-
2
-
-
0032543684
-
Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17
-
Hutton M, Lendon CL, Rizzu P, Baker M, Froelich S, Houlden H, Pickering-Brown S, Chakraverty S, Isaacs A and Grover A et al.: Association of missense and 5′-splice-site mutations in tau with the inherited dementia FTDP-17. Nature 1998, 393:702-705.
-
(1998)
Nature
, vol.393
, pp. 702-705
-
-
Hutton, M.1
Lendon, C.L.2
Rizzu, P.3
Baker, M.4
Froelich, S.5
Houlden, H.6
Pickering-Brown, S.7
Chakraverty, S.8
Isaacs, A.9
Grover, A.10
-
3
-
-
0028151448
-
Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene
-
Ichinose H, Ohye T, Takahashi E, Seki N, Hori T, Segawa M, Nomura Y, Endo K, Tanaka H and Tsuji S et al.: Hereditary progressive dystonia with marked diurnal fluctuation caused by mutations in the GTP cyclohydrolase I gene. Nat Genet 1994, 8:236-242.
-
(1994)
Nat. Genet.
, vol.8
, pp. 236-242
-
-
Ichinose, H.1
Ohye, T.2
Takahashi, E.3
Seki, N.4
Hori, T.5
Segawa, M.6
Nomura, Y.7
Endo, K.8
Tanaka, H.9
Tsuji, S.10
-
4
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos MH, Lavedan C, Leroy E, Ide SE, Dehejia A, Dutra A, Pike B, Root H, Rubenstein J and Boyer R 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
Ide, S.E.4
Dehejia, A.5
Dutra, A.6
Pike, B.7
Root, H.8
Rubenstein, J.9
Boyer, R.10
-
5
-
-
0032499264
-
Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism
-
Kitada T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minoshima S, Yokochi M, Mizuno Y and Shimizu N: 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
Matsumine, H.4
Yamamura, Y.5
Minoshima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
6
-
-
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, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P and Wood NW 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
Vaughan, J.4
De Michele, G.5
Gasser, T.6
Harhangi, B.S.7
Meco, G.8
Denefle, P.9
Wood, N.W.10
-
7
-
-
0032190090
-
The ubiquitin pathway in Parkinson's disease
-
Leroy E, Boyer R, Auburger G, Leube B, Ulm G, Mezey E, Harta G, Brownstein MJ, Jonnalagada S and Chernova T et al.: The ubiquitin pathway in Parkinson's disease. Nature 1998, 395:451-452.
-
(1998)
Nature
, vol.395
, pp. 451-452
-
-
Leroy, E.1
Boyer, R.2
Auburger, G.3
Leube, B.4
Ulm, G.5
Mezey, E.6
Harta, G.7
Brownstein, M.J.8
Jonnalagada, S.9
Chernova, T.10
-
8
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive earlyonset parkinsonism
-
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MC, Squitieri F, Ibanez P and Joosse M et al.: Mutations in the DJ-1 gene associated with autosomal recessive earlyonset parkinsonism. Science 2003, 299:256-259.
-
(2003)
Science
, vol.299
, 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.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
-
9
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser T, Muller-Myhsok B, Wszolek ZK, Oehlmann R, Calne DB, Bonifati V, Bereznai B, Fabrizio E, Vieregge P and Horstmann RD: A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat Genet 1998, 18:262-265.
-
(1998)
Nat. Genet.
, vol.18
, pp. 262-265
-
-
Gasser, T.1
Muller-Myhsok, B.2
Wszolek, Z.K.3
Oehlmann, R.4
Calne, D.B.5
Bonifati, V.6
Bereznai, B.7
Fabrizio, E.8
Vieregge, P.9
Horstmann, R.D.10
-
10
-
-
0032911910
-
A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor
-
Farrer M, Gwinn-Hardy K, Muenter M, DeVrieze FW, Crook R, Perez-Tur J, Lincoln S, Maraganore D, Adler C and Newman S et al.: A chromosome 4p haplotype segregating with Parkinson's disease and postural tremor. Hum Mol Genet 1999, 8:81-85.
-
(1999)
Hum. Mol. Genet.
, vol.8
, pp. 81-85
-
-
Farrer, M.1
Gwinn-Hardy, K.2
Muenter, M.3
DeVrieze, F.W.4
Crook, R.5
Perez-Tur, J.6
Lincoln, S.7
Maraganore, D.8
Adler, C.9
Newman, S.10
-
11
-
-
0035068574
-
Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36
-
Valente EM, Bentivoglio AR, Dixon PH, Ferraris A, Ialongo T, Frontali M, Albanese A and Wood NW: Localization of a novel locus for autosomal recessive early-onset parkinsonism, PARK6, on human chromosome 1p35-p36. Am J Hum Genet 2001, 68:895-900.
-
(2001)
Am. J. Hum. Genet.
, vol.68
, pp. 895-900
-
-
Valente, E.M.1
Bentivoglio, A.R.2
Dixon, P.H.3
Ferraris, A.4
Ialongo, T.5
Frontali, M.6
Albanese, A.7
Wood, N.W.8
-
12
-
-
0036830525
-
A susceptibility gene for late-onset idiopathic Parkinson's disease
-
Hicks AA, Petursson H, Jonsson T, Stefansson H, Johannsdottir HS, Sainz J, Frigge ML, Kong A, Gulcher JR and Stefansson K 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
Stefansson, H.4
Johannsdottir, H.S.5
Sainz, J.6
Frigge, M.L.7
Kong, A.8
Gulcher, J.R.9
Stefansson, K.10
-
13
-
-
0036196860
-
A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1
-
Funayama M, Hasegawa K, Kowa H, Saito M, Tsuji S and Obata F: A new locus for Parkinson's disease (PARK8) maps to chromosome 12p11.2-q13.1. Ann Neurol 2002, 51:296-301.
-
(2002)
Ann. Neurol.
, vol.51
, pp. 296-301
-
-
Funayama, M.1
Hasegawa, K.2
Kowa, H.3
Saito, M.4
Tsuji, S.5
Obata, F.6
-
14
-
-
0345701479
-
Significant linkage of Parkinson disease to chromosome 2q36-37
-
Pankratz N, Nichols WC, Uniacke SK, Halter C, Rudolph A, Shults C, Conneally PM and Foroud T: Significant linkage of Parkinson disease to chromosome 2q36-37. Am J Hum Genet 2003, 72:1053-1057.
-
(2003)
Am. J. Hum. Genet.
, vol.72
, pp. 1053-1057
-
-
Pankratz, N.1
Nichols, W.C.2
Uniacke, S.K.3
Halter, C.4
Rudolph, A.5
Shults, C.6
Conneally, P.M.7
Foroud, T.8
-
15
-
-
0032477559
-
Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease
-
Zareparsi S, Kaye J, Camicioli R, Kramer P, Nutt J, Bird T, Litt M, Payami H and Kay J: Analysis of the alpha-synuclein G209A mutation in familial Parkinson's disease. Lancet 1998, 351:37-38.
-
(1998)
Lancet
, vol.351
, pp. 37-38
-
-
Zareparsi, S.1
Kaye, J.2
Camicioli, R.3
Kramer, P.4
Nutt, J.5
Bird, T.6
Litt, M.7
Payami, H.8
Kay, J.9
-
16
-
-
0032863256
-
Exclusion of dominant mutations within the FTDP-17 locus on chromosome 17 for Parkinson's disease
-
Zareparsi S, Wirdefeldt K, Burgess CE, Nutt J, Kramer P, Schalling M and Payami H: Exclusion of dominant mutations within the FTDP-17 locus on chromosome 17 for Parkinson's disease. Neurosci Lett 1999, 272:140-142.
-
(1999)
Neurosci. Lett.
, vol.272
, pp. 140-142
-
-
Zareparsi, S.1
Wirdefeldt, K.2
Burgess, C.E.3
Nutt, J.4
Kramer, P.5
Schalling, M.6
Payami, H.7
-
17
-
-
0035239020
-
Brain-derived neurotrophic factor in the control human brain, and in Alzheimer's disease and Parkinson's disease
-
Murer MG, Yan Q and Raisman-Vozari R: Brain-derived neurotrophic factor in the control human brain, and in Alzheimer's disease and Parkinson's disease. Prog Neurobiol 2001, 63:71-124.
-
(2001)
Prog Neurobiol
, vol.63
, pp. 71-124
-
-
Murer, M.G.1
Yan, Q.2
Raisman-Vozari, R.3
-
18
-
-
0033563301
-
Other neurotrophic factors: Glial cell line-derived neurotrophic factor (GDNF)
-
Saarma M and Sariola H: Other neurotrophic factors: glial cell line-derived neurotrophic factor (GDNF). Microsc Res Tech 1999, 45:292-302.
-
(1999)
Microsc. Res. Tech.
, vol.45
, pp. 292-302
-
-
Saarma, M.1
Sariola, H.2
-
19
-
-
0028276809
-
Implanted fibroblasts genetically engineered to produce brain-derived neurotrophic factor prevent 1-methyl-4-phenylpyridinium toxicity to dopaminergic neurons in the rat
-
Frim DM, Uhler TA, Galpern WR, Beal MF, Breakefield XO and Isacson O: Implanted fibroblasts genetically engineered to produce brain-derived neurotrophic factor prevent 1-methyl-4-phenylpyridinium toxicity to dopaminergic neurons in the rat. Proc Natl Acad Sci U S A 1994, 91:5104-5108.
-
(1994)
Proc. Natl. Acad. Sci. U. S. A.
, vol.91
, pp. 5104-5108
-
-
Frim, D.M.1
Uhler, T.A.2
Galpern, W.R.3
Beal, M.F.4
Breakefield, X.O.5
Isacson, O.6
-
20
-
-
0031019795
-
Dopaminergic neurons protected from degeneration by GDNF gene therapy
-
Choi-Lundberg DL, Lin Q, Chang YN, Chiang YL, Hay CM, Mohajeri H, Davidson BL and Bohn MC: Dopaminergic neurons protected from degeneration by GDNF gene therapy. Science 1997, 275:838-841.
-
(1997)
Science
, vol.275
, pp. 838-841
-
-
Choi-Lundberg, D.L.1
Lin, Q.2
Chang, Y.N.3
Chiang, T.Y.L.4
Hay, C.M.5
Mohajeri, H.6
Davidson, B.L.7
Bohn, M.C.8
-
21
-
-
15844418441
-
Characterization of a multicomponent receptor for GDNF
-
Treanor JJ, Goodman L, de Sauvage F, Stone DM, Poulsen KT, Beck CD, Gray C, Armanini MP, Pollock RA and Hefti F et al.: Characterization of a multicomponent receptor for GDNF. Nature 1996, 382:80-83.
-
(1996)
Nature
, vol.382
, pp. 80-83
-
-
Treanor, J.J.1
Goodman, L.2
de Sauvage, F.3
Stone, D.M.4
Poulsen, K.T.5
Beck, C.D.6
Gray, C.7
Armanini, M.P.8
Pollock, R.A.9
Hefti, F.10
-
22
-
-
0027446493
-
Neurotransmitter transporters: Recent progress
-
Amara SG and Kuhar MJ: Neurotransmitter transporters: recent progress. Annu Rev Neurosci 1993, 16:73-93.
-
(1993)
Annu. Rev. Neurosci.
, vol.16
, pp. 73-93
-
-
Amara, S.G.1
Kuhar, M.J.2
-
23
-
-
0031002024
-
Dopamine neuron agenesis in Nurr1-deficient mice
-
Zetterstrom RH, Solomin L, Jansson L, Hoffer BJ, Olson L and Perlmann T: Dopamine neuron agenesis in Nurr1-deficient mice. Science 1997, 276:248-250.
-
(1997)
Science
, vol.276
, pp. 248-250
-
-
Zetterstrom, R.H.1
Solomin, L.2
Jansson, L.3
Hoffer, B.J.4
Olson, L.5
Perlmann, T.6
-
24
-
-
0037226797
-
Mutations in NR4A2 associated with familial Parkinson disease
-
Le WD, Xu P, Jankovic J, Jiang H, Appel SH, Smith RG and Vassilatis DK: Mutations in NR4A2 associated with familial Parkinson disease. Nat Genet 2003, 33:85-89.
-
(2003)
Nat. Genet.
, vol.33
, pp. 85-89
-
-
Le, W.D.1
Xu, P.2
Jankovic, J.3
Jiang, H.4
Appel, S.H.5
Smith, R.G.6
Vassilatis, D.K.7
-
25
-
-
0032952414
-
Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions
-
Engelender S, Kaminsky Z, Guo X, Sharp AH, Amaravi RK, Kleiderlein JJ, Margolis RL, Troncoso JC, Lanahan AA and Worley PF et al.: Synphilin-1 associates with alpha-synuclein and promotes the formation of cytosolic inclusions. Nat Genet 1999, 22:110-114.
-
(1999)
Nat. Genet.
, vol.22
, pp. 110-114
-
-
Engelender, S.1
Kaminsky, Z.2
Guo, X.3
Sharp, A.H.4
Amaravi, R.K.5
Kleiderlein, J.J.6
Margolis, R.L.7
Troncoso, J.C.8
Lanahan, A.A.9
Worley, P.F.10
-
26
-
-
0034085796
-
Synphilin-1 is present in Lewy bodies in Parkinson's disease
-
Wakabayashi K, Engelender S, Yoshimoto M, Tsuji S, Ross CA and Takahashi H: Synphilin-1 is present in Lewy bodies in Parkinson's disease. Ann Neurol 2000, 47:521-523.
-
(2000)
Ann. Neurol.
, vol.47
, pp. 521-523
-
-
Wakabayashi, K.1
Engelender, S.2
Yoshimoto, M.3
Tsuji, S.4
Ross, C.A.5
Takahashi, H.6
-
27
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinico-pathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L and Lees AJ: Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinico-pathological study of 100 cases. J Neurol Neurosurg Psychiatry 1992, 55:181-184.
-
(1992)
J. Neurol. Neurosurg. Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
28
-
-
0022792421
-
Estimating the power of a proposed linkage study: A practical computer simulation approach
-
Boehnke M: Estimating the power of a proposed linkage study: a practical computer simulation approach. Am J Hum Genet 1986, 39:513-527.
-
(1986)
Am. J. Hum. Genet.
, vol.39
, pp. 513-527
-
-
Boehnke, M.1
-
29
-
-
2642531912
-
-
National Center for Biotechnology Information
-
National Center for Biotechnology Information [http://www.ncbi.nlm.nih.gov]
-
-
-
-
30
-
-
16944361915
-
Mapping of a familial essential tremor gene, FET1, to chromosome 3q13
-
Gulcher JR, Jonsson P, Kong A, Kristjansson K, Frigge ML, Karason A, Einarsdottir IE, Stefansson H, Einarsdottir AS and Sigurthoardottir S et al.: Mapping of a familial essential tremor gene, FET1, to chromosome 3q13. Nat Genet 1997, 17:84-87.
-
(1997)
Nat. Genet.
, vol.17
, pp. 84-87
-
-
Gulcher, J.R.1
Jonsson, P.2
Kong, A.3
Kristjansson, K.4
Frigge, M.L.5
Karason, A.6
Einarsdottir, I.E.7
Stefansson, H.8
Einarsdottir, A.S.9
Sigurthoardottir, S.10
-
31
-
-
0027581466
-
A polymorphic dinucleotide repeat at the D10S141 locus
-
Love DR, Gardner E and Ponder BA: A polymorphic dinucleotide repeat at the D10S141 locus. Hum Mol Genet 1993, 2:491.
-
(1993)
Hum. Mol. Genet.
, vol.2
, pp. 491
-
-
Love, D.R.1
Gardner, E.2
Ponder, B.A.3
-
34
-
-
0029945706
-
Descent graphs in pedigree analysis: Applications to haplotyping, location scores, and marker-sharing statistics
-
Sobel E and 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
-
35
-
-
0026529005
-
Model misspecification and multipoint linkage analysis
-
Risch N and Giuffra L: Model misspecification and multipoint linkage analysis. Hum Hered 1992, 42:77-92.
-
(1992)
Hum. Hered.
, vol.42
, pp. 77-92
-
-
Risch, N.1
Giuffra, L.2
-
36
-
-
0033942602
-
Linkage analysis in the presence of errors I: Complex-valued recombination fractions and complex phenotypes
-
Goring HH and Terwilliger JD: Linkage analysis in the presence of errors I: complex-valued recombination fractions and complex phenotypes. Am J Hum Genet 2000, 66:1095-1106.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1095-1106
-
-
Goring, H.H.1
Terwilliger, J.D.2
-
37
-
-
0033942718
-
Linkage analysis in the presence of errors II: Marker-locus genotyping errors modeled with hypercomplex recombination fractions
-
Goring HH and Terwilliger JD: Linkage analysis in the presence of errors II: marker-locus genotyping errors modeled with hypercomplex recombination fractions. Am J Hum Genet 2000, 66:1107-1118.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1107-1118
-
-
Goring, H.H.1
Terwilliger, J.D.2
-
38
-
-
0034164617
-
Linkage analysis in the presence of errors III: Marker loci and their map as nuisance parameters
-
Goring HH and Terwilliger JD: Linkage analysis in the presence of errors III: marker loci and their map as nuisance parameters. Am J Hum Genet 2000, 66:1298-1309.
-
(2000)
Am. J. Hum. Genet.
, vol.66
, pp. 1298-1309
-
-
Goring, H.H.1
Terwilliger, J.D.2
-
39
-
-
0028080267
-
NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3
-
Mages HW, Rilke O, Bravo R, Senger G and Kroczek RA: NOT, a human immediate-early response gene closely related to the steroid/thyroid hormone receptor NAK1/TR3. Mol Endocrinol 1994, 8:1583-1591.
-
(1994)
Mol. Endocrinol.
, vol.8
, pp. 1583-1591
-
-
Mages, H.W.1
Rilke, O.2
Bravo, R.3
Senger, G.4
Kroczek, R.A.5
-
40
-
-
0026761657
-
A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs
-
Vandenbergh DJ, Persico AM and Uhl GR: A human dopamine transporter cDNA predicts reduced glycosylation, displays a novel repetitive element and provides racially-dimorphic TaqI RFLPs. Brain Res Mol Brain Res 1992, 15:161-166.
-
(1992)
Brain Res. Mol. Brain Res.
, vol.15
, pp. 161-166
-
-
Vandenbergh, D.J.1
Persico, A.M.2
Uhl, G.R.3
-
41
-
-
0028979805
-
The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1
-
Schindelhauer D, Schuffenhauer S, Gasser T, Steinkasserer A and Meitinger T: The gene coding for glial cell line derived neurotrophic factor (GDNF) maps to chromosome 5p12-p13.1. Genomics 1995, 28:605-607.
-
(1995)
Genomics
, vol.28
, pp. 605-607
-
-
Schindelhauer, D.1
Schuffenhauer, S.2
Gasser, T.3
Steinkasserer, A.4
Meitinger, T.5
-
42
-
-
0024351090
-
Human ret proto-oncogene mapped to chromosome 10q11.2
-
Ishizaka Y, Itoh F, Tahira T, Ikeda I, Sugimura T, Tucker J, Fertitta A, Carrano AV and Nagao M: Human ret proto-oncogene mapped to chromosome 10q11.2. Oncogene 1989, 4:1519-1521.
-
(1989)
Oncogene
, vol.4
, pp. 1519-1521
-
-
Ishizaka, Y.1
Itoh, F.2
Tahira, T.3
Ikeda, I.4
Sugimura, T.5
Tucker, J.6
Fertitta, A.7
Carrano, A.V.8
Nagao, M.9
-
43
-
-
0025720531
-
Human and rat brain-derived neurotrophic factor and neurotrophin-3: Gene structures, distributions, and chromosomal localizations
-
Maisonpierre PC, Le Beau MM, Espinosa R 3rd, Ip NY, Belluscio L, dela Monte SM, Squinto S, Furth ME and Yancopoulos GD: Human and rat brain-derived neurotrophic factor and neurotrophin-3: gene structures, distributions, and chromosomal localizations. Genomics 1991, 10:558-568.
-
(1991)
Genomics
, vol.10
, pp. 558-568
-
-
Maisonpierre, P.C.1
Le Beau, M.M.2
Espinosa III, R.3
Ip, N.Y.4
Belluscio, L.5
dela Monte, S.M.6
Squinto, S.7
Furth, M.E.8
Yancopoulos, G.D.9
|