-
1
-
-
0345490853
-
A wide variability of mutations in the parkin gene is responsible for autosomal recessive juvenile parkinsonism in Europe
-
the French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's disease
-
Abbas N, Lücking CB, Richard S, Durr A, Bonifati V, De Michele G, Bouley S, Vaughan JR, Gasser T, Marconi R, Broussolle E, Brefel-Courbon C, Harhangi BS, Oostra BA, Fabrizio E, Bohme GA, Pradier L, Wood NW, Filla A, Meco G, Denefle P, Agid Y, Brice A, the French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's Disease (1999) A wide variability of mutations in the parkin gene is responsible for autosomal recessive juvenile parkinsonism in Europe. French Parkinson's Disease Genetics Study Group and the European Consortium on Genetic Susceptibility in Parkinson's disease. Hum Mol Genet 8: 567-574
-
(1999)
Hum Mol Genet
, vol.8
, pp. 567-574
-
-
Abbas, N.1
Lücking, C.B.2
Richard, S.3
Durr, A.4
Bonifati, V.5
De Michele, G.6
Bouley, S.7
Vaughan, J.R.8
Gasser, T.9
Marconi, R.10
Broussolle, E.11
Brefel-Courbon, C.12
Harhangi, B.S.13
Oostra, B.A.14
Fabrizio, E.15
Bohme, G.A.16
Pradier, L.17
Wood, N.W.18
Filla, A.19
Meco, G.20
Denefle, P.21
Agid, Y.22
Brice, A.23
more..
-
2
-
-
0037428241
-
Mutations in the DJ-1 gene associated with autosomal recessive early-onset parkinsonism
-
Bonifati V, Rizzu P, van Baren MJ, Schaap O, Breedveld GJ, Krieger E, Dekker MCJ, Squitieri F, Ibanez P, Joosse M, van Dongen JW, Vanacore N, van Swieten JC, Brice A, Meco G, van Duijn CM, Oostra BA, Heutink P (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.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
-
3
-
-
19944431081
-
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
-
the Italian Parkinson Genetic Network
-
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, the Italian Parkinson Genetic Network (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
-
-
0037180520
-
SCA-2 presenting as parkinsonism in an Alberta family: Clinical, genetic, and PET findings
-
Furtado S, Farrer M, Tsuboi Y, Klimek RN, de la Fuente-Fernandez R, Hussey J, Lockhart P, Calne DB, Suchowersky O, Stoessl AJ, Wszolek ZK (2002) SCA-2 presenting as parkinsonism in an Alberta family: clinical, genetic, and PET findings. Neurology 59: 1625-1627
-
(2002)
Neurology
, vol.59
, pp. 1625-1627
-
-
Furtado, S.1
Farrer, M.2
Tsuboi, Y.3
Klimek, R.N.4
De La Fuente-Fernandez, R.5
Hussey, J.6
Lockhart, P.7
Calne, D.B.8
Suchowersky, O.9
Stoessl, A.J.10
Wszolek, Z.K.11
-
5
-
-
0034718577
-
Spinocerebellar ataxia type 2 (SCA2) with parkinsonism in ethnic Chinese
-
Gwinn-Hardy K, Chen JY, Liu HC, Liu TY, Boss M, Seltzer W, Adam A, Singleton A, Koroshetz W, Waters C, Hardy J, Farrer M (2000) Spinocerebellar ataxia type 2 (SCA2) with parkinsonism in ethnic Chinese. Neurology 55: 800-805
-
(2000)
Neurology
, vol.55
, pp. 800-805
-
-
Gwinn-Hardy, K.1
Chen, J.Y.2
Liu, H.C.3
Liu, T.Y.4
Boss, M.5
Seltzer, W.6
Adam, A.7
Singleton, A.8
Koroshetz, W.9
Waters, C.10
Hardy, J.11
Farrer, M.12
-
6
-
-
0035118860
-
Spinocerebellar ataxia type 3 phenotypically resembling Parkinson's disease in a black family
-
Gwinn-Hardy K, Singleton A, O'Suilleabhain P, Boss M, Nicholl D, Adam A, Hussey J, Critchley P, Hardy J, Farrer M (2001) Spinocerebellar ataxia type 3 phenotypically resembling Parkinson's disease in a black family. Arch Neurol 58: 296-299
-
(2001)
Arch Neurol
, vol.58
, pp. 296-299
-
-
Gwinn-Hardy, K.1
Singleton, A.2
O'Suilleabhain, P.3
Boss, M.4
Nicholl, D.5
Adam, A.6
Hussey, J.7
Critchley, P.8
Hardy, J.9
Farrer, M.10
-
7
-
-
4444237208
-
Novel PINK1 mutations in early-onset parkinsonism
-
Hatano Y, Li Y, Sato K, Asakawa S, Yamamura Y, Tomiyama H, Yoshino H, Asahina M, Kobayashi S, Hassin-Baer S, Lu CS, Ng AR, Rosales RL, Shimizu N, Toda T, Mizuno Y, Hattori N (2004) Novel PINK1 mutations in early-onset parkinsonism. Ann Neurol 56: 424-427
-
(2004)
Ann Neurol
, vol.56
, pp. 424-427
-
-
Hatano, Y.1
Li, Y.2
Sato, K.3
Asakawa, S.4
Yamamura, Y.5
Tomiyama, H.6
Yoshino, H.7
Asahina, M.8
Kobayashi, S.9
Hassin-Baer, S.10
Lu, C.S.11
Ng, A.R.12
Rosales, R.L.13
Shimizu, N.14
Toda, T.15
Mizuno, Y.16
Hattori, N.17
-
8
-
-
18244412384
-
Molecular genetic analysis of a novel parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: Evidence fro variable homozygous deletion in the parkin gene in affected individuals
-
Hattori N, Kidata T, Matsumine H, Asakawa S, Yamamura Y, Yoshino H, Kobayashi T, Yokochi M, Wang M, Yoritaka A, Kondo T, Kuzuhara S, Nakamura S, Shimizu N, Mizuno Y (1998) Molecular genetic analysis of a novel parkin gene in Japanese families with autosomal recessive juvenile parkinsonism: evidence fro variable homozygous deletion in the parkin gene in affected individuals. Ann Neurol 44: 935-941
-
(1998)
Ann Neurol
, vol.44
, pp. 935-941
-
-
Hattori, N.1
Kidata, T.2
Matsumine, H.3
Asakawa, S.4
Yamamura, Y.5
Yoshino, H.6
Kobayashi, T.7
Yokochi, M.8
Wang, M.9
Yoritaka, A.10
Kondo, T.11
Kuzuhara, S.12
Nakamura, S.13
Shimizu, N.14
Mizuno, Y.15
-
9
-
-
0032499264
-
Mutations in parkin gene cause autosomal recessive juvenile parkinsonism
-
Kidata T, Asakawa S, Hattori N, Matsumine H, Yamamura Y, Minishima S, Yokochi M, Mizuno Y, Shimizu N (1998) Mutations in parkin gene cause autosomal recessive juvenile parkinsonism. Nature 392: 605-608
-
(1998)
Nature
, vol.392
, pp. 605-608
-
-
Kidata, T.1
Asakawa, S.2
Hattori, N.3
Matsumine, H.4
Yamamura, Y.5
Minishima, S.6
Yokochi, M.7
Mizuno, Y.8
Shimizu, N.9
-
10
-
-
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, Chernova T, Dehejia A, Lavedan C, Gasser T, Steinbach PJ, Wilkinson KD, Polymeropoulos MH (1998) The ubiquitin pathway in Parkinson's disease. Nature 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
Dehejia, A.11
Lavedan, C.12
Gasser, T.13
Steinbach, P.J.14
Wilkinson, K.D.15
Polymeropoulos, M.H.16
-
11
-
-
0035241251
-
Clinical and genetic studies on familial parkinsonism: The first report on a parkin gene mutation in a Taiwanese family
-
Lu CS, Wu JC, Tsai CH, Chen RS, Chou Wu YH, Hattori N, Yoshino H, Mizuno Y (2001) Clinical and genetic studies on familial parkinsonism: the first report on a parkin gene mutation in a Taiwanese family. Mov Disord 16: 164-166
-
(2001)
Mov Disord
, vol.16
, pp. 164-166
-
-
Lu, C.S.1
Wu, J.C.2
Tsai, C.H.3
Chen, R.S.4
Chou Wu, Y.H.5
Hattori, N.6
Yoshino, H.7
Mizuno, Y.8
-
12
-
-
0036764842
-
Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2
-
Lu CS, Wu Chou YH, Yen TC, Tsai CH, Chen RS, Chang HC (2002) Dopa-responsive parkinsonism phenotype of spinocerebellar ataxia type 2. Mov Disord 17: 1046-1051
-
(2002)
Mov Disord
, vol.17
, pp. 1046-1051
-
-
Lu, C.S.1
Wu Chou, Y.H.2
Yen, T.C.3
Tsai, C.H.4
Chen, R.S.5
Chang, H.C.6
-
13
-
-
0347985269
-
The Parkinsonian phenotype of spinocerebellar ataxia type 2
-
Lu CS, Wu Chou YH, Kuo PC, Chang HC, Weng YH (2004) The Parkinsonian phenotype of spinocerebellar ataxia type 2. Arch Neurol 61: 35-38
-
(2004)
Arch Neurol
, vol.61
, pp. 35-38
-
-
Lu, C.S.1
Wu Chou, Y.H.2
Kuo, P.C.3
Chang, H.C.4
Weng, Y.H.5
-
14
-
-
0342368772
-
Association between early onset Parkinson's disease and mutations in the parkin gene
-
for the European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group
-
Lücking CB, Dürr A, Bonifati V, Vaughan J, De Michele G, Gasser T, Harhangi BS, Meco G, Denefle P, Wood NW, Filla A, Agid Y, Brice A, for the European Consortium on Genetic Susceptibility in Parkinson's Disease and the French Parkinson's Disease Genetics Study Group (2000) Association between early onset Parkinson's disease and mutations in the parkin gene. N Engl J Med 342: 1560-1567
-
(2000)
N Engl J Med
, vol.342
, pp. 1560-1567
-
-
Lücking, C.B.1
Dürr, 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
Filla, A.11
Agid, Y.12
Brice, A.13
-
15
-
-
19944432606
-
Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease
-
for the Parkinson's Study Group-PROGENI investigators
-
Nicolas WC, Pankratz N, Hernandez D, Paisan-Ruiz C, Jain S, Halter CA, Michaels V, Reed T, Rudolph A, Shults CW, Singleton A, Foroud T, for the Parkinson's Study Group-PROGENI investigators (2005) Genetic screening for a single common LRRK2 mutation in familial Parkinson's disease. Lancet 365: 410-412
-
(2005)
Lancet
, vol.365
, pp. 410-412
-
-
Nicolas, W.C.1
Pankratz, N.2
Hernandez, D.3
Paisan-Ruiz, C.4
Jain, S.5
Halter, C.A.6
Michaels, V.7
Reed, T.8
Rudolph, A.9
Shults, C.W.10
Singleton, A.11
Foroud, T.12
-
16
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8 linked Parkinson disease
-
Paisan-Ruiz C, Jain S, Evan 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 disease. Neuron 44: 595-600
-
(2004)
Neuron
, vol.44
, pp. 595-600
-
-
Paisan-Ruiz, C.1
Jain, S.2
Evan, 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..
-
17
-
-
0030744876
-
Mutation in the a-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, Bubenstein J, Boyer R, Stenroos ES, Chandrasekharappa S, Athanassiadou A, Papapetropoulos T, Johnson WG, Lazzarini AM, Duvoisin RC, Di Iorio G, Golbe LI, Nussbaum RL (1997) Mutation in the a-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
Bubenstein, 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..
-
18
-
-
0035199626
-
Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism
-
Shan DI, Soong BW, Sun CM, Lee SJ, Liao KK, Liu RS (2001) Spinocerebellar ataxia type 2 presenting as familial levodopa-responsive parkinsonism. Ann Neurol 50: 812-815
-
(2001)
Ann Neurol
, vol.50
, pp. 812-815
-
-
Shan, D.I.1
Soong, B.W.2
Sun, C.M.3
Lee, S.J.4
Liao, K.K.5
Liu, R.S.6
-
19
-
-
0036765066
-
Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians
-
Subramony SH, Hernandez D, Adam A, Smith-Jefferson S, Hussey J, Gwinn-Hardy K, Lynch T, McDaniel O, Hardy J, Farrer M, Singleton A (2002) Ethnic differences in the expression of neurodegenerative disease: Machado-Joseph disease in Africans and Caucasians. Mov Disord 17: 1068-1071
-
(2002)
Mov Disord
, vol.17
, pp. 1068-1071
-
-
Subramony, S.H.1
Hernandez, D.2
Adam, A.3
Smith-Jefferson, S.4
Hussey, J.5
Gwinn-Hardy, K.6
Lynch, T.7
McDaniel, O.8
Hardy, J.9
Farrer, M.10
Singleton, A.11
-
20
-
-
0029090063
-
Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: Confirmation of 14q CAG expansion
-
Tuite PJ, Rogaeva EA, St George-Hyslop PH, Lang AE (1995) Dopa-responsive parkinsonism phenotype of Machado-Joseph disease: confirmation of 14q CAG expansion. Ann Neurol 38: 684-687
-
(1995)
Ann Neurol
, vol.38
, pp. 684-687
-
-
Tuite, P.J.1
Rogaeva, E.A.2
St. George-Hyslop, P.H.3
Lang, A.E.4
-
21
-
-
2442668926
-
Hereditary early-onset Parkinson's disease caused by mutations in PINK1
-
Valente EM, Abou-Sleiman PM, Caputo V, Muqit MMK, Harvey K, Gispert S, Ali Z, Del Turco D, Bentivoglio AR, Healy DG, Albanese A, Nussbaum R, Gonzalez-Maldonado R, Deller T, Salvi S, Cortelli P, Gilks WP, Latchman DS, Harvey RJ, Dallapiccola B, Auburger G, Wood NW (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.K.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
Gonzalez-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..
-
22
-
-
18744377764
-
Clinical 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations
-
Wu RM, Shan DE, Sun CM, Liu RS, Hwu WL, Tai CH, Hussey J, West A, Gwinn-Hardy K, Hardy J, Chen J, Farrer M, Lincoln S (2002) Clinical 18F-dopa PET, and genetic analysis of an ethnic Chinese kindred with early-onset parkinsonism and parkin gene mutations. Mov Disord 17: 670-675
-
(2002)
Mov Disord
, vol.17
, pp. 670-675
-
-
Wu, R.M.1
Shan, D.E.2
Sun, C.M.3
Liu, R.S.4
Hwu, W.L.5
Tai, C.H.6
Hussey, J.7
West, A.8
Gwinn-Hardy, K.9
Hardy, J.10
Chen, J.11
Farrer, M.12
Lincoln, S.13
-
23
-
-
12144254582
-
Parkin mutations and early-onset parkinsonism in a Taiwanese cohort
-
Wu RM, Bounds R, Lincoln S, Hulihan M, Lin CH, Hwu WL, Chen J, Gwinn-Hardy K, Farrer M (2005) Parkin mutations and early-onset parkinsonism in a Taiwanese cohort. Arch Neurol 62: 82-87
-
(2005)
Arch Neurol
, vol.62
, pp. 82-87
-
-
Wu, R.M.1
Bounds, R.2
Lincoln, S.3
Hulihan, M.4
Lin, C.H.5
Hwu, W.L.6
Chen, J.7
Gwinn-Hardy, K.8
Farrer, M.9
-
24
-
-
0036169407
-
Dopamine transporter concentration is reduced in asymptomatic Machado-Joseph disease gene carriers
-
Yen TC, Tzen KY, Chen MC, Wu Chou YH, Chen RS, Chen CJ, Wey SP, Ting G, Lu CS (2002) Dopamine transporter concentration is reduced in asymptomatic Machado-Joseph disease gene carriers. JNM 43: 153-159
-
(2002)
JNM
, vol.43
, pp. 153-159
-
-
Yen, T.C.1
Tzen, K.Y.2
Chen, M.C.3
Wu Chou, Y.H.4
Chen, R.S.5
Chen, C.J.6
Wey, S.P.7
Ting, G.8
Lu, C.S.9
-
25
-
-
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, Storm 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
Storm, T.M.20
Wszolek, Z.K.21
Gasser, T.22
more..
|