-
1
-
-
0033365388
-
Genetic analysis of families with Parkinson disease that carry the ala53-to-thr mutation in the gene encoding alpha-synuclein
-
Athanassiadou A., Voutsinas G., Psiouri L., Leroy E., Polymeropoulos M.H., Ilias A., Maniatis G.M., Papapetropoulos T. Genetic analysis of families with Parkinson disease that carry the ala53-to-thr mutation in the gene encoding alpha-synuclein. American Journal of Human Genetics 1999, 65:555-558.
-
(1999)
American Journal of Human Genetics
, vol.65
, pp. 555-558
-
-
Athanassiadou, A.1
Voutsinas, G.2
Psiouri, L.3
Leroy, E.4
Polymeropoulos, M.H.5
Ilias, A.6
Maniatis, G.M.7
Papapetropoulos, T.8
-
3
-
-
52649172690
-
Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease
-
Choi J.M., Woo M.S., Ma H.I., Kang S.Y., Sung Y.H., Yong S.W., Chung S.J., Kim J.S., Shin H.W., Lyoo C.H., Lee P.H., Baik J.S., Kim S.J., Park M.Y., Sohn Y.H., Kim J.H., Kim J.W., Lee M.S., Lee M.C., Kim D.H., Kim Y.J. Analysis of PARK genes in a Korean cohort of early-onset Parkinson disease. Neurogenetics 2008, 9:263-269.
-
(2008)
Neurogenetics
, vol.9
, pp. 263-269
-
-
Choi, J.M.1
Woo, M.S.2
Ma, H.I.3
Kang, S.Y.4
Sung, Y.H.5
Yong, S.W.6
Chung, S.J.7
Kim, J.S.8
Shin, H.W.9
Lyoo, C.H.10
Lee, P.H.11
Baik, J.S.12
Kim, S.J.13
Park, M.Y.14
Sohn, Y.H.15
Kim, J.H.16
Kim, J.W.17
Lee, M.S.18
Lee, M.C.19
Kim, D.H.20
Kim, Y.J.21
more..
-
4
-
-
19944431081
-
Italian Parkinson genetics network, a frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
-
Di Fonzo A., Rohe C.F., Ferreira J., Chien H.F., Vacca L., Stocchi F., Guedes L., Fabrizio E., Manfredi M., Vanacore N., Goldwurm S., Breedveld G., .Sampaio C., Meco G., Barbosa E., Oostra B.A., Bonifati V. Italian Parkinson genetics network, a frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 2005, 365:412-415.
-
(2005)
Lancet
, vol.365
, pp. 412-415
-
-
Di Fonzo, A.1
Rohe, C.F.2
Ferreira, J.3
Chien, H.F.4
Vacca, L.5
Stocchi, F.6
Guedes, L.7
Fabrizio, E.8
Manfredi, M.9
Vanacore, N.10
Goldwurm, S.11
Breedveld, G.12
.Sampaio, C.13
Meco, G.14
Barbosa, E.15
Oostra, B.A.16
Bonifati, V.17
-
5
-
-
33746079596
-
A common missense variant in the LRRK2 gene, gly2385-to-arg, associated with Parkinson's disease risk in Taiwan
-
Di Fonzo A., Wu Chou Y.H., Lu C.S., van Doeselaar M., Simons E.J., Rohe C.F., Chang H.C., Chen R.S., Weng Y.H., Vanacore N., Breedveld G.J., Oostra B.A., Bonifati V. A common missense variant in the LRRK2 gene, gly2385-to-arg, associated with Parkinson's disease risk in Taiwan. Neurogenetics 2006, 7:133-138.
-
(2006)
Neurogenetics
, vol.7
, pp. 133-138
-
-
Di Fonzo, A.1
Wu Chou, Y.H.2
Lu, C.S.3
van Doeselaar, M.4
Simons, E.J.5
Rohe, C.F.6
Chang, H.C.7
Chen, R.S.8
Weng, Y.H.9
Vanacore, N.10
Breedveld, G.J.11
Oostra, B.A.12
Bonifati, V.13
-
6
-
-
2642607011
-
Low frequency of alpha-synuclein mutations in familial Parkinson's disease
-
Farrer M., Wavrant-De Vrieze F., Crook R., Boles L., Perez-Tur J., Hardy J., Johnson W.G., Steele J., Maraganore D., Gwinn K., Lynch T. Low frequency of alpha-synuclein mutations in familial Parkinson's disease. Annals of Neurology 1998, 43:394-397.
-
(1998)
Annals of Neurology
, vol.43
, pp. 394-397
-
-
Farrer, M.1
Wavrant-De Vrieze, F.2
Crook, R.3
Boles, L.4
Perez-Tur, J.5
Hardy, J.6
Johnson, W.G.7
Steele, J.8
Maraganore, D.9
Gwinn, K.10
Lynch, T.11
-
7
-
-
20444420103
-
An LRRK2 mutation as a cause for the Parkinsonism in the original PARK8 family
-
Funayama M., Hasegawa K., Ohta E., Kawashima N., Komiyama M., Kowa H., Tsuji S., Obata F. An LRRK2 mutation as a cause for the Parkinsonism in the original PARK8 family. Annals of Neurology 2005, 57:918-921.
-
(2005)
Annals of Neurology
, vol.57
, pp. 918-921
-
-
Funayama, M.1
Hasegawa, K.2
Ohta, E.3
Kawashima, N.4
Komiyama, M.5
Kowa, H.6
Tsuji, S.7
Obata, F.8
-
8
-
-
33645793947
-
Wood UCHL-1 is not a Parkinson's disease susceptibility gene
-
Healy D.G., Abou-Sleiman P.M., Casas J.P., Ahmadi K.R., Lynch T., Gandhi S., Muqit M.M., Foltynie T., Barker R., Bhatia K.P., Quinn N.P., Lees A.J., Gibson J.M., Holton J.L., Revesz T., Goldstein D.B., Wood N.W. Wood UCHL-1 is not a Parkinson's disease susceptibility gene. Annals of Neurology 2006, 59:627-633.
-
(2006)
Annals of Neurology
, vol.59
, pp. 627-633
-
-
Healy, D.G.1
Abou-Sleiman, P.M.2
Casas, J.P.3
Ahmadi, K.R.4
Lynch, T.5
Gandhi, S.6
Muqit, M.M.7
Foltynie, T.8
Barker, R.9
Bhatia, K.P.10
Quinn, N.P.11
Lees, A.J.12
Gibson, J.M.13
Holton, J.L.14
Revesz, T.15
Goldstein, D.B.16
Wood, N.W.17
-
9
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson s disease: a clinico-pathological study of 100 cases
-
Hughes A.J., Daniel S.E., Kilford L., Lees A.J. Accuracy of clinical diagnosis of idiopathic Parkinson s disease: a clinico-pathological study of 100 cases. Journal of Neurology Neurosurgery and Psychiatry 1992, 55:181-184.
-
(1992)
Journal of Neurology Neurosurgery and Psychiatry
, vol.55
, pp. 181-184
-
-
Hughes, A.J.1
Daniel, S.E.2
Kilford, L.3
Lees, A.J.4
-
10
-
-
33847751421
-
Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families
-
Ishihara L., Gibson R.A., Warren L., Amouri R., Lyons K., Wielinski C., Hunter C., Swartz J.E., Elango R., Akkari P.A., Leppert D., Surh L., Reeves K.H., Thomas S., Ragone L., Hattori N., Pahwa R., Jankovic J., Nance M., Freeman A., Gouider-Khouja N., Kefi M., Zouari M., Ben Sassi S., Ben Yahmed S., El Euch-Fayeche G., Middleton L., Burn D.J., Watts R.L., Hentati F. Screening for Lrrk2 G2019S and clinical comparison of Tunisian and North American Caucasian Parkinson's disease families. Movement Disorders 2007, 22:55-61.
-
(2007)
Movement Disorders
, vol.22
, pp. 55-61
-
-
Ishihara, L.1
Gibson, R.A.2
Warren, L.3
Amouri, R.4
Lyons, K.5
Wielinski, C.6
Hunter, C.7
Swartz, J.E.8
Elango, R.9
Akkari, P.A.10
Leppert, D.11
Surh, L.12
Reeves, K.H.13
Thomas, S.14
Ragone, L.15
Hattori, N.16
Pahwa, R.17
Jankovic, J.18
Nance, M.19
Freeman, A.20
Gouider-Khouja, N.21
Kefi, M.22
Zouari, M.23
Ben Sassi, S.24
Ben Yahmed, S.25
El Euch-Fayeche, G.26
Middleton, L.27
Burn, D.J.28
Watts, R.L.29
Hentati, F.30
more..
-
12
-
-
34248351183
-
The ala53thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease
-
Ki C.S., Stavrou E.F., Davanos N., Lee W.Y., Chung E.J., Kim J.Y., Athanassiadou A. The ala53thr mutation in the alpha-synuclein gene in a Korean family with Parkinson disease. Clinical Genetics 2007, 71:471-473.
-
(2007)
Clinical Genetics
, vol.71
, pp. 471-473
-
-
Ki, C.S.1
Stavrou, E.F.2
Davanos, N.3
Lee, W.Y.4
Chung, E.J.5
Kim, J.Y.6
Athanassiadou, A.7
-
13
-
-
41649096247
-
Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease
-
Lautier C., Goldwurm S., Durr A., Giovannone B., Tsiaras W.G., Pezzoli G., Brice A., Smith R.J. Mutations in the GIGYF2 (TNRC15) gene at the PARK11 locus in familial Parkinson disease. American Journal of Human Genetics 2008, 82:822-833.
-
(2008)
American Journal of Human Genetics
, vol.82
, pp. 822-833
-
-
Lautier, C.1
Goldwurm, S.2
Durr, A.3
Giovannone, B.4
Tsiaras, W.G.5
Pezzoli, G.6
Brice, A.7
Smith, R.J.8
-
14
-
-
27644455523
-
French Parkinson's disease genetics study group, G2019S LRRK2 mutation in French and North African families with Parkinson's disease
-
Lesage S., Ibanez P., Lohmann E., Pollak P., Tison F., Tazir M., Leutenegger A.L., Guimaraes J., Bonnet A.M., Agid Y., Dürr A., Brice A. French Parkinson's disease genetics study group, G2019S LRRK2 mutation in French and North African families with Parkinson's disease. Annals of Neurology 2005, 58:784-787.
-
(2005)
Annals of Neurology
, vol.58
, pp. 784-787
-
-
Lesage, S.1
Ibanez, P.2
Lohmann, E.3
Pollak, P.4
Tison, F.5
Tazir, M.6
Leutenegger, A.L.7
Guimaraes, J.8
Bonnet, A.M.9
Agid, Y.10
Dürr, A.11
Brice, A.12
-
15
-
-
34347247284
-
French Parkinson's disease genetics study group, frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease
-
Lesage S., Leclere L., Lohmann E., Borg M., Ruberg M., Dürr A., Brice A. French Parkinson's disease genetics study group, frequency of the LRRK2 G2019S mutation in siblings with Parkinson's disease. Neuro-degenerative Diseases 2007, 4:195-198.
-
(2007)
Neuro-degenerative Diseases
, vol.4
, pp. 195-198
-
-
Lesage, S.1
Leclere, L.2
Lohmann, E.3
Borg, M.4
Ruberg, M.5
Dürr, A.6
Brice, A.7
-
16
-
-
51349127197
-
LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies
-
Lin C.H., Tzen K.Y., Yu C.Y., Tai C.H., Farrer M.J., Wu R.M. LRRK2 mutation in familial Parkinson's disease in a Taiwanese population: clinical, PET, and functional studies. Journal of Biomedical Science 2008, 15:661-667.
-
(2008)
Journal of Biomedical Science
, vol.15
, pp. 661-667
-
-
Lin, C.H.1
Tzen, K.Y.2
Yu, C.Y.3
Tai, C.H.4
Farrer, M.J.5
Wu, R.M.6
-
17
-
-
33745510056
-
Essential tremor pathology: a case-control study from the essential tremor centralized brain repository
-
Louis E.D., Vonsattel J.P., Hong L.S., Ross G.W., Lyons K.E., Pahwa R. Essential tremor pathology: a case-control study from the essential tremor centralized brain repository. Movement Disorders 2005, 20:1241.
-
(2005)
Movement Disorders
, vol.20
, pp. 1241
-
-
Louis, E.D.1
Vonsattel, J.P.2
Hong, L.S.3
Ross, G.W.4
Lyons, K.E.5
Pahwa, R.6
-
19
-
-
28344457936
-
LRRK2 pathogenic substitutions in Parkinson's disease
-
Mata I.F., Kachergus J.M., Taylor J.P., Lincoln S., Aasly J., Lynch T., Hulihan M.M., Cobb S.A., Wu R.M., Lu C.S., Lahoz C., Wszolek Z.K., Farrer M.J. LRRK2 pathogenic substitutions in Parkinson's disease. Neurogenetics 2005, 6:171-177.
-
(2005)
Neurogenetics
, vol.6
, pp. 171-177
-
-
Mata, I.F.1
Kachergus, J.M.2
Taylor, J.P.3
Lincoln, S.4
Aasly, J.5
Lynch, T.6
Hulihan, M.M.7
Cobb, S.A.8
Wu, R.M.9
Lu, C.S.10
Lahoz, C.11
Wszolek, Z.K.12
Farrer, M.J.13
-
20
-
-
35848939603
-
The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?
-
Orr-Urtreger A., Shifrin C., Rozovski U., Rosner S., Bercovich D., Gurevich T., Yagev-More H., Bar-Shira A., Giladi N. The LRRK2 G2019S mutation in Ashkenazi Jews with Parkinson disease: is there a gender effect?. Neurology 2007, 69:1595-1602.
-
(2007)
Neurology
, vol.69
, pp. 1595-1602
-
-
Orr-Urtreger, A.1
Shifrin, C.2
Rozovski, U.3
Rosner, S.4
Bercovich, D.5
Gurevich, T.6
Yagev-More, H.7
Bar-Shira, A.8
Giladi, N.9
-
21
-
-
0037461351
-
Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy
-
Pagan F.L., Butman J.A., Dambrosia J.M., Hallett M. Evaluation of essential tremor with multi-voxel magnetic resonance spectroscopy. Neurology 2003, 60:1344-1347.
-
(2003)
Neurology
, vol.60
, pp. 1344-1347
-
-
Pagan, F.L.1
Butman, J.A.2
Dambrosia, J.M.3
Hallett, M.4
-
22
-
-
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., Johnson J., Martinez J.R., Nicholl D., Carrera I.M., Pena A.S., de Silva R., Lees A., Marti-Masso J.F., Perez-Tur J., Wood N.W., Singleton A.B. Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease. Neuron 2004, 44:575-577.
-
(2004)
Neuron
, vol.44
, pp. 575-577
-
-
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
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
Marti-Masso, J.F.18
Perez-Tur, J.19
Wood, N.W.20
Singleton, A.B.21
more..
-
23
-
-
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., Papapetropoulos T., Johnson W.G., Lazzarini A.M., Duvoisin R.C., Di Iorio G., Golbe L.I., Nussbaum R.L. 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
Stenroos, E.S.11
Chandrasekharappa, S.12
Athanassiadou, A.13
Papapetropoulos, 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..
-
24
-
-
45749135862
-
Sequencing analysis of OMI/HtrA2 shows previously reported pathogenic mutations in neurologically normal controls
-
Simon-Sanchez J., Singleton A.B. Sequencing analysis of OMI/HtrA2 shows previously reported pathogenic mutations in neurologically normal controls. Human Molecular Genetics 2008, 17:1988-1993.
-
(2008)
Human Molecular Genetics
, vol.17
, pp. 1988-1993
-
-
Simon-Sanchez, J.1
Singleton, A.B.2
-
25
-
-
33847314656
-
Exploring the relationship between essential tremor and Parkinson's disease
-
Shahed J., Jankovic J. Exploring the relationship between essential tremor and Parkinson's disease. Parkinsonism and Related Disorders 2007, 13:67-76.
-
(2007)
Parkinsonism and Related Disorders
, vol.13
, pp. 67-76
-
-
Shahed, J.1
Jankovic, J.2
-
26
-
-
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., Wolburg H., Downward J., Riess O., Schulz J.B., Kruger R. Loss of function mutations in the gene encoding OMI/HtrA2 in Parkinson's disease. Human Molecular Genetics 2005, 14:2099-2111.
-
(2005)
Human Molecular Genetics
, 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
Wolburg, H.11
Downward, J.12
Riess, O.13
Schulz, J.B.14
Kruger, R.15
-
27
-
-
0035097503
-
Clinical and pathological features of a Parkinsonian syndrome in a family with an ala53-to-thr alpha-synuclein mutation
-
Spira P.J., Sharpe D.M., Halliday G., Cavanagh J., Nicholson G.A. Clinical and pathological features of a Parkinsonian syndrome in a family with an ala53-to-thr alpha-synuclein mutation. Annals of Neurology 2001, 49:313-319.
-
(2001)
Annals of Neurology
, vol.49
, pp. 313-319
-
-
Spira, P.J.1
Sharpe, D.M.2
Halliday, G.3
Cavanagh, J.4
Nicholson, G.A.5
-
28
-
-
6844236385
-
Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations
-
Vaughan J.R., Farrer M.J., Wszolek Z.K., Gasser T., Durr A., Agid Y., Bonifati V., DeMichele G., Volpe G., Lincoln S., Breteler M., Meco G., Brice A., Marsden C.D., Hardy J., Wood N.W. Sequencing of the alpha-synuclein gene in a large series of cases of familial Parkinson's disease fails to reveal any further mutations. Human Molecular Genetics 1998, 7:751-753.
-
(1998)
Human Molecular Genetics
, vol.7
, pp. 751-753
-
-
Vaughan, J.R.1
Farrer, M.J.2
Wszolek, Z.K.3
Gasser, T.4
Durr, A.5
Agid, Y.6
Bonifati, V.7
DeMichele, G.8
Volpe, G.9
Lincoln, S.10
Breteler, M.11
Meco, G.12
Brice, A.13
Marsden, C.D.14
Hardy, J.15
Wood, N.W.16
-
29
-
-
72249109362
-
A novel LRRK2 mutation in a Mainland Chinese patient with familial Parkinson's disease
-
Wang L., Guo J.F., Nie L.L., Xu Q., Zuo X., Sun Q.Y., Yan X.X., Tang B.S. A novel LRRK2 mutation in a Mainland Chinese patient with familial Parkinson's disease. Neuroscience Letters 2010, 468:198-201.
-
(2010)
Neuroscience Letters
, vol.468
, pp. 198-201
-
-
Wang, L.1
Guo, J.F.2
Nie, L.L.3
Xu, Q.4
Zuo, X.5
Sun, Q.Y.6
Yan, X.X.7
Tang, B.S.8
-
30
-
-
77949912959
-
Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population
-
Wang L., Guo J.F., Zhang W.W., Xu Q., Zuo X., Shi C.H., Luo L.Z., Liu J., Hu L., Hu Y.C., She L., Jiang H., Yan X.X., Xia K., Pan Q., Tang B.S. Novel GIGYF2 gene variants in patients with Parkinson's disease in Chinese population. Neuroscience Letters 2010, 20:131-135.
-
(2010)
Neuroscience Letters
, vol.20
, pp. 131-135
-
-
Wang, L.1
Guo, J.F.2
Zhang, W.W.3
Xu, Q.4
Zuo, X.5
Shi, C.H.6
Luo, L.Z.7
Liu, J.8
Hu, L.9
Hu, Y.C.10
She, L.11
Jiang, H.12
Yan, X.X.13
Xia, K.14
Pan, Q.15
Tang, B.S.16
-
31
-
-
0033945827
-
Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease
-
Zhang J., Hattori N., Giladi N., Mizuno Y. Failure to find mutations in ubiquitin carboxy-terminal hydrolase L1 gene in familial Parkinson's disease. Parkinsonism and Related Disorders 2000, 6:199-200.
-
(2000)
Parkinsonism and Related Disorders
, vol.6
, pp. 199-200
-
-
Zhang, J.1
Hattori, N.2
Giladi, N.3
Mizuno, Y.4
-
32
-
-
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., Gasser T. Mutations in LRRK2 cause autosomal dominant Parkinsonism with pleomorphic pathology. Neuron 2004, 44:601-607.
-
(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..
|