-
1
-
-
7244261867
-
Distribution, type, and origin of Parkin mutations: Review and case studies
-
Hedrich K, Eskelson C, Wilmot B, et al. Distribution, type, and origin of Parkin mutations: review and case studies. Mov Disord 2004;19:1146-1157.
-
(2004)
Mov Disord
, vol.19
, pp. 1146-1157
-
-
Hedrich, K.1
Eskelson, C.2
Wilmot, B.3
-
2
-
-
0342368772
-
Association between early-onset Parkinson's disease and mutations in the parkin gene
-
French Parkinson's Disease Genetics Study Group
-
Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the parkin gene. French Parkinson's Disease Genetics Study Group. N Engl J Med 2000;342:1560-1567.
-
(2000)
N Engl J Med
, vol.342
, pp. 1560-1567
-
-
Lucking, C.B.1
Durr, A.2
Bonifati, V.3
-
3
-
-
0036229267
-
Role of parkin mutations in 111 community-based patients with early-onset parkinsonism
-
Kann M, Jacobs H, Mohrmann K, et al. Role of parkin mutations in 111 community-based patients with early-onset parkinsonism. Ann Neurol 2002;51:621-625.
-
(2002)
Ann Neurol
, vol.51
, pp. 621-625
-
-
Kann, M.1
Jacobs, H.2
Mohrmann, K.3
-
4
-
-
0042415580
-
How much phenotypic variation can be attributed to parkin genotype?
-
Lohmann E, Periquet M, Bonifati V, et al. How much phenotypic variation can be attributed to parkin genotype? Ann Neurol 2003;4:176-185.
-
(2003)
Ann Neurol
, vol.4
, pp. 176-185
-
-
Lohmann, E.1
Periquet, M.2
Bonifati, V.3
-
5
-
-
0035421416
-
The importance of gene dosage studies: Mutational analysis of the parkin gene in early-onset parkinsonism
-
Hedrich K, Kann M, Lanthaler AJ, et al. The importance of gene dosage studies: mutational analysis of the parkin gene in early-onset parkinsonism. Hum Mol Genet 2001;10:1649-1656.
-
(2001)
Hum Mol Genet
, vol.10
, pp. 1649-1656
-
-
Hedrich, K.1
Kann, M.2
Lanthaler, A.J.3
-
6
-
-
0033933192
-
Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: Expanding the phenotype
-
Klein C, Pramstaller PP, Kis B, et al. Parkin deletions in a family with adult-onset, tremor-dominant parkinsonism: expanding the phenotype. Ann Neurol 2000;48:65-71.
-
(2000)
Ann Neurol
, vol.48
, pp. 65-71
-
-
Klein, C.1
Pramstaller, P.P.2
Kis, B.3
-
7
-
-
0034848395
-
Lewy bodies and parkinsonism in families with parkin mutations
-
Farrer M, Chan P, Chen R, et al. Lewy bodies and parkinsonism in families with parkin mutations. Ann Neurol 2001;50: 293-300.
-
(2001)
Ann Neurol
, vol.50
, pp. 293-300
-
-
Farrer, M.1
Chan, P.2
Chen, R.3
-
8
-
-
4143125488
-
Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions
-
Sasaki S, Shirata A, Yamane K, et al. Parkin-positive autosomal recessive juvenile parkinsonism with alpha-synuclein-positive inclusions. Neurology 2004;63:678-682.
-
(2004)
Neurology
, vol.63
, pp. 678-682
-
-
Sasaki, S.1
Shirata, A.2
Yamane, K.3
-
9
-
-
0037161261
-
Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations
-
Hedrich K, Marder K, Harris J, et al. Evaluation of 50 probands with early-onset Parkinson's disease for Parkin mutations. Neurology 2002;58:1239-1246.
-
(2002)
Neurology
, vol.58
, pp. 1239-1246
-
-
Hedrich, K.1
Marder, K.2
Harris, J.3
-
10
-
-
0037134095
-
The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: Evidence for enzymatic parkin function in humans
-
Hilker R, Klein C, Hedrich K, et al. The striatal dopaminergic deficit is dependent on the number of mutant alleles in a family with mutations in the parkin gene: evidence for enzymatic parkin function in humans. Neurosci Lett 2002;323: 50-54.
-
(2002)
Neurosci Lett
, vol.323
, pp. 50-54
-
-
Hilker, R.1
Klein, C.2
Hedrich, K.3
-
11
-
-
18444398035
-
Complex relationship between Parkin mutations and Parkinson disease
-
West A, Periquet M, Lincoln S, et al. Complex relationship between Parkin mutations and Parkinson disease. Am J Med Genet 2002;114:584-591.
-
(2002)
Am J Med Genet
, vol.114
, pp. 584-591
-
-
West, A.1
Periquet, M.2
Lincoln, S.3
-
12
-
-
12244262766
-
Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease
-
Foroud T, Uniacke SK, Liu L, et al. Heterozygosity for a mutation in the parkin gene leads to later onset Parkinson disease. Neurology 2003;60:796-801.
-
(2003)
Neurology
, vol.60
, pp. 796-801
-
-
Foroud, T.1
Uniacke, S.K.2
Liu, L.3
-
13
-
-
0035096967
-
Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene
-
Hilker R, Klein C, Ghaemi M, et al. Positron emission tomographic analysis of the nigrostriatal dopaminergic system in familial parkinsonism associated with mutations in the parkin gene. Ann Neurol 2001;49:367-376.
-
(2001)
Ann Neurol
, vol.49
, pp. 367-376
-
-
Hilker, R.1
Klein, C.2
Ghaemi, M.3
-
14
-
-
4644278845
-
Brain parenchyma sonography detects preclinical parkinsonism
-
Walter U, Klein C, Hilker R, et al. Brain parenchyma sonography detects preclinical parkinsonism. Mov Disord 2004;19: 1445-1449.
-
(2004)
Mov Disord
, vol.19
, pp. 1445-1449
-
-
Walter, U.1
Klein, C.2
Hilker, R.3
-
15
-
-
0023784368
-
A comparison of clinical and pathological features of young- and old-onset Parkinson's disease
-
Gibb WR, Lees AJ. A comparison of clinical and pathological features of young- and old-onset Parkinson's disease. Neurology 1988;38:1402-1406.
-
(1988)
Neurology
, vol.38
, pp. 1402-1406
-
-
Gibb, W.R.1
Lees, A.J.2
-
16
-
-
0035515087
-
Parkinsonism: Onset, progression, and mortality. 1967
-
Hoehn MM, Yahr MD. Parkinsonism: onset, progression, and mortality. 1967. Neurology 2001;57:S11-S26.
-
(2001)
Neurology
, vol.57
-
-
Hoehn, M.M.1
Yahr, M.D.2
-
17
-
-
0000224448
-
Recent developments in Parkinson's disease
-
Fahn S, Goldstein M, Calne DB, et al, eds. Florham Park, NJ: MacMillan Healthcare Information
-
Fahn S, Elton RL, and Members of the UPDRS Development Committee. Recent developments in Parkinson's disease. In: Fahn S, Goldstein M, Calne DB, et al, eds. Recent developments in Parkinson's disease. Vol 2. Florham Park, NJ: MacMillan Healthcare Information, 1987:205-211.
-
(1987)
Recent Developments in Parkinson's Disease
, vol.2
, pp. 205-211
-
-
Fahn, S.1
Elton, R.L.2
-
18
-
-
0036095285
-
Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies
-
Schlossmacher MG, Frosch MP, Gai WP, et al. Parkin localizes to the Lewy bodies of Parkinson disease and dementia with Lewy bodies. Am J Pathol 2002;160:1655-1667.
-
(2002)
Am J Pathol
, vol.160
, pp. 1655-1667
-
-
Schlossmacher, M.G.1
Frosch, M.P.2
Gai, W.P.3
-
19
-
-
24644462543
-
Parkinson's disease-assays for the ubiquitin ligase activity of neural parkin
-
Patterson C, Cyr DM, eds. Totawa, NJ: Humana Press
-
Schlossmacher MG, Shimura H. Parkinson's disease-assays for the ubiquitin ligase activity of neural parkin. In: Patterson C, Cyr DM, eds. Methods in molecular biology: ubiquitin-proteasome protocols. Totawa, NJ: Humana Press, 2005:315-369.
-
(2005)
Methods in Molecular Biology: Ubiquitin-proteasome Protocols
, pp. 315-369
-
-
Schlossmacher, M.G.1
Shimura, H.2
-
20
-
-
10744224951
-
Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age
-
Pawlyk AC, Giasson BI, Sampathu DM, et al. Novel monoclonal antibodies demonstrate biochemical variation of brain parkin with age. J Biol Chem 2003;278:48120-48128.
-
(2003)
J Biol Chem
, vol.278
, pp. 48120-48128
-
-
Pawlyk, A.C.1
Giasson, B.I.2
Sampathu, D.M.3
-
21
-
-
33845382806
-
Nonparametric estimation from incomplete observations
-
Kaplan EL, Meier P. Nonparametric estimation from incomplete observations. J Am Stat Assoc 1958;53:457-481.
-
(1958)
J Am Stat Assoc
, vol.53
, pp. 457-481
-
-
Kaplan, E.L.1
Meier, P.2
-
23
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, et al. Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature 1998;392:605-608.
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kitada, T.1
Asakawa, S.2
Hattori, N.3
-
24
-
-
24644448584
-
Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition
-
May 12 epub
-
Bandopadhyay R, Kingsbury AE, Muqit MM, et al. Synphilin-1 and parkin show overlapping expression patterns in human brain and form aggresomes in response to proteasomal inhibition. Neurobiol Dis 2005; May 12 epub.
-
(2005)
Neurobiol Dis
-
-
Bandopadhyay, R.1
Kingsbury, A.E.2
Muqit, M.M.3
-
25
-
-
0026511969
-
The natural history of Parkinson's disease in the pre-levodopa and post-levodopa eras
-
Hoehn MM. The natural history of Parkinson's disease in the pre-levodopa and post-levodopa eras. Neurol Clin 1992;10: 331-339.
-
(1992)
Neurol Clin
, vol.10
, pp. 331-339
-
-
Hoehn, M.M.1
-
26
-
-
0015590978
-
Paralysis agitans of early onset with marked diurnal fluctuation of symptoms
-
Yamamura Y, Sobue I, Ando K, et al. Paralysis agitans of early onset with marked diurnal fluctuation of symptoms. Neurology 1973;23:239-244.
-
(1973)
Neurology
, vol.23
, pp. 239-244
-
-
Yamamura, Y.1
Sobue, I.2
Ando, K.3
-
28
-
-
0032231463
-
Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: Detailed genetic mapping of the linked region
-
Jones AC, Yamamura Y, Almasy L, et al. Autosomal recessive juvenile parkinsonism maps to 6q25.2-q27 in four ethnic groups: detailed genetic mapping of the linked region. Am J Hum Genet 1998;63:80-87.
-
(1998)
Am J Hum Genet
, vol.63
, pp. 80-87
-
-
Jones, A.C.1
Yamamura, Y.2
Almasy, L.3
-
29
-
-
0031721141
-
Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q
-
Mon H, Kondo T, Yokochi M, et al. Pathologic and biochemical studies of juvenile parkinsonism linked to chromosome 6q. Neurology 1998;51:890-892.
-
(1998)
Neurology
, vol.51
, pp. 890-892
-
-
Mon, H.1
Kondo, T.2
Yokochi, M.3
-
30
-
-
0033814671
-
An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene
-
Hayashi S, Wakabayashi K, Ishikawa A, et al. An autopsy case of autosomal-recessive juvenile parkinsonism with a homozygous exon 4 deletion in the parkin gene. Mov Disord 2000;15:884-888.
-
(2000)
Mov Disord
, vol.15
, pp. 884-888
-
-
Hayashi, S.1
Wakabayashi, K.2
Ishikawa, A.3
-
31
-
-
0035957112
-
Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations
-
van de Warrenburg BP, Lammens M, Lucking CB, et al. Clinical and pathologic abnormalities in a family with parkinsonism and parkin gene mutations. Neurology 2001;56:555-557.
-
(2001)
Neurology
, vol.56
, pp. 555-557
-
-
Van De Warrenburg, B.P.1
Lammens, M.2
Lucking, C.B.3
-
32
-
-
0036868476
-
Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein
-
Morales B, Martinez A, Gonzalo I, et al. Steele-Richardson-Olszewski syndrome in a patient with a single C212Y mutation in the parkin protein. Mov Disord 2002;17:1374-1380.
-
(2002)
Mov Disord
, vol.17
, pp. 1374-1380
-
-
Morales, B.1
Martinez, A.2
Gonzalo, I.3
-
33
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
Zimprich A, Biskup S, Leitner P, et al. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 2004;44:601-607.
-
(2004)
Neuron
, vol.44
, pp. 601-607
-
-
Zimprich, A.1
Biskup, S.2
Leitner, P.3
-
34
-
-
0034776095
-
Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: Implications for Lewy-body formation in Parkinson disease
-
Chung KK, Zhang Y, Lim KL, et al. Parkin ubiquitinates the alpha-synuclein-interacting protein, synphilin-1: implications for Lewy-body formation in Parkinson disease. Nat Med 2001; 7:1144-1150.
-
(2001)
Nat Med
, vol.7
, pp. 1144-1150
-
-
Chung, K.K.1
Zhang, Y.2
Lim, K.L.3
-
35
-
-
0034700158
-
Parkin functions as an E2-dependent ubiquitin- Protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1
-
Zhang Y, Gao J, Chung KK, et al. Parkin functions as an E2-dependent ubiquitin- protein ligase and promotes the degradation of the synaptic vesicle-associated protein, CDCrel-1. Proc Natl Acad Sci U S A 2000;97:13354-13359.
-
(2000)
Proc Natl Acad Sci U S A
, vol.97
, pp. 13354-13359
-
-
Zhang, Y.1
Gao, J.2
Chung, K.K.3
-
36
-
-
3142762939
-
Genomic portraits of the nervous system in health and disease
-
D'Agata V, Cavallaro S. Genomic portraits of the nervous system in health and disease. Neurochem Res 2004;29:1201-1212.
-
(2004)
Neurochem Res
, vol.29
, pp. 1201-1212
-
-
D'Agata, V.1
Cavallaro, S.2
-
37
-
-
10644281090
-
Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease
-
Lo Bianco C, Schneider BL, Bauer M, et al. Lentiviral vector delivery of parkin prevents dopaminergic degeneration in an alpha-synuclein rat model of Parkinson's disease. Proc Natl Acad Sci U S A 2004;101:17510-17515.
-
(2004)
Proc Natl Acad Sci U S A
, vol.101
, pp. 17510-17515
-
-
Lo Bianco, C.1
Schneider, B.L.2
Bauer, M.3
-
38
-
-
0344011981
-
RING finger 1 mutations in Parkin produce altered localization of the protein
-
Cookson MR, Lockhart PJ, McLendon C, et al. RING finger 1 mutations in Parkin produce altered localization of the protein. Hum Mol Genet 2003;12:2957-2965.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2957-2965
-
-
Cookson, M.R.1
Lockhart, P.J.2
McLendon, C.3
-
39
-
-
0141891953
-
Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons
-
Goldberg MS, Fleming SM, Palacino JJ, et al. Parkin-deficient mice exhibit nigrostriatal deficits but not loss of dopaminergic neurons. J Biol Chem 2003;278:43628-43635.
-
(2003)
J Biol Chem
, vol.278
, pp. 43628-43635
-
-
Goldberg, M.S.1
Fleming, S.M.2
Palacino, J.J.3
-
40
-
-
2442481789
-
Mitochondrial dysfunction and oxidative damage in parkin-deficient mice
-
Palacino JJ, Sagi D, Goldberg MS, et al. Mitochondrial dysfunction and oxidative damage in parkin-deficient mice. J Biol Chem 2004;279:18614-18622.
-
(2004)
J Biol Chem
, vol.279
, pp. 18614-18622
-
-
Palacino, J.J.1
Sagi, D.2
Goldberg, M.S.3
-
41
-
-
17844406856
-
Alpha-synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease
-
Chen L, Feany MB. alpha-Synuclein phosphorylation controls neurotoxicity and inclusion formation in a Drosophila model of Parkinson disease. Nat Neurosci 2005;8:657-663.
-
(2005)
Nat Neurosci
, vol.8
, pp. 657-663
-
-
Chen, L.1
Feany, M.B.2
-
42
-
-
0038662544
-
Parkin disease: A phenotypic study of a large case series
-
Khan NL, Graham E, Critchley P, et al. Parkin disease: a phenotypic study of a large case series. Brain 2003;126: 1279-1292.
-
(2003)
Brain
, vol.126
, pp. 1279-1292
-
-
Khan, N.L.1
Graham, E.2
Critchley, P.3
-
43
-
-
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
-
44
-
-
0031013848
-
Prevalence of parkinsonism and Parkinson's disease in Europe: The EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease
-
de Rijk MC, Tzourio C, Breteler MM, et al. Prevalence of parkinsonism and Parkinson's disease in Europe: the EUROPARKINSON Collaborative Study. European Community Concerted Action on the Epidemiology of Parkinson's disease. J Neurol Neurosurg Psychiatry 1997;62:10-15.
-
(1997)
J Neurol Neurosurg Psychiatry
, vol.62
, pp. 10-15
-
-
De Rijk, M.C.1
Tzourio, C.2
Breteler, M.M.3
-
45
-
-
1342347411
-
Parkin variants in North American Parkinson's disease: Cases and controls
-
Lincoln SJ, Maraganore DM, Lesnick TG, et al. Parkin variants in North American Parkinson's disease: cases and controls. Mov Disord 2003;18:1306-1311.
-
(2003)
Mov Disord
, vol.18
, pp. 1306-1311
-
-
Lincoln, S.J.1
Maraganore, D.M.2
Lesnick, T.G.3
-
46
-
-
10744223494
-
Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families
-
Pankratz N, Nichols WC, Uniacke SK, et al. Genome-wide linkage analysis and evidence of gene-by-gene interactions in a sample of 362 multiplex Parkinson disease families. Hum Mol Genet 2003;12:2599-2608.
-
(2003)
Hum Mol Genet
, vol.12
, pp. 2599-2608
-
-
Pankratz, N.1
Nichols, W.C.2
Uniacke, S.K.3
-
47
-
-
0034718422
-
[18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations
-
Broussolle E, Lucking CB, Ginovart N, et al. [18 F]-dopa PET study in patients with juvenile-onset PD and parkin gene mutations. Neurology 2000;55:877-879.
-
(2000)
Neurology
, vol.55
, pp. 877-879
-
-
Broussolle, E.1
Lucking, C.B.2
Ginovart, N.3
-
48
-
-
0036787533
-
Progression of nigrostriatal dysfunction in a parkin kindred: An [18F]dopa PET and clinical study
-
Khan NL, Brooks DJ, Pavese N, et al. Progression of nigrostriatal dysfunction in a parkin kindred: an [18F]dopa PET and clinical study. Brain 2002;125:2248-2256.
-
(2002)
Brain
, vol.125
, pp. 2248-2256
-
-
Khan, N.L.1
Brooks, D.J.2
Pavese, N.3
|