel, S.E.3
-
11
-
-
0034537609
-
High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC)
-
Wolford JK, Blunt D, Ballecer C, et al. High-throughput SNP detection by using DNA pooling and denaturing high performance liquid chromatography (DHPLC). Hum Genet, 2000,107:483-487.
-
(2000)
Hum Genet
, vol.107
, pp. 483-487
-
-
Wolford, J.K.1
Blunt, D.2
Ballecer, C.3
-
12
-
-
4844222408
-
alpha-Synuclein promoter confers susceptibility to Parkinson's disease
-
Pals P, Lincoln S, Manning J, et al. alpha-Synuclein promoter confers susceptibility to Parkinson's disease. Ann Neurol, 2004,56:591-595.
-
(2004)
Ann Neurol
, vol.56
, pp. 591-595
-
-
Pals, P.1
Lincoln, S.2
Manning, J.3
-
13
-
-
0037131567
-
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility
-
Liu Y, Fallon L, Lashuel HA, et al. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell, 2002, 111:209-218.
-
(2002)
Cell
, vol.111
, pp. 209-218
-
-
Liu, Y.1
Fallon, L.2
Lashuel, H.A.3
-
14
-
-
0037108727
-
Functional association of the parkin gene promoter with idiopathic Parkinson's disease
-
West AB, Maraganore D, Crook J, et al. Functional association of the parkin gene promoter with idiopathic Parkinson's disease. Hum Mol Genet, 2002,11:2787-2792.
-
(2002)
Hum Mol Genet
, vol.11
, pp. 2787-2792
-
-
West, A.B.1
Maraganore, D.2
Crook, J.3
-
15
-
-
0038754178
-
Parkin mutations and susceptibility alleles in late onset Parkinson's disease
-
Oliveira SA, Scott WK, Martin ER, et al. Parkin mutations and susceptibility alleles in late onset Parkinson's disease. Ann Neurol, 2003,53:624-629.
-
(2003)
Ann Neurol
, vol.53
, pp. 624-629
-
-
Oliveira, S.A.1
Scott, W.K.2
Martin, E.R.3
-
16
-
-
12244262766
-
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson's disease
-
Foroud T, Uniacke SK, Liu L, et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson's disease. Neurology, 2003,60: 796-801.
-
(2003)
Neurology
, vol.60
, pp. 796-801
-
-
Foroud, T.1
Uniacke, S.K.2
Liu, L.3
-
17
-
-
19944432921
-
A common LRRK2 mutation in idiopathic Parkinson's disease
-
Gilks WP, Abou-Sleiman PM, Gandhi S, et al. A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet, 2005,365:415-416.
-
(2005)
Lancet
, vol.365
, pp. 415-416
-
-
Gilks, W.P.1
Abou-Sleiman, P.M.2
Gandhi, S.3
-
18
-
-
0036544858
-
A new type of mutation causes a splicing defect in ATM
-
Pagani F, Buratti E, Stuani C, et al. A new type of mutation causes a splicing defect in ATM. Nat Genet, 2002, 30:426-429.
-
(2002)
Nat Genet
, vol.30
, pp. 426-429
-
-
Pagani, F.1
Buratti, E.2
Stuani, C.3
-
19
-
-
20444399801
-
The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease
-
Albanese A, Valente EM, Romito LM, et al. The PINK1 phenotype can be indistinguishable from idiopathic Parkinson disease. Neurology, 2005, 64:1958-1960.
-
(2005)
Neurology
, vol.64
, pp. 1958-1960
-
-
Albanese, A.1
Valente, E.M.2
Romito, L.M.3
-
20
-
-
0033966774
-
Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis typel
-
Ars E, Serra E, Garcia J, et al. Mutations affecting mRNA splicing are the most common molecular defects in patients with neurofibromatosis typel. Hum Mol Genet, 2000, 9:237-247.
-
(2000)
Hum Mol Genet
, vol.9
, pp. 237-247
-
-
Ars, E.1
Serra, E.2
Garcia, J.3
-
21
-
-
0036113829
-
A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts
-
Yamaguchi S, Shinmura K, Saitoh T, et al. A single nucleotide polymorphism at the splice donor site of the human MYH base excision repair genes results in reduced translation efficiency of its transcripts. Genes Cells, 2002,7:461-474.
-
(2002)
Genes Cells
, vol.7
, pp. 461-474
-
-
Yamaguchi, S.1
Shinmura, K.2
Saitoh, T.3
-
22
-
-
27944444154
-
Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism
-
Silvestri L, Caputo V, Bellacchio E, et al. Mitochondrial import and enzymatic activity of PINK1 mutants associated to recessive parkinsonism. Hum Mol Genet, 2005, 14:3477-3492.
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3477-3492
-
-
Silvestri, L.1
Caputo, V.2
Bellacchio, E.3
-
23
-
-
26644440926
-
Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson's disease-related mutations
-
Petit A, Kawarai T, Paitel E, et al. Wild-type PINK1 prevents basal and induced neuronal apoptosis, a protective effect abrogated by Parkinson's disease-related mutations. J Biol Chem, 2005, 280:34025-34032.
-
(2005)
J Biol Chem
, vol.280
, pp. 34025-34032
-
-
Petit, A.1
Kawarai, T.2
Paitel, E.3
-
24
-
-
0036830525
-
A susceptibility gene for late-onset idiopathic Parkinson's disease
-
Hicks AA, Petursson H, Jonsson T, et al. A susceptibility gene for late-onset idiopathic Parkinson's disease. Ann Neurol, 2002,52:549-555.
-
(2002)
Ann Neurol
, vol.52
, pp. 549-555
-
-
Hicks, A.A.1
Petursson, H.2
Jonsson, T.3
|