-
1
-
-
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.J., Squitieri F., Ibanez P., Joosse M., van Dongen J.W., Vanacore N., van Swieten J.C., Brice A., Meco G., van Duijn C.M., Oostra B.A., and Heutink P. Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism. Science 299 (2003) 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.J.7
Squitieri, F.8
Ibanez, P.9
Joosse, M.10
van Dongen, J.W.11
Vanacore, N.12
van Swieten, J.C.13
Brice, A.14
Meco, G.15
van Duijn, C.M.16
Oostra, B.A.17
Heutink, P.18
-
2
-
-
58049204425
-
Lack of replication of association between GIGYF2 variants and Parkinson disease
-
Bras J., Simón-Sánchez J., Federoff M., Morgadinho A., Januario C., Ribeiro M., Cunha L., Oliveira C., and Singleton A.B. Lack of replication of association between GIGYF2 variants and Parkinson disease. Hum. Mol. Genet. 18 (2009) 341-346
-
(2009)
Hum. Mol. Genet.
, vol.18
, pp. 341-346
-
-
Bras, J.1
Simón-Sánchez, J.2
Federoff, M.3
Morgadinho, A.4
Januario, C.5
Ribeiro, M.6
Cunha, L.7
Oliveira, C.8
Singleton, A.B.9
-
3
-
-
33748860074
-
The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor
-
Deng H., Le W., Davidson A.L., Xie W., and Jankovic J. The LRRK2 I2012T, G2019S and I2020T mutations are not common in patients with essential tremor. Neurosci. Lett. 407 (2006) 97-100
-
(2006)
Neurosci. Lett.
, vol.407
, pp. 97-100
-
-
Deng, H.1
Le, W.2
Davidson, A.L.3
Xie, W.4
Jankovic, J.5
-
4
-
-
33751227461
-
Genetic analysis of LRRK2 mutations in patients with Parkinson disease
-
Deng H., Le W., Guo Y., Hunter C.B., Xie W., Huang M., and Jankovic J. Genetic analysis of LRRK2 mutations in patients with Parkinson disease. J. Neurol. Sci. 251 (2006) 102-106
-
(2006)
J. Neurol. Sci.
, vol.251
, pp. 102-106
-
-
Deng, H.1
Le, W.2
Guo, Y.3
Hunter, C.B.4
Xie, W.5
Huang, M.6
Jankovic, J.7
-
5
-
-
20444414834
-
Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation
-
Deng H., Le W., Guo Y., Hunter C.B., Xie W., and Jankovic J. Genetic and clinical identification of Parkinson's disease patients with LRRK2 G2019S mutation. Ann. Neurol. 57 (2005) 933-934
-
(2005)
Ann. Neurol.
, vol.57
, pp. 933-934
-
-
Deng, H.1
Le, W.2
Guo, Y.3
Hunter, C.B.4
Xie, W.5
Jankovic, J.6
-
6
-
-
5044245884
-
Premutation alleles associated with Parkinson disease and essential tremor
-
Deng H., Le W., and Jankovic J. Premutation alleles associated with Parkinson disease and essential tremor. JAMA 292 (2004) 1685-1686
-
(2004)
JAMA
, vol.292
, pp. 1685-1686
-
-
Deng, H.1
Le, W.2
Jankovic, J.3
-
7
-
-
18944385686
-
G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients
-
Deng H., Le W.D., Zhang X., Pan T.H., and Jankovic J. G309D and W437OPA PINK1 mutations in Caucasian Parkinson's disease patients. Acta Neurol. Scand. 111 (2005) 351-352
-
(2005)
Acta Neurol. Scand.
, vol.111
, pp. 351-352
-
-
Deng, H.1
Le, W.D.2
Zhang, X.3
Pan, T.H.4
Jankovic, J.5
-
8
-
-
33646913235
-
Gene dosage analysis of alphasynuclein (SNCA) in patients with Parkinson's disease
-
Deng H., Xie W., Guo Y., Le W., and Jankovic J. Gene dosage analysis of alphasynuclein (SNCA) in patients with Parkinson's disease. Mov. Disord. 21 (2006) 728-729
-
(2006)
Mov. Disord.
, vol.21
, pp. 728-729
-
-
Deng, H.1
Xie, W.2
Guo, Y.3
Le, W.4
Jankovic, J.5
-
9
-
-
33646413420
-
Genetic analysis of the GABRA1 gene in patients with essential tremor
-
Deng H., Xie W.J., Le W.D., Huang M.S., and Jankovic J. Genetic analysis of the GABRA1 gene in patients with essential tremor. Neurosci. Lett. 401 (2006) 16-19
-
(2006)
Neurosci. Lett.
, vol.401
, pp. 16-19
-
-
Deng, H.1
Xie, W.J.2
Le, W.D.3
Huang, M.S.4
Jankovic, J.5
-
10
-
-
41149163183
-
Parkinson's disease: clinical features and diagnosis
-
Jankovic J. Parkinson's disease: clinical features and diagnosis. J. Neurol. Neurosurg. Psychiatry 79 (2008) 368-376
-
(2008)
J. Neurol. Neurosurg. Psychiatry
, vol.79
, pp. 368-376
-
-
Jankovic, J.1
-
11
-
-
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 392 (1998) 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
-
12
-
-
41649096247
-
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease
-
Lautier C., Goldwurm S., Dürr A., Giovannone B., Tsiaras W.G., Pezzoli G., Brice A., and Smith R.J. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. Am. J. Hum. Genet. 82 (2008) 822-833
-
(2008)
Am. J. Hum. Genet.
, vol.82
, pp. 822-833
-
-
Lautier, C.1
Goldwurm, S.2
Dürr, A.3
Giovannone, B.4
Tsiaras, W.G.5
Pezzoli, G.6
Brice, A.7
Smith, R.J.8
-
13
-
-
0037131567
-
The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility
-
Liu Y., Fallon L., Lashuel H.A., Liu Z., and Lansbury Jr. P.T. The UCH-L1 gene encodes two opposing enzymatic activities that affect alpha-synuclein degradation and Parkinson's disease susceptibility. Cell 111 (2002) 209-218
-
(2002)
Cell
, vol.111
, pp. 209-218
-
-
Liu, Y.1
Fallon, L.2
Lashuel, H.A.3
Liu, Z.4
Lansbury Jr., P.T.5
-
14
-
-
1842580632
-
LGI1 mutations in autosomal dominant partial epilepsy with auditory features
-
Ottman R., Winawer M.R., Kalachikov S., Barker-Cummings C., Gilliam T.C., Pedley T.A., and Hauser W.A. LGI1 mutations in autosomal dominant partial epilepsy with auditory features. Neurology 62 (2004) 1120-1126
-
(2004)
Neurology
, vol.62
, pp. 1120-1126
-
-
Ottman, R.1
Winawer, M.R.2
Kalachikov, S.3
Barker-Cummings, C.4
Gilliam, T.C.5
Pedley, T.A.6
Hauser, W.A.7
-
15
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
-
Paisán-Ruíz C., Jain S., Evans E.W., Gilks W.P., Simón J., van der Brug M., López de Munain A., Aparicio S., Gil A.M., Khan N., Johnson J., Martinez J.R., Nicholl D., Carrera I.M., Pena A.S., de Silva R., Lees A., Martí-Massó J.F., Pérez-Tur J., Wood N.W., and Singleton A.B. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 44 (2004) 595-600
-
(2004)
Neuron
, vol.44
, pp. 595-600
-
-
Paisán-Ruíz, C.1
Jain, S.2
Evans, E.W.3
Gilks, W.P.4
Simón, J.5
van der Brug, M.6
López de Munain, A.7
Aparicio, S.8
Gil, A.M.9
Khan, N.10
Johnson, J.11
Martinez, J.R.12
Nicholl, D.13
Carrera, I.M.14
Pena, A.S.15
de Silva, R.16
Lees, A.17
Martí-Massó, J.F.18
Pérez-Tur, J.19
Wood, N.W.20
Singleton, A.B.21
more..
-
16
-
-
35748935851
-
The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1
-
Plun-Favreau H., Klupsch K., Moisoi N., Gandhi S., Kjaer S., Frith D., Harvey K., Deas E., Harvey R.J., McDonald N., Wood N.W., Martins L.M., and Downward J. The mitochondrial protease HtrA2 is regulated by Parkinson's disease-associated kinase PINK1. Nat. Cell Biol. 9 (2007) 1243-1252
-
(2007)
Nat. Cell Biol.
, vol.9
, pp. 1243-1252
-
-
Plun-Favreau, H.1
Klupsch, K.2
Moisoi, N.3
Gandhi, S.4
Kjaer, S.5
Frith, D.6
Harvey, K.7
Deas, E.8
Harvey, R.J.9
McDonald, N.10
Wood, N.W.11
Martins, L.M.12
Downward, J.13
-
17
-
-
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., Stenroos E.S., Chandrasekharappa S., Athanassiadou A., Papepetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., and Nussbaum R.L. Mutation in the alpha-synuclein gene identified in families with Parkinson's disease. Science 276 (1997) 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
Stenroos, E.S.11
Chandrasekharappa, S.12
Athanassiadou, A.13
Papepetropoulos, T.14
Johnson, W.G.15
Lazzarini, A.M.16
Duvoisin, R.C.17
Di Iorio, G.18
Golbe, L.I.19
Nussbaum, R.L.20
more..
-
18
-
-
33749133430
-
Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase
-
Ramirez A., Heimbach A., Gründemann J., Stiller B., Hampshire D., Cid L.P., Goebel I., Mubaidin A.F., Wriekat A.L., Roeper J., Al-Din A., Hillmer A.M., Karsak M., Liss B., Woods C.G., Behrens M.I., and Kubisch C. Hereditary parkinsonism with dementia is caused by mutations in ATP13A2, encoding a lysosomal type 5 P-type ATPase. Nat. Genet. 38 (2006) 1184-1191
-
(2006)
Nat. Genet.
, vol.38
, pp. 1184-1191
-
-
Ramirez, A.1
Heimbach, A.2
Gründemann, J.3
Stiller, B.4
Hampshire, D.5
Cid, L.P.6
Goebel, I.7
Mubaidin, A.F.8
Wriekat, A.L.9
Roeper, J.10
Al-Din, A.11
Hillmer, A.M.12
Karsak, M.13
Liss, B.14
Woods, C.G.15
Behrens, M.I.16
Kubisch, C.17
-
19
-
-
0242300619
-
Alpha-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., Lincoln S., Crawley A., Hanson M., Maraganore D., Adler C., Cookson M.R., Muenter M., Baptista M., Miller D., Blancato J., Hardy J., and Gwinn-Hardy K. Alpha-synuclein locus triplication causes Parkinson's disease. Science 302 (2003) 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
Lincoln, S.11
Crawley, A.12
Hanson, M.13
Maraganore, D.14
Adler, C.15
Cookson, M.R.16
Muenter, M.17
Baptista, M.18
Miller, D.19
Blancato, J.20
Hardy, J.21
Gwinn-Hardy, K.22
more..
-
20
-
-
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., Albanese A., Nussbaum R., González-Maldonado R., Deller T., Salvi S., Cortelli P., Gilks W.P., Latchman D.S., Harvey R.J., Dallapiccola B., Auburger G., and Wood N.W. Hereditary early-onset Parkinson's disease caused by mutations in PINK1. Science 304 (2004) 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
Albanese, A.11
Nussbaum, R.12
González-Maldonado, R.13
Deller, T.14
Salvi, S.15
Cortelli, P.16
Gilks, W.P.17
Latchman, D.S.18
Harvey, R.J.19
Dallapiccola, B.20
Auburger, G.21
Wood, N.W.22
more..
-
21
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
Zimprich A., Biskup S., Leitner P., Lichtner P., Farrer M., Lincoln S., Kachergus J., Hulihan M., Uitti R.J., Calne D.B., Stoessl A.J., Pfeiffer R.F., Patenge N., Carbajal I.C., Vieregge P., Asmus F., Müller-Myhsok B., Dickson D.W., Meitinger T., Strom T.M., Wszolek Z.K., and Gasser T. Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology. Neuron 44 (2004) 601-607
-
(2004)
Neuron
, vol.44
, pp. 601-607
-
-
Zimprich, A.1
Biskup, S.2
Leitner, P.3
Lichtner, P.4
Farrer, M.5
Lincoln, S.6
Kachergus, J.7
Hulihan, M.8
Uitti, R.J.9
Calne, D.B.10
Stoessl, A.J.11
Pfeiffer, R.F.12
Patenge, N.13
Carbajal, I.C.14
Vieregge, P.15
Asmus, F.16
Müller-Myhsok, B.17
Dickson, D.W.18
Meitinger, T.19
Strom, T.M.20
Wszolek, Z.K.21
Gasser, T.22
more..
|