-
1
-
-
0035860983
-
Complete genomic screen in Parkinson disease: Evidence for multiple genes
-
Scott WK, Nance MA, Watts RL, et al. Complete genomic screen in Parkinson disease: evidence for multiple genes. JAMA 2001;286:2239-2244.
-
(2001)
JAMA
, vol.286
, pp. 2239-2244
-
-
Scott, W.K.1
Nance, M.A.2
Watts, R.L.3
-
2
-
-
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 KKK, 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 USA 2000;97:13354-13359.
-
(2000)
Proc Natl Acad Sci USA
, vol.97
, pp. 13354-13359
-
-
Zhang, Y.1
Gao, J.2
Chung, K.K.K.3
-
3
-
-
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
-
4
-
-
0345490853
-
A wide variety of mutations in the Parkin gene are responsible for autosomal recessive parkinsonism in Europe
-
Abbas N, Lucking CB, Ricard S, et al. A wide variety of mutations in the Parkin gene are responsible for autosomal recessive parkinsonism in Europe. Hum Mol Genet 1999;8:567-574.
-
(1999)
Hum Mol Genet
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lucking, C.B.2
Ricard, S.3
-
5
-
-
0000224448
-
Unified Parkinson's Disease rating scale
-
Fahn S, Marsden CD, Calne DB, et al., eds. Florham Park, NJ: Macmillan Health Care Information
-
Fahn S, Elton RL, Members of the UPDRS Development Committee. Unified Parkinson's Disease rating scale. In: Fahn S, Marsden CD, Calne DB, et al., eds. Recent developments in Parkinson's disease. Florham Park, NJ: Macmillan Health Care Information, 1987:153-164.
-
(1987)
Recent Developments in Parkinson's Disease
, pp. 153-164
-
-
Fahn, S.1
Elton, R.L.2
-
6
-
-
0035861048
-
Association of singlenucleotide polymorphisms of the tau gene with late-onset Parkinson disease
-
Martin ER, Scott WK, Nance MA, et al. Association of singlenucleotide polymorphisms of the tau gene with late-onset Parkinson disease. JAMA 2001;286:2245-2250.
-
(2001)
JAMA
, vol.286
, pp. 2245-2250
-
-
Martin, E.R.1
Scott, W.K.2
Nance, M.A.3
-
7
-
-
0001856573
-
Methods of genotyping
-
Haines JL, Pericak-Vance MA, eds. Approaches to gene mapping in complex human diseases. New York: Wiley-Liss
-
Vance JM, Ben Othmane K. Methods of genotyping. In: Haines JL, Pericak-Vance MA, eds. Approaches to gene mapping in complex human diseases. New York: Wiley-Liss, 1998:213-228.
-
(1998)
Approaches to Gene Mapping in Complex Human Diseases
, pp. 213-228
-
-
Vance, J.M.1
Ben Othmane, K.2
-
8
-
-
18244412384
-
Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence for variable homozygous deletions in the Parkin gene in affected individuals
-
Hattori N, Kitada T, Matsumine H, et al. Molecular genetic analysis of a novel Parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence for variable homozygous deletions in the Parkin gene in affected individuals. Ann Neurol 1998;44:935-941.
-
(1998)
Ann Neurol
, vol.44
, pp. 935-941
-
-
Hattori, N.1
Kitada, T.2
Matsumine, H.3
-
9
-
-
0032937416
-
Polymorphism in the parkin gene in sporadic Parkinson's disease
-
Wang M, Hattori N, Matsumine H, et al. Polymorphism in the parkin gene in sporadic Parkinson's disease. Ann Neurol 1999;45:655-658.
-
(1999)
Ann Neurol
, vol.45
, pp. 655-658
-
-
Wang, M.1
Hattori, N.2
Matsumine, H.3
-
10
-
-
0028986174
-
Fluorescencebased oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations
-
Eggerding FA, Iovannisci DM, Brinson E, et al. Fluorescencebased oligonucleotide ligation assay for analysis of cystic fibrosis transmembrane conductance regulator gene mutations. Hum Mutat 1995;5:153-165.
-
(1995)
Hum Mutat
, vol.5
, pp. 153-165
-
-
Eggerding, F.A.1
Iovannisci, D.M.2
Brinson, E.3
-
11
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores and marker-sharing statistics
-
Sobel E, Lange K. Descent graphs in pedigree analysis: applications to haplotyping, location scores and marker-sharing statistics. Am J Hum Genet 1996;58:1323-1337.
-
(1996)
Am J Hum Genet
, vol.58
, pp. 1323-1337
-
-
Sobel, E.1
Lange, K.2
-
12
-
-
0006547396
-
Parkin mutations and idiopathic Parkinson disease (PD)
-
Abstract
-
Scott WK, Rogala AR, Rampersaud E, et al. Parkin mutations and idiopathic Parkinson disease (PD). Am J Hum Genet 2000;67:19 (Abstract).
-
(2000)
Am J Hum Genet
, vol.67
, pp. 19
-
-
Scott, W.K.1
Rogala, A.R.2
Rampersaud, E.3
-
13
-
-
0342368772
-
Association between early-onset Parkinson's disease and mutations in the Parkin gene
-
Lucking CB, Durr A, Bonifati V, et al. Association between early-onset Parkinson's disease and mutations in the Parkin gene. 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
-
14
-
-
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
-
15
-
-
0035092090
-
Origin of the mutations in the parkin gene in Europe: Exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects
-
Periquet M, Lucking C, Vaughan J, et al. Origin of the mutations in the parkin gene in Europe: exon rearrangements are independent recurrent events, whereas point mutations may result from Founder effects. Am J Hum Genet 2001;68:617-626.
-
(2001)
Am J Hum Genet
, vol.68
, pp. 617-626
-
-
Periquet, M.1
Lucking, C.2
Vaughan, J.3
-
16
-
-
0035943061
-
The parkin gene is not involved in late-onset Parkinson's disease
-
Oliveri RL, Zappia M, Annesi G, et al. The parkin gene is not involved in late-onset Parkinson's disease. Neurology 2001;57:359-362.
-
(2001)
Neurology
, vol.57
, pp. 359-362
-
-
Oliveri, R.L.1
Zappia, M.2
Annesi, G.3
-
17
-
-
0037845428
-
Identification of multiple loci for Alzheimer disease in an inbred Israeli-Arab community
-
Abstract
-
Farrer LA, Bowirrat A, Friedland RP, et al. Identification of multiple loci for Alzheimer disease in an inbred Israeli-Arab community. Am J Hum Genet 2001;69(suppl):200 (Abstract).
-
(2001)
Am J Hum Genet
, vol.69
, Issue.SUPPL.
, pp. 200
-
-
Farrer, L.A.1
Bowirrat, A.2
Friedland, R.P.3
-
18
-
-
0036279143
-
Molecular findings in familial Parkinson disease in Spain
-
Hoenicka J, Vidal L, Morales B, et al. Molecular findings in familial Parkinson disease in Spain. Arch Neurol 2002;59:966-970.
-
(2002)
Arch Neurol
, vol.59
, pp. 966-970
-
-
Hoenicka, J.1
Vidal, L.2
Morales, B.3
-
19
-
-
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
-
20
-
-
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
-
21
-
-
0034326934
-
Does failure of parkin-mediated ubiquitination cause juvenile parkinsonism?
-
Kahle PJ, Leimer U, Haass C. Does failure of parkin-mediated ubiquitination cause juvenile parkinsonism? Trends Biochem Sci 2000;25:524-527.
-
(2000)
Trends Biochem Sci
, vol.25
, pp. 524-527
-
-
Kahle, P.J.1
Leimer, U.2
Haass, C.3
-
22
-
-
0033933048
-
Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase
-
Shimura H, Hattori N, Kubo S, et al. Familial Parkinson disease gene product, parkin, is a ubiquitin-protein ligase. Nat Genet 2000;25:302-305.
-
(2000)
Nat Genet
, vol.25
, pp. 302-305
-
-
Shimura, H.1
Hattori, N.2
Kubo, S.3
-
23
-
-
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
-
24
-
-
0032957883
-
Immunohistochemical and subcellular localization of Parkin protein: Absence of protein in autosomal recessive juvenile parkinsonism patients
-
Shimura H, Hattori N, Kubo S, et al. Immunohistochemical and subcellular localization of Parkin protein: absence of protein in autosomal recessive juvenile parkinsonism patients. Ann Neurol 1999;45:668-672.
-
(1999)
Ann Neurol
, vol.45
, pp. 668-672
-
-
Shimura, H.1
Hattori, N.2
Kubo, S.3
-
25
-
-
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
|