-
1
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, et al. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science. 1997;276:2045-2047.
-
(1997)
Science
, vol.276
, pp. 2045-2047
-
-
Polymeropoulos, M.H.1
Lavedan, C.2
Leroy, E.3
-
2
-
-
0242300619
-
Alpha-synuclein locus triplication causes Parkinson's disease
-
Singleton AB, Farrer M, Johnson J, et al. Alpha-synuclein locus triplication causes Parkinson's disease. Science. 2003;302:841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
-
3
-
-
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
-
4
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
Bonifati V, Rizzu P, van Baren MJ, et al. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science. 2003;299:256-259.
-
(2003)
Science
, vol.299
, pp. 256-259
-
-
Bonifati, V.1
Rizzu, P.2
Van Baren, M.J.3
-
5
-
-
0042232353
-
The role of pathogenic DJ-1 mutations in Parkinson's disease
-
Abou-Sleiman P, Healy D, Quinn N, et al. The role of pathogenic DJ-1 mutations in Parkinson's disease. Ann Neurol. 2003;54:238-286.
-
(2003)
Ann Neurol
, vol.54
, pp. 238-286
-
-
Abou-Sleiman, P.1
Healy, D.2
Quinn, N.3
-
6
-
-
0043204995
-
Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation
-
Hague S, Rogaeva E, Hernandez D, et al. Early-onset Parkinson's disease caused by a compound heterozygous DJ-1 mutation. Ann Neurol. 2003;54:271-274.
-
(2003)
Ann Neurol
, vol.54
, pp. 271-274
-
-
Hague, S.1
Rogaeva, E.2
Hernandez, D.3
-
7
-
-
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
-
8
-
-
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
-
9
-
-
4444375576
-
The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism
-
Healy DG, Abou-Sleiman PM, Ahmadi KR, et al. The gene responsible for PARK6 Parkinson's disease, PINK1, does not influence common forms of parkinsonism. Ann Neurol. 2004;56:329-335.
-
(2004)
Ann Neurol
, vol.56
, pp. 329-335
-
-
Healy, D.G.1
Abou-Sleiman, P.M.2
Ahmadi, K.R.3
-
10
-
-
4444269012
-
Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism
-
Rohe CF, Montagna P, Breedveld G, et al. Homozygous PINK1 C-terminus mutation causing early-onset parkinsonism. Ann Neurol. 2004;56:427-431.
-
(2004)
Ann Neurol
, vol.56
, pp. 427-431
-
-
Rohe, C.F.1
Montagna, P.2
Breedveld, G.3
-
11
-
-
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
-
12
-
-
0042767676
-
Parkinson's disease: Piecing together a genetic jigsaw
-
Dekker MC, Bonifati V, Van Duijn CM. Parkinson's disease: piecing together a genetic jigsaw. Brain. 2003;126(pt 8):1722-1733.
-
(2003)
Brain
, vol.126
, Issue.8 PART
, pp. 1722-1733
-
-
Dekker, M.C.1
Bonifati, V.2
Van Duijn, C.M.3
-
13
-
-
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
-
14
-
-
0037648357
-
Parkin mutations are frequent in patients with isolated early-onset parkinsonism
-
Periquet M, Latouche M, Lohmann E, et al. Parkin mutations are frequent in patients with isolated early-onset parkinsonism. Brain. 2003;126:1271-1278.
-
(2003)
Brain
, vol.126
, pp. 1271-1278
-
-
Periquet, M.1
Latouche, M.2
Lohmann, E.3
-
15
-
-
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
-
16
-
-
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
-
17
-
-
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
-
18
-
-
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;54:176-185.
-
(2003)
Ann Neurol
, vol.54
, pp. 176-185
-
-
Lohmann, E.1
Periquet, M.2
Bonifati, V.3
-
19
-
-
2442451698
-
Clinical findings in a large family with a parkin ex3delta40 mutation
-
Munhoz RP, Sa DS, Rogaeva E, et al. Clinical findings in a large family with a parkin ex3delta40 mutation. Arch Neurol. 2004;61:701-704.
-
(2004)
Arch Neurol
, vol.61
, pp. 701-704
-
-
Munhoz, R.P.1
Sa, D.S.2
Rogaeva, E.3
-
20
-
-
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
-
21
-
-
4344564818
-
Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations
-
Clark LN, Afridi S, Mejia-Santana H, et al. Analysis of an early-onset Parkinson's disease cohort for DJ-1 mutations. Mov Disord. 2004;19:796-800.
-
(2004)
Mov Disord
, vol.19
, pp. 796-800
-
-
Clark, L.N.1
Afridi, S.2
Mejia-Santana, H.3
-
22
-
-
14044262300
-
Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity
-
Clark LN, Nicolai A, Afridi S, et al. Pilot association study of the beta-glucocerebrosidase N370S allele and Parkinson's disease in subjects of Jewish ethnicity. Mov Disord. 2005;20:100-103.
-
(2005)
Mov Disord
, vol.20
, pp. 100-103
-
-
Clark, L.N.1
Nicolai, A.2
Afridi, S.3
-
23
-
-
0141535355
-
Familial aggregation of early- and late-onset Parkinson's disease
-
Marder K, Levy G, Louis ED, et al. Familial aggregation of early- and late-onset Parkinson's disease. Ann Neurol. 2003;54:507-513.
-
(2003)
Ann Neurol
, vol.54
, pp. 507-513
-
-
Marder, K.1
Levy, G.2
Louis, E.D.3
-
24
-
-
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
-
25
-
-
0032005478
-
Stroke incidence among white, black, and Hispanic residents of an urban community: The Northern Manhattan Stroke Study
-
Sacco RL, Boden-Albala B, Gan R, et al. Stroke incidence among white, black, and Hispanic residents of an urban community: the Northern Manhattan Stroke Study. Am J Epidemiol. 1998;147:259-268.
-
(1998)
Am J Epidemiol
, vol.147
, pp. 259-268
-
-
Sacco, R.L.1
Boden-Albala, B.2
Gan, R.3
-
27
-
-
0001543717
-
Modified Mini-Mental State Examination: Validity and reliability
-
Stern Y, Sano M, Paulson JRM. Modified Mini-Mental State Examination: validity and reliability. Neurology. 1987;37(suppl 1):179.
-
(1987)
Neurology
, vol.37
, Issue.1 SUPPL.
, pp. 179
-
-
Stern, Y.1
Sano, M.2
Paulson, J.R.M.3
-
28
-
-
10744222014
-
Accuracy of family history data on Parkinson's disease
-
Marder K, Levy G, Louis ED, et al. Accuracy of family history data on Parkinson's disease. Neurology. 2003;61:18-23.
-
(2003)
Neurology
, vol.61
, pp. 18-23
-
-
Marder, K.1
Levy, G.2
Louis, E.D.3
-
29
-
-
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
-
30
-
-
3242703258
-
Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor
-
Pigullo S, De Luca A, Barone P, et al. Mutational analysis of parkin gene by denaturing high-performance liquid chromatography (DHPLC) in essential tremor. Parkinsonism Relat Disord. 2004;10:357-362.
-
(2004)
Parkinsonism Relat Disord
, vol.10
, pp. 357-362
-
-
Pigullo, S.1
De Luca, A.2
Barone, P.3
-
31
-
-
0037208848
-
Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene
-
Lucking CB, Brice A. Semiquantitative PCR for the detection of exon rearrangements in the Parkin gene. Methods Mol Biol. 2003;217:13-26.
-
(2003)
Methods Mol Biol
, vol.217
, pp. 13-26
-
-
Lucking, C.B.1
Brice, A.2
-
32
-
-
27444439477
-
Parkin mutation analysis in clinic patients with early-onset Parkinson's disease
-
Poorkaj P, Nutt JG, James D, et al. Parkin mutation analysis in clinic patients with early-onset Parkinson's disease. Am J Med Genet A. 2005;139A:56.
-
(2005)
Am J Med Genet A
, vol.139 A
, pp. 56
-
-
Poorkaj, P.1
Nutt, J.G.2
James, D.3
-
33
-
-
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
-
34
-
-
0345490853
-
A wide variety of mutations in the parkin gene are responsible for autosomal recessive parkinsonism in Europe: French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease
-
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: French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. 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
-
35
-
-
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
-
36
-
-
10744226640
-
DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease
-
Hedrich K, Djarmati A, Schafer N, et al. DJ-1 (PARK7) mutations are less frequent than Parkin (PARK2) mutations in early-onset Parkinson disease. Neurology. 2004;62:389-394.
-
(2004)
Neurology
, vol.62
, pp. 389-394
-
-
Hedrich, K.1
Djarmati, A.2
Schafer, N.3
-
37
-
-
20344372905
-
Novel parkin mutations detected in patients with early-onset Parkinson's disease
-
Bertoli-Avella AM, Giroud-Benitez JL, Akyol A, et al. Novel parkin mutations detected in patients with early-onset Parkinson's disease. Mov Disord. 2005;20:424-431.
-
(2005)
Mov Disord
, vol.20
, pp. 424-431
-
-
Bertoli-Avella, A.M.1
Giroud-Benitez, J.L.2
Akyol, A.3
-
38
-
-
26444571889
-
Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease?
-
Hedrich K, Pramstaller PP, Stubke K, et al. Premutations in the FMR1 gene as a modifying factor in Parkin-associated Parkinson's disease? Mov Disord. 2005;20:1060-1062.
-
(2005)
Mov Disord
, vol.20
, pp. 1060-1062
-
-
Hedrich, K.1
Pramstaller, P.P.2
Stubke, K.3
-
39
-
-
20344400149
-
Parkin disease in a Brazilian kindred: Manifesting heterozygotes and clinical follow-up over 10 years
-
Khan NL, Horta W, Eunson L, et al. Parkin disease in a Brazilian kindred: manifesting heterozygotes and clinical follow-up over 10 years. Mov Disord. 2005;20:479-484.
-
(2005)
Mov Disord
, vol.20
, pp. 479-484
-
-
Khan, N.L.1
Horta, W.2
Eunson, L.3
-
40
-
-
12144254582
-
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
-
Wu RM, Bounds R, Lincoln S, et al. Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol. 2005;62:82-87.
-
(2005)
Arch Neurol
, vol.62
, pp. 82-87
-
-
Wu, R.M.1
Bounds, R.2
Lincoln, S.3
-
41
-
-
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
|