-
1
-
-
0028127866
-
Autosomal dominant Lewy body parkinsonism in a four-generation family
-
Waters, C.H. and Miller, C.A. (1994) Autosomal dominant Lewy body parkinsonism in a four-generation family. Ann. Neurol., 35, 59-64.
-
(1994)
Ann. Neurol
, vol.35
, pp. 59-64
-
-
Waters, C.H.1
Miller, C.A.2
-
2
-
-
0028869758
-
Genetic anticipation in Parkinson's disease
-
Payami, H., Bernard, S., Larsen, K., Kaye, J. and Nutt, J. (1995) Genetic anticipation in Parkinson's disease. Neurology, 45, 135-138.
-
(1995)
Neurology
, vol.45
, pp. 135-138
-
-
Payami, H.1
Bernard, S.2
Larsen, K.3
Kaye, J.4
Nutt, J.5
-
3
-
-
0028828141
-
A clinical and genetic study of familial cases of Parkinson's disease
-
Plante-Bordeneuve, V., Taussig, D., Thomas, F., Ziegler, M. and Said, G. (1995) A clinical and genetic study of familial cases of Parkinson's disease. J. Neurol. Sci., 133, 164-172.
-
(1995)
J. Neurol. Sci
, vol.133
, pp. 164-172
-
-
Plante-Bordeneuve, V.1
Taussig, D.2
Thomas, F.3
Ziegler, M.4
Said, G.5
-
4
-
-
0029049738
-
Western Nebraska family (family D) with autosomal dominant parkinsonism
-
Wszolek, Z.K., Pfeiffer, B., Fulgham, J.R., Parisi, J.E., Thompson, B.M., Uitti, R.J., Calne, D.B. and Pfeiffer, R.F. (1995) Western Nebraska family (family D) with autosomal dominant parkinsonism. Neurology, 45, 502-505.
-
(1995)
Neurology
, vol.45
, pp. 502-505
-
-
Wszolek, Z.K.1
Pfeiffer, B.2
Fulgham, J.R.3
Parisi, J.E.4
Thompson, B.M.5
Uitti, R.J.6
Calne, D.B.7
Pfeiffer, R.F.8
-
5
-
-
0029806563
-
Clinical genetic analysis of Parkinson's disease in the Contursi kindred
-
Golbe, L.I., Di Iorio, G., Sanges, G., Lazzarini, A.M., La Sala, S., Bonavita, V. and Duvoisin, R.C. (1996) Clinical genetic analysis of Parkinson's disease in the Contursi kindred. Ann. Neurol., 40 767-775.
-
(1996)
Ann. Neurol
, vol.40
, pp. 767-775
-
-
Golbe, L.I.1
Di Iorio, G.2
Sanges, G.3
Lazzarini, A.M.4
La Sala, S.5
Bonavita, V.6
Duvoisin, R.C.7
-
6
-
-
0029750744
-
Anticipation in familial Parkinson's disease: A reanalysis of 13 United Kingdom kindreds
-
Maraganore, D.M., Schaid, D.J., Rocca, W.A. and Harding, A.E. (1996) Anticipation in familial Parkinson's disease: A reanalysis of 13 United Kingdom kindreds. Neurology, 47, 1512-1517.
-
(1996)
Neurology
, vol.47
, pp. 1512-1517
-
-
Maraganore, D.M.1
Schaid, D.J.2
Rocca, W.A.3
Harding, A.E.4
-
7
-
-
0029996628
-
Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset
-
Morrison, P.J., Godwin-Austen, R.B. and Raeburn, J.A. (1996) Familial autosomal dominant dopa responsive Parkinson's disease in three living generations showing extreme anticipation and childhood onset. J. Med. Genet., 33, 504-506.
-
(1996)
J. Med. Genet
, vol.33
, pp. 504-506
-
-
Morrison, P.J.1
Godwin-Austen, R.B.2
Raeburn, J.A.3
-
8
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
Polymeropoulos, M.H., Lavedan, C., Leroy, E., Ide, S.E., Dehejia, A., Dutra, A., Pike, B., Root, H., Rubenstein, J., Boyer, R. et al. (1997) Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science, 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
-
9
-
-
10544234193
-
Mapping of a gene for Parkinson's disease to chromosome 4q21-q23
-
Polymeropoulos, M.H., Higgins, J.J., Golbe, L.I., Johnson, W.G., Ide, S.E., Di Iorio, G., Sanges, G., Stenroos, E.S., Pho, L.T., Schaffer, A.A. et al. (1996) Mapping of a gene for Parkinson's disease to chromosome 4q21-q23. Science, 274, 1197-1199.
-
(1996)
Science
, vol.274
, pp. 1197-1199
-
-
Polymeropoulos, M.H.1
Higgins, J.J.2
Golbe, L.I.3
Johnson, W.G.4
Ide, S.E.5
Di Iorio, G.6
Sanges, G.7
Stenroos, E.S.8
Pho, L.T.9
Schaffer, A.A.10
-
10
-
-
0242300619
-
α-Synuclein locus triplication causes Parkinson's disease
-
Singleton, A.B., Farrer, M., Johnson, J., Singleton, A., Hague, S., Kachergus, J., Hulihan, M., Peuralinna, T., Dutra, A., Nussbaum, R. et al. (2003) α-Synuclein locus triplication causes Parkinson's disease. Science, 302, 841.
-
(2003)
Science
, vol.302
, pp. 841
-
-
Singleton, A.B.1
Farrer, M.2
Johnson, J.3
Singleton, A.4
Hague, S.5
Kachergus, J.6
Hulihan, M.7
Peuralinna, T.8
Dutra, A.9
Nussbaum, R.10
-
11
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
-
Paisan-Ruiz, C., Jain, S., Evans, E.W., Gilks, W.P., Simon, J., van der Brug, M., Lopez de Munain, A., Aparicio, S., Gil, A.M., Khan, N. et al. (2004) Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron, 44, 595-600.
-
(2004)
Neuron
, vol.44
, pp. 595-600
-
-
Paisan-Ruiz, C.1
Jain, S.2
Evans, E.W.3
Gilks, W.P.4
Simon, J.5
van der Brug, M.6
Lopez de Munain, A.7
Aparicio, S.8
Gil, A.M.9
Khan, N.10
-
12
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
Zimprich, A., Biskup, S., Leirner, P., Lichtner, P., Farrer, M., Lincoln, S., Kachergus, J., Hulihan, M., Uitti, R.J., Caine, D.B. et al. (2004) Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron, 44, 601-607.
-
(2004)
Neuron
, vol.44
, pp. 601-607
-
-
Zimprich, A.1
Biskup, S.2
Leirner, P.3
Lichtner, P.4
Farrer, M.5
Lincoln, S.6
Kachergus, J.7
Hulihan, M.8
Uitti, R.J.9
Caine, D.B.10
-
13
-
-
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., Mizurio, Y. and Shimizu, N. (1998) Mutations in the parkin gene cause autosomal recessive juvenile parkinsonism. Nature, 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
Mizurio, Y.8
Shimizu, N.9
-
14
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente, E.M., Abou-Sleiman, P.M., Caputo, V., Muqit, M.M., Harvey, K., Gispert, S., Ali, Z., Del Turco, D., Bentivoglio, A.R., Healy, D.G. et al. (2004) Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science, 304, 1158-1160.
-
(2004)
Science
, vol.304
, pp. 1158-1160
-
-
Valente, E.M.1
Abou-Sleiman, P.M.2
Caputo, V.3
Muqit, M.M.4
Harvey, K.5
Gispert, S.6
Ali, Z.7
Del Turco, D.8
Bentivoglio, A.R.9
Healy, D.G.10
-
15
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
Bonifati, V., Rizzu, P., van Baren, M.J., Schaap, O., Breedveld, G.J., Krieger, E., Dekker, M.C., Squitieri, F., Ibanez, P., Joosse, M. et al. (2003) Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science, 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
-
16
-
-
0033825336
-
Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response
-
Gray, C.W., Ward, R.V., Karran, E., Turconi, S., Rowles, A., Viglienghi, D., Southan, C., Barton, A., Fantom, K.G., West, A. et al. (2000) Characterization of human HtrA2, a novel serine protease involved in the mammalian cellular stress response. Eur. J. Biochem., 267, 5699-5710.
-
(2000)
Eur. J. Biochem
, vol.267
, pp. 5699-5710
-
-
Gray, C.W.1
Ward, R.V.2
Karran, E.3
Turconi, S.4
Rowles, A.5
Viglienghi, D.6
Southan, C.7
Barton, A.8
Fantom, K.G.9
West, A.10
-
17
-
-
0029004341
-
Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease
-
Sherrington, R., Rogaev, E.I., Liang, Y., Rogaeva, E.A., Levesque, G., Ikeda, M., Chi, H., Lin, C., Li, G., Holman, K. et al. (1995) Cloning of a gene bearing missense mutations in early-onset familial Alzheimer's disease. Nature, 375, 754-760.
-
(1995)
Nature
, vol.375
, pp. 754-760
-
-
Sherrington, R.1
Rogaev, E.I.2
Liang, Y.3
Rogaeva, E.A.4
Levesque, G.5
Ikeda, M.6
Chi, H.7
Lin, C.8
Li, G.9
Holman, K.10
-
18
-
-
0442323503
-
Alzheimer's disease-associated amyloid beta interacts with the human serine protease HtrA2/Omi
-
Park, H.J., Seong, Y.M., Choi, J.Y., Kang, S. and Rhim, H. (2004) Alzheimer's disease-associated amyloid beta interacts with the human serine protease HtrA2/Omi. Neurosci. Lett., 357, 63-67.
-
(2004)
Neurosci. Lett
, vol.357
, pp. 63-67
-
-
Park, H.J.1
Seong, Y.M.2
Choi, J.Y.3
Kang, S.4
Rhim, H.5
-
19
-
-
0142246441
-
Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice
-
Jones, J.M., Datta, P., Srinivasula, S.M., Ji, W., Gupta, S., Zhang, Z., Davies, E., Hajnoczky, G., Saunders, T.L., Van Keuren, M.L. et al. (2003) Loss of Omi mitochondrial protease activity causes the neuromuscular disorder of mnd2 mutant mice. Nature, 425, 721-727.
-
(2003)
Nature
, vol.425
, pp. 721-727
-
-
Jones, J.M.1
Datta, P.2
Srinivasula, S.M.3
Ji, W.4
Gupta, S.5
Zhang, Z.6
Davies, E.7
Hajnoczky, G.8
Saunders, T.L.9
Van Keuren, M.L.10
-
20
-
-
7644230386
-
Neuroprotective role of the Reaper-related serine protease HtrA2/ Omi revealed by targeted deletion in mice
-
Martins, L.M., Morrison, A., Klupsch, K., Fedele, V., Moisoi, N., Teismann, P., Abuin, A., Grau, E., Geppert, M., Livi, G.P. et al. (2004) Neuroprotective role of the Reaper-related serine protease HtrA2/ Omi revealed by targeted deletion in mice. Mol. Cell Biol., 24 9848-9862.
-
(2004)
Mol. Cell Biol
, vol.24
, pp. 9848-9862
-
-
Martins, L.M.1
Morrison, A.2
Klupsch, K.3
Fedele, V.4
Moisoi, N.5
Teismann, P.6
Abuin, A.7
Grau, E.8
Geppert, M.9
Livi, G.P.10
-
21
-
-
25444498785
-
Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease
-
Strauss, K.M., Martins, L.M., Plun-Favreau, H., Marx, F.P., Kautzmann, S., Berg, D., Gasser, T., Wszolek, Z., Muller, T., Bornemann, A. et al. (2005) Loss of function mutations in the gene encoding Omi/HtrA2 in Parkinson's disease. Hum. Mol. Genet., 14, 2099-2111.
-
(2005)
Hum. Mol. Genet
, vol.14
, pp. 2099-2111
-
-
Strauss, K.M.1
Martins, L.M.2
Plun-Favreau, H.3
Marx, F.P.4
Kautzmann, S.5
Berg, D.6
Gasser, T.7
Wszolek, Z.8
Muller, T.9
Bornemann, A.10
-
22
-
-
0031951197
-
A susceptibility locus for Parkinson's disease maps to chromosome 2p13
-
Gasser, T., Muller-Myhsok, B., Wszolek, Z.K., Oehlmann, R., Calne, D.B., Bonifati, V., Bereznai, B., Fabrizio, E., Vieregge, P. and Horstmann, R.D. (1998) A susceptibility locus for Parkinson's disease maps to chromosome 2p13. Nat. Genet., 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
-
23
-
-
0034814928
-
Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes
-
West, A.B., Zimprich, A., Lockhart, P.J., Farrer, M., Singleton, A., Holtom, B., Lincoln, S., Hofer, A., Hill, L., Muller-Myhsok, B. et al. (2001) Refinement of the PARK3 locus on chromosome 2p13 and the analysis of 14 candidate genes. Eur. J. Hum. Genet., 9, 659-666.
-
(2001)
Eur. J. Hum. Genet
, vol.9
, pp. 659-666
-
-
West, A.B.1
Zimprich, A.2
Lockhart, P.J.3
Farrer, M.4
Singleton, A.5
Holtom, B.6
Lincoln, S.7
Hofer, A.8
Hill, L.9
Muller-Myhsok, B.10
-
24
-
-
2342611060
-
Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci
-
Pankratz, N., Uniacke, S.K., Halter, C.A., Rudolph, A., Shults, C.W., Conneally, P.M., Foroud, T. and Nichols, W.C. (2004) Genes influencing Parkinson disease onset: Replication of PARK3 and identification of novel loci. Neurology, 62, 1616-1618.
-
(2004)
Neurology
, vol.62
, pp. 1616-1618
-
-
Pankratz, N.1
Uniacke, S.K.2
Halter, C.A.3
Rudolph, A.4
Shults, C.W.5
Conneally, P.M.6
Foroud, T.7
Nichols, W.C.8
-
25
-
-
0025215247
-
Power and sample size calculations. A review and computer program
-
Dupont, W.D. and Plummer, W.D Jr (1990) Power and sample size calculations. A review and computer program. Control Clin. Trials, 11, 116-128.
-
(1990)
Control Clin. Trials
, vol.11
, pp. 116-128
-
-
Dupont, W.D.1
Plummer Jr, W.D.2
-
26
-
-
34548292504
-
PLINK: A tool set for whole-genome association and population-based linkage analyses
-
Purcell, S., Neale, B., Todd-Brown, K., Thomas, L., Ferreira, M.A., Bender, D., Mailer, J., Sklar, P., de Bakker, P.I., Daly, M.J. et al. (2007) PLINK: A tool set for whole-genome association and population-based linkage analyses. Am. J. Hum. Genet., 81, 559-575.
-
(2007)
Am. J. Hum. Genet
, vol.81
, pp. 559-575
-
-
Purcell, S.1
Neale, B.2
Todd-Brown, K.3
Thomas, L.4
Ferreira, M.A.5
Bender, D.6
Mailer, J.7
Sklar, P.8
de Bakker, P.I.9
Daly, M.J.10
|