-
1
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
-
Paisan-Ruiz C, Jain S, Evans EW, Gilks WP, Simon J, van der Brug M, de Munain AL, Aparicio S, Gil AM, Khan N, Johnson J, Martinez JR, Nicholl D, Carrera IM, Pena AS, de Silva R, Lees A, Marti-Masso JF, Perez-Tur J, Wood NW, Singleton AB (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
De Munain, A.L.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..
-
2
-
-
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 RJ, Calne DB, Stoessl AJ, Pfeiffer RF, Patenge N, Carbajal IC, Vieregge P, Asmus F, Muller-Myhsok B, Dickson DW, Meitinger T, Strom TM, Wszolek ZK, Gasser T (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
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
Muller-Myhsok, B.17
Dickson, D.W.18
Meitinger, T.19
Strom, T.M.20
Wszolek, Z.K.21
Gasser, T.22
more..
-
3
-
-
19944431081
-
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
-
Di Fonzo A, Rohe CF, Ferreira J, Chien HF, Vacca L, Stocchi F, Guedes L, Fabrizio E, Manfredi M, Vanacore N, Goldwurm S, Breedveld G, Sampaio C, Meco G, Barbosa E, Oostra BA, Bonifati V (2005) A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease. Lancet 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
-
4
-
-
19944432921
-
A common LRRK2 mutation in idiopathic Parkinson's disease
-
Gilks WP, Abou-Sleiman PM, Gandhi S, Jain S, Singleton A, Lees AJ, Shaw K, Bhatia KP, Bonifati V, Quinn NP, Lynch J, Healy DG, Holton JL, Revesz T, Wood NW (2005) A common LRRK2 mutation in idiopathic Parkinson's disease. Lancet 365:415-416
-
(2005)
Lancet
, vol.365
, pp. 415-416
-
-
Gilks, W.P.1
Abou-Sleiman, P.M.2
Gandhi, S.3
Jain, S.4
Singleton, A.5
Lees, A.J.6
Shaw, K.7
Bhatia, K.P.8
Bonifati, V.9
Quinn, N.P.10
Lynch, J.11
Healy, D.G.12
Holton, J.L.13
Revesz, T.14
Wood, N.W.15
-
5
-
-
20144387207
-
Identification of a novel LRRK2 mutation linked to autosomal dominant Parkinsonism: Evidence of a common founder across European populations
-
Kachergus J, Mata IF, Hulihan M, Taylor JP, Lincoln S, Aasly J, Gibson JM, Ross OA, Lynch T, Wiley J, Payami H, Nutt J, Maraganore DM, Czyzewski K, Styczynska M, Wszolek ZK, Farrer MJ, Toft M (2005) Identification of a novel LRRK2 mutation linked to autosomal dominant Parkinsonism: evidence of a common founder across European populations. Am J Hum Genet 76:672-680
-
(2005)
Am J Hum Genet
, vol.76
, pp. 672-680
-
-
Kachergus, J.1
Mata, I.F.2
Hulihan, M.3
Taylor, J.P.4
Lincoln, S.5
Aasly, J.6
Gibson, J.M.7
Ross, O.A.8
Lynch, T.9
Wiley, J.10
Payami, H.11
Nutt, J.12
Maraganore, D.M.13
Czyzewski, K.14
Styczynska, M.15
Wszolek, Z.K.16
Farrer, M.J.17
Toft, M.18
-
6
-
-
22544465257
-
LRRK2 haplotype analyses in European and North African families with Parkinson's disease: A common founder for the G2019S mutation dating from the 13th century
-
Lesage S, Leutenegger A-L, Ibanez P, Janin S, Lohmann E, Durr A, Brice A (2005) LRRK2 haplotype analyses in European and North African families with Parkinson's disease: a common founder for the G2019S mutation dating from the 13th century. Am J Hum Genet 77:330-332
-
(2005)
Am J Hum Genet
, vol.77
, pp. 330-332
-
-
Lesage, S.1
Leutenegger, A.-L.2
Ibanez, P.3
Janin, S.4
Lohmann, E.5
Durr, A.6
Brice, A.7
-
7
-
-
33645160640
-
The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor
-
Goldwurm S, Di Fonzo A, Simons EJ, Rohe CF, Zini M, Canesi M, Tesei S, Zecchinelli A, Antonini A, Mariani C, Meucci N, Sacilotto G, Sironi F, Salani G, Ferreira J, Chien HF, Fabrizio E, Vanacore N, Dalla Libera A, Stocchi F, Diroma C, Lamberti P, Sampaio C, Meco G, Barbosa E, Bertoli-Avella AM, Breedveld GJ, Oostra BA, Pezzoli G, Bonifati V (2005) The G6055A (G2019S) mutation in LRRK2 is frequent in both early and late onset Parkinson's disease and originates from a common ancestor. J Med Genet 42:e65
-
(2005)
J Med Genet
, vol.42
-
-
Goldwurm, S.1
Di Fonzo, A.2
Simons, E.J.3
Rohe, C.F.4
Zini, M.5
Canesi, M.6
Tesei, S.7
Zecchinelli, A.8
Antonini, A.9
Mariani, C.10
Meucci, N.11
Sacilotto, G.12
Sironi, F.13
Salani, G.14
Ferreira, J.15
Chien, H.F.16
Fabrizio, E.17
Vanacore, N.18
Dalla Libera, A.19
Stocchi, F.20
Diroma, C.21
Lamberti, P.22
Sampaio, C.23
Meco, G.24
Barbosa, E.25
Bertoli-Avella, A.M.26
Breedveld, G.J.27
Oostra, B.A.28
Pezzoli, G.29
Bonifati, V.30
more..
-
8
-
-
31344432937
-
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs
-
Lesage S, Durr A, Tazir M, Lohmann E, Leutenegger AL, Janin S, Pollak P, Brice A (2006) LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs. N Engl J Med 354:422-423
-
(2006)
N Engl J Med
, vol.354
, pp. 422-423
-
-
Lesage, S.1
Durr, A.2
Tazir, M.3
Lohmann, E.4
Leutenegger, A.L.5
Janin, S.6
Pollak, P.7
Brice, A.8
-
9
-
-
31344439221
-
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
-
Ozelius LJ, Senthil G, Saunders-Pullman R, Ohmann E, Deligtisch A, Tagliati M, Hunt AL, Klein C, Henick B, Hailpern SM, Lipton RB, Soto-Valencia J, Risch N, Bressman SB (2006) LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews. N Engl J Med 354:424-425
-
(2006)
N Engl J Med
, vol.354
, pp. 424-425
-
-
Ozelius, L.J.1
Senthil, G.2
Saunders-Pullman, R.3
Ohmann, E.4
Deligtisch, A.5
Tagliati, M.6
Hunt, A.L.7
Klein, C.8
Henick, B.9
Hailpern, S.M.10
Lipton, R.B.11
Soto-Valencia, J.12
Risch, N.13
Bressman, S.B.14
-
10
-
-
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 (2005) An LRRK2 mutation as a cause for the Parkinsonism in the original PARK8 family. Ann Neurol 57:918-921
-
(2005)
Ann Neurol
, 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
-
11
-
-
20644455323
-
The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients
-
Tan EK, Shen H, Tan LC, Farrer M, Yew K, Chua E, Jamora RD, Puvan K, Puong KY, Zhao Y, Pavanni R, Wong MC, Yih Y, Skipper L, Liu JJ (2005) The G2019S LRRK2 mutation is uncommon in an Asian cohort of Parkinson's disease patients. Neurosci Lett 384:327-329
-
(2005)
Neurosci Lett
, vol.384
, pp. 327-329
-
-
Tan, E.K.1
Shen, H.2
Tan, L.C.3
Farrer, M.4
Yew, K.5
Chua, E.6
Jamora, R.D.7
Puvan, K.8
Puong, K.Y.9
Zhao, Y.10
Pavanni, R.11
Wong, M.C.12
Yih, Y.13
Skipper, L.14
Liu, J.J.15
-
12
-
-
27744446035
-
The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease
-
Lu CS, Simons EJ, Wu-Chou YH, Di Fonzo A, Chang HC, Chen RS, Weng YH, Rohe CF, Breedveld GJ, Hattori N, Gasser T, Oostra BA, Bonifati V (2005) The LRRK2 I2012T, G2019S, and I2020T mutations are rare in Taiwanese patients with sporadic Parkinson's disease. Parkinsonism Relat Disord 11:521-522
-
(2005)
Parkinsonism Relat Disord
, vol.11
, pp. 521-522
-
-
Lu, C.S.1
Simons, E.J.2
Wu-Chou, Y.H.3
Di Fonzo, A.4
Chang, H.C.5
Chen, R.S.6
Weng, Y.H.7
Rohe, C.F.8
Breedveld, G.J.9
Hattori, N.10
Gasser, T.11
Oostra, B.A.12
Bonifati, V.13
-
13
-
-
28344457936
-
LRRK2 pathogenic substitutions in Parkinson's disease
-
Mata IF, Kachergus JM, Taylor JP, Lincoln S, Aasly J, Lynch T, Hulihan MM, Cobb SA, Wu RM, Lu CS, Lahoz C, Wszolek ZK, Farrer MJ (2005) LRRK2 pathogenic substitutions in Parkinson's disease. Neurogenetics 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
-
14
-
-
28544447258
-
Common variants of LRRK2 are not associated with sporadic Parkinson's disease
-
Biskup S, Mueller JC, Sharma M, Lichtner P, Zimprich A, Berg D, Wullner U, Illig T, Meitinger T, Gasser T (2005) Common variants of LRRK2 are not associated with sporadic Parkinson's disease. Ann Neurol 58:905-908
-
(2005)
Ann Neurol
, vol.58
, pp. 905-908
-
-
Biskup, S.1
Mueller, J.C.2
Sharma, M.3
Lichtner, P.4
Zimprich, A.5
Berg, D.6
Wullner, U.7
Illig, T.8
Meitinger, T.9
Gasser, T.10
-
15
-
-
28744453588
-
Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease
-
Skipper L, Li Y, Bonnard C, Pavanni R, Yih Y, Chua E, Sung WK, Tan L, Wong MC, Tan EK, Liu J (2005) Comprehensive evaluation of common genetic variation within LRRK2 reveals evidence for association with sporadic Parkinson's disease. Hum Mol Genet 14:3549-3556
-
(2005)
Hum Mol Genet
, vol.14
, pp. 3549-3556
-
-
Skipper, L.1
Li, Y.2
Bonnard, C.3
Pavanni, R.4
Yih, Y.5
Chua, E.6
Sung, W.K.7
Tan, L.8
Wong, M.C.9
Tan, E.K.10
Liu, J.11
-
16
-
-
24644431901
-
LRRK2 gene in Parkinson disease: Mutation analysis and case control association study
-
Paisan-Ruiz C, Lang AE, Kawarai T, Sato C, Salehi-Rad S, Fisman GK, Al-Khairallah T, St George-Hyslop P, Singleton A, Rogaeva E (2005) LRRK2 gene in Parkinson disease: mutation analysis and case control association study. Neurology 65:696-700
-
(2005)
Neurology
, vol.65
, pp. 696-700
-
-
Paisan-Ruiz, C.1
Lang, A.E.2
Kawarai, T.3
Sato, C.4
Salehi-Rad, S.5
Fisman, G.K.6
Al-Khairallah, T.7
St George-Hyslop, P.8
Singleton, A.9
Rogaeva, E.10
-
17
-
-
0026514953
-
Accuracy of clinical diagnosis of idiopathic Parkinson's disease: A clinicopathological study of 100 cases
-
Hughes AJ, Daniel SE, Kilford L, Lees AJ (1992) Accuracy of clinical diagnosis of idiopathic Parkinson's disease: a clinicopathological study of 100 cases. J Neurol Neurosurg Psychiatry 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
-
18
-
-
33645139675
-
Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease
-
Di Fonzo A, Tassorelli C, De Mari M, Chien HF, Ferreira J, Rohe CF, Riboldazzi G, Antonini A, Albani G, Mauro A, Marconi R, Abbruzzese G, Lopiano L, Fincati E, Guidi M, Marini P, Stocchi F, Onofrj M, Toni V, Tinazzi M, Fabbrini G, Lamberti P, Vanacore N, Meco G, Leitner P, Uitti RJ, Wszolek ZK, Gasser T, Simons EJ, Breedveld GJ, Goldwurm S, Pezzoli G, Sampaio C, Barbosa E, Martignoni E, Oostra BA, Bonifati V (2006) Comprehensive analysis of the LRRK2 gene in sixty families with Parkinson's disease. Eur J Hum Genet 14:322-331
-
(2006)
Eur J Hum Genet
, vol.14
, pp. 322-331
-
-
Di Fonzo, A.1
Tassorelli, C.2
De Mari, M.3
Chien, H.F.4
Ferreira, J.5
Rohe, C.F.6
Riboldazzi, G.7
Antonini, A.8
Albani, G.9
Mauro, A.10
Marconi, R.11
Abbruzzese, G.12
Lopiano, L.13
Fincati, E.14
Guidi, M.15
Marini, P.16
Stocchi, F.17
Onofrj, M.18
Toni, V.19
Tinazzi, M.20
Fabbrini, G.21
Lamberti, P.22
Vanacore, N.23
Meco, G.24
Leitner, P.25
Uitti, R.J.26
Wszolek, Z.K.27
Gasser, T.28
Simons, E.J.29
Breedveld, G.J.30
Goldwurm, S.31
Pezzoli, G.32
Sampaio, C.33
Barbosa, E.34
Martignoni, E.35
Oostra, B.A.36
Bonifati, V.37
more..
-
19
-
-
17044419163
-
Genetic association studies of complex traits: Design and analysis issues
-
Newton-Cheh C, Hirschhorn JN (2005) Genetic association studies of complex traits: design and analysis issues. Mutat Res 573:54-69
-
(2005)
Mutat Res
, vol.573
, pp. 54-69
-
-
Newton-Cheh, C.1
Hirschhorn, J.N.2
-
20
-
-
24644497562
-
LRRK2 mutations in Parkinson disease
-
Farrer M, Stone J, Mata IF, Lincoln S, Kachergus J, Hulihan M, Strain KJ, Maraganore DM (2005) LRRK2 mutations in Parkinson disease. Neurology 65:738-740
-
(2005)
Neurology
, vol.65
, pp. 738-740
-
-
Farrer, M.1
Stone, J.2
Mata, I.F.3
Lincoln, S.4
Kachergus, J.5
Hulihan, M.6
Strain, K.J.7
Maraganore, D.M.8
-
21
-
-
28044460070
-
Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity
-
U S A
-
West AB, Moore DJ, Biskup S, Bugayenko A, Smith WW, Ross CA, Dawson VL, Dawson TM (2005) Parkinson's disease-associated mutations in leucine-rich repeat kinase 2 augment kinase activity. Proc Natl Acad Sci U S A 102:16842-16847
-
(2005)
Proc Natl Acad Sci
, vol.102
, pp. 16842-16847
-
-
West, A.B.1
Moore, D.J.2
Biskup, S.3
Bugayenko, A.4
Smith, W.W.5
Ross, C.A.6
Dawson, V.L.7
Dawson, T.M.8
-
22
-
-
31144443248
-
The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity
-
Gloeckner CJ, Kinkl N, Schumacher A, Braun RJ, O'Neill E, Meitinger T, Kolch W, Prokisch H, Ueffing M (2006) The Parkinson disease causing LRRK2 mutation I2020T is associated with increased kinase activity. Hum Mol Genet 15:223-232
-
(2006)
Hum Mol Genet
, vol.15
, pp. 223-232
-
-
Gloeckner, C.J.1
Kinkl, N.2
Schumacher, A.3
Braun, R.J.4
O'Neill, E.5
Meitinger, T.6
Kolch, W.7
Prokisch, H.8
Ueffing, M.9
|