-
1
-
-
42549125512
-
Familial PD - Genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease
-
10.1111/j.1365-2990.2008.00952.x 18447897
-
Schiesling C Kieper N Seidel K Krüger R Familial PD - genetics, clinical phenotype and neuropathology in relation to the common sporadic form of the disease Neuropathol Appl Neurobiol 2008, 34:255-271 10.1111/ j.1365-2990.2008.00952.x 18447897
-
(2008)
Neuropathol Appl Neurobiol
, vol.34
, pp. 255-271
-
-
Schiesling, C.1
Kieper, N.2
Seidel, K.3
Krüger, R.4
-
2
-
-
8844233579
-
Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology
-
10.1016/j.neuron.2004.11.005 15541309
-
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 Mutations in LRRK2 cause autosomal-dominant parkinsonism with pleomorphic pathology Neuron 2004, 44:601-607 10.1016/ j.neuron.2004.11.005 15541309
-
(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
-
-
8844266996
-
Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease
-
10.1016/j.neuron.2004.10.023 15541308
-
Paisan-Ruiz C Jain S Evans EW Gilks WP Simon J Brug van der M Lopez de Munain A 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 Cloning of the gene containing mutations that cause PARK8-linked Parkinson's disease Neuron 2004, 44:595-600 10.1016/ j.neuron.2004.10.023 15541308
-
(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
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..
-
4
-
-
33644822969
-
Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease
-
16251215
-
Berg D Schweitzer K Leitner P Zimprich A Lichtner P Belcredi P Brussel T Schulte C Maass S Nagele T Type and frequency of mutations in the LRRK2 gene in familial and sporadic Parkinson's disease Brain 2005, 128:3000-3011 16251215
-
(2005)
Brain
, vol.128
, pp. 3000-3011
-
-
Berg, D.1
Schweitzer, K.2
Leitner, P.3
Zimprich, A.4
Lichtner, P.5
Belcredi, P.6
Brussel, T.7
Schulte, C.8
Maass, S.9
Nagele, T.10
-
5
-
-
31344432937
-
LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs
-
10.1056/NEJMc055540 16436781
-
Lesage S Durr A Tazir M Lohmann E Leutenegger AL Janin S Pollak P Brice A LRRK2 G2019S as a cause of Parkinson's disease in North African Arabs N Engl J Med 2006, 354:422-423 10.1056/NEJMc055540 16436781
-
(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
-
6
-
-
50049104725
-
Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study
-
International LRRK2 Consortium 10.1016/S1474-4422(08)70117-0 18539534
-
Healy DG Falchi M O'Sullivan SS Bonifati V Durr A Bressman S Brice A Aasly J Zabetian CP Goldwurm S Ferreira JJ Tolosa E Kay DM Klein C Williams DR Marras C Lang AE Wszolek ZK Berciano J Schapira AH Lynch T Bhatia KP Gasser T Lees AJ Wood NW International LRRK2 Consortium Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: A case-control study Lancet Neurol 2008, 7:583-590 10.1016/S1474-4422(08)70117-0 18539534
-
(2008)
Lancet Neurol
, vol.7
, pp. 583-590
-
-
Healy, D.G.1
Falchi, M.2
O'Sullivan, S.S.3
Bonifati, V.4
Durr, A.5
Bressman, S.6
Brice, A.7
Aasly, J.8
Zabetian, C.P.9
Goldwurm, S.10
Ferreira, J.J.11
Tolosa, E.12
Kay, D.M.13
Klein, C.14
Williams, D.R.15
Marras, C.16
Lang, A.E.17
Wszolek, Z.K.18
Berciano, J.19
Schapira, A.H.20
Lynch, T.21
Bhatia, K.P.22
Gasser, T.23
Lees, A.J.24
Wood, N.W.25
more..
-
7
-
-
48849092336
-
LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: A case-control genetic study
-
10.1016/S1474-4422(08)70116-9 18539535
-
Hulihan MM Ishihara-Paul L Kachergus J Warren L Amouri R Elango R Prinjha RK Upmanyu R Kefi M Zouari M Sassi SB Yahmed SB El Euch Fayeche G Matthews PM Middleton LT Gibson RA Hentati F Farrer MJ LRRK2 Gly2019Ser penetrance in Arab-Berber patients from Tunisia: A case-control genetic study Lancet Neurol 2008, 7:591-594 10.1016/ S1474-4422(08)70116-9 18539535
-
(2008)
Lancet Neurol
, vol.7
, pp. 591-594
-
-
Hulihan, M.M.1
Ishihara-Paul, L.2
Kachergus, J.3
Warren, L.4
Amouri, R.5
Elango, R.6
Prinjha, R.K.7
Upmanyu, R.8
Kefi, M.9
Zouari, M.10
Sassi, S.B.11
Yahmed, S.B.12
El Euch Fayeche, G.13
Matthews, P.M.14
Middleton, L.T.15
Gibson, R.A.16
Hentati, F.17
Farrer, M.J.18
-
8
-
-
19944431081
-
A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease
-
15680456
-
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 A frequent LRRK2 gene mutation associated with autosomal dominant Parkinson's disease Lancet 2005, 365:412-415 15680456
-
(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
-
9
-
-
33646151866
-
LRRK2 in Parkinson's disease: Protein domains and functional insights
-
10.1016/j.tins.2006.03.006 16616379
-
Mata IF Wedemeyer WJ Farrer MJ Taylor JP Gallo KA LRRK2 in Parkinson's disease: Protein domains and functional insights Trends Neurosci 2006, 29:286-293 10.1016/j.tins.2006.03.006 16616379
-
(2006)
Trends Neurosci
, vol.29
, pp. 286-293
-
-
Mata, I.F.1
Wedemeyer, W.J.2
Farrer, M.J.3
Taylor, J.P.4
Gallo, K.A.5
-
10
-
-
34147125812
-
Evaluation of LRRK2 G2019S penetrance
-
10.1212/01.wnl.0000254483.19854.ef 17215492
-
Goldwurm S Zini M Mariani L Tesei S Miceli R Sironi F Clementi M Bonifati V Pezzoli G Evaluation of LRRK2 G2019S penetrance Neurology 2007, 68:1141-1143 10.1212/01.wnl.0000254483.19854.ef 17215492
-
(2007)
Neurology
, vol.68
, pp. 1141-1143
-
-
Goldwurm, S.1
Zini, M.2
Mariani, L.3
Tesei, S.4
Miceli, R.5
Sironi, F.6
Clementi, M.7
Bonifati, V.8
Pezzoli, G.9
-
12
-
-
31344439221
-
LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews
-
10.1056/NEJMc055509 16436782
-
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 LRRK2 G2019S as a cause of Parkinson's disease in Ashkenazi Jews N Engl J Med 2006, 354:424-425 10.1056/NEJMc055509 16436782
-
(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
-
13
-
-
0037151382
-
On the use of familial aggregation in population-based case probands for calculating penetrance
-
12189225
-
Begg CB On the use of familial aggregation in population-based case probands for calculating penetrance J Natl Cancer Inst 2002, 94:221-226 12189225
-
(2002)
J Natl Cancer Inst
, vol.94
, pp. 221-226
-
-
Begg, C.B.1
-
14
-
-
0030744876
-
Mutation in the alpha-synuclein gene identified in families with Parkinson's disease
-
10.1126/science.276.5321.2045 9197268
-
Polymeropoulos MH Lavedan C Leroy E Ide SE Dehejia A Dutra A Pike B Root H Rubenstein J Boyer R Stenroos ES Chandrasekharappa S Athanassiadou A Papapetropoulos T Johnson WG Lazzarini AM Duvoisin RC Di Iorio G Golbe LI Nussbaum RL Mutation in the alpha-synuclein gene identified in families with Parkinson's disease Science 1997, 276:2045-2047 10.1126/ science.276.5321.2045 9197268
-
(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..
-
15
-
-
24644462201
-
Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers
-
10.1002/ana.20587 16130111
-
Pramstaller PP Schlossmacher MG Jacques TS Scaravilli F Eskelson C Pepivani I Hedrich K Adel S Gonzales-McNeal M Hilker R Kramer PL Klein C Lewy body Parkinson's disease in a large pedigree with 77 Parkin mutation carriers Ann Neurol 2005, 58:411-422 10.1002/ana.20587 16130111
-
(2005)
Ann Neurol
, vol.58
, pp. 411-422
-
-
Pramstaller, P.P.1
Schlossmacher, M.G.2
Jacques, T.S.3
Scaravilli, F.4
Eskelson, C.5
Pepivani, I.6
Hedrich, K.7
Adel, S.8
Gonzales-McNeal, M.9
Hilker, R.10
Kramer, P.L.11
Klein, C.12
-
16
-
-
0034237311
-
Cross-sectional prevalence survey of idiopathic Parkinson's disease and Parkinsonism in London
-
27420 10875828 10.1136/bmj.321.7252.21
-
Schrag A Ben-Shlomo Y Quinn NP Cross-sectional prevalence survey of idiopathic Parkinson's disease and Parkinsonism in London BMJ 2000, 321:21-22 27420 10875828 10.1136/bmj.321.7252.21
-
(2000)
BMJ
, vol.321
, pp. 21-22
-
-
Schrag, A.1
Ben-Shlomo, Y.2
Quinn, N.P.3
-
17
-
-
33745099053
-
Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: Role of a single hit?
-
10.1001/archneur.63.6.833 16769864
-
Hedrich K Hagenah J Djarmati A Hiller A Lohnau T Lasek K Grunewald A Hilker R Steinlechner S Boston H Kock N Schneider-Gold C Kress W Siebner H Binkofski F Lencer R Munchau A Klein C Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: Role of a single hit? Arch Neurol 2006, 63:833-838 10.1001/ archneur.63.6.833 16769864
-
(2006)
Arch Neurol
, vol.63
, pp. 833-838
-
-
Hedrich, K.1
Hagenah, J.2
Djarmati, A.3
Hiller, A.4
Lohnau, T.5
Lasek, K.6
Grunewald, A.7
Hilker, R.8
Steinlechner, S.9
Boston, H.10
Kock, N.11
Schneider-Gold, C.12
Kress, W.13
Siebner, H.14
Binkofski, F.15
Lencer, R.16
Munchau, A.17
Klein, C.18
-
18
-
-
34250372427
-
Deciphering the role of heterozygous mutations in genes associated with parkinsonism
-
10.1016/S1474-4422(07)70174-6 17582365
-
Klein C Lohmann-Hedrich K Rogaeva E Schlossmacher MG Lang AE Deciphering the role of heterozygous mutations in genes associated with parkinsonism Lancet Neurol 2007, 6:652-662 10.1016/S1474-4422(07)70174-6 17582365
-
(2007)
Lancet Neurol
, vol.6
, pp. 652-662
-
-
Klein, C.1
Lohmann-Hedrich, K.2
Rogaeva, E.3
Schlossmacher, M.G.4
Lang, A.E.5
-
19
-
-
42049094200
-
Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
-
10.1212/01.wnl.0000304044.22253.03 18337586
-
Haugarvoll K Rademakers R Kachergus JM Nuytemans K Ross OA Gibson JM Tan EK Gaig C Tolosa E Goldwurm S Guidi M Riboldazzi G Brown L Walter U Benecke R Berg D Gasser T Theuns J Pals P Cras P Paul De Deyn P Engelborghs S Pickut B Uitti RJ Foroud T Nichols WC Hagenah J Klein C Samii A Zabetian CP Bonifati V Van Broeckhoven C Farrer MJ Wszolek ZK Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease Neurology 2008, 70:1456-1460 10.1212/01.wnl.0000304044.22253.03 18337586
-
(2008)
Neurology
, vol.70
, pp. 1456-1460
-
-
Haugarvoll, K.1
Rademakers, R.2
Kachergus, J.M.3
Nuytemans, K.4
Ross, O.A.5
Gibson, J.M.6
Tan, E.K.7
Gaig, C.8
Tolosa, E.9
Goldwurm, S.10
Guidi, M.11
Riboldazzi, G.12
Brown, L.13
Walter, U.14
Benecke, R.15
Berg, D.16
Gasser, T.17
Theuns, J.18
Pals, P.19
Cras, P.20
Paul De Deyn, P.21
Engelborghs, S.22
Pickut, B.23
Uitti, R.J.24
Foroud, T.25
Nichols, W.C.26
Hagenah, J.27
Klein, C.28
Samii, A.29
Zabetian, C.P.30
Bonifati, V.31
Van Broeckhoven, C.32
Farrer, M.J.33
Wszolek, Z.K.34
more..
-
20
-
-
33746869343
-
Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease
-
10.1001/jama.296.6.661 16896109
-
Maraganore DM de Andrade M Elbaz A Farrer MJ Ioannidis JP Kruger R Rocca WA Schneider NK Lesnick TG Lincoln SJ Hulihan MM Aasly JO Ashizawa T Chartier-Harlin MC Checkoway H Ferrarese C Hadjigeorgiou G Hattori N Kawakami H Lambert JC Lynch T Mellick GD Papapetropoulos S Parsian A Quattrone A Riess O Tan EK Van Broeckhoven C Collaborative analysis of alpha-synuclein gene promoter variability and Parkinson disease JAMA 2006, 296:661-670 10.1001/jama.296.6.661 16896109
-
(2006)
JAMA
, vol.296
, pp. 661-670
-
-
Maraganore, D.M.1
de Andrade, M.2
Elbaz, A.3
Farrer, M.J.4
Ioannidis, J.P.5
Kruger, R.6
Rocca, W.A.7
Schneider, N.K.8
Lesnick, T.G.9
Lincoln, S.J.10
Hulihan, M.M.11
Aasly, J.O.12
Ashizawa, T.13
Chartier-Harlin, M.C.14
Checkoway, H.15
Ferrarese, C.16
Hadjigeorgiou, G.17
Hattori, N.18
Kawakami, H.19
Lambert, J.C.20
Lynch, T.21
Mellick, G.D.22
Papapetropoulos, S.23
Parsian, A.24
Quattrone, A.25
Riess, O.26
Tan, E.K.27
Van Broeckhoven, C.28
more..
-
21
-
-
43249120160
-
Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain
-
10.1096/fj.07-9348com 18162487
-
Fuchs J Tichopad A Golub Y Munz M Schweitzer KJ Wolf B Berg D Mueller JC Gasser T Genetic variability in the SNCA gene influences alpha-synuclein levels in the blood and brain FASEB J 2008, 22:1327-1334 10.1096/ fj.07-9348com 18162487
-
(2008)
FASEB J
, vol.22
, pp. 1327-1334
-
-
Fuchs, J.1
Tichopad, A.2
Golub, Y.3
Munz, M.4
Schweitzer, K.J.5
Wolf, B.6
Berg, D.7
Mueller, J.C.8
Gasser, T.9
-
22
-
-
33750725402
-
Digenic parkinsonism: Investigation of the synergistic effects of PRKN and LRRK2
-
10.1016/j.neulet.2006.06.068 17095157
-
Dächsel JC Mata IF Ross OA Taylor JP Lincoln SJ Hinkle KM Huerta Ribacoba R Blazquez M Alvarez V Farrer MJ Digenic parkinsonism: investigation of the synergistic effects of PRKN and LRRK2 Neurosci Lett 2006, 410:80-84 10.1016/j.neulet.2006.06.068 17095157
-
(2006)
Neurosci Lett
, vol.410
, pp. 80-84
-
-
Dächsel, J.C.1
Mata, I.F.2
Ross, O.A.3
Taylor, J.P.4
Lincoln, S.J.5
Hinkle, K.M.6
Huerta Ribacoba, R.7
Blazquez, M.8
Alvarez, V.9
Farrer, M.J.10
-
23
-
-
58149106468
-
LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation
-
18644660
-
Marras C Klein C Lang AE Wakutani Y Moreno D Sato C Yip E Munhoz RP Lohmann K Djarmati A Bi A Rogaeva E LRRK2 and Parkin mutations in a family with parkinsonism-Lack of genotype-phenotype correlation Neurobiol Aging 2008 18644660
-
(2008)
Neurobiol Aging
-
-
Marras, C.1
Klein, C.2
Lang, A.E.3
Wakutani, Y.4
Moreno, D.5
Sato, C.6
Yip, E.7
Munhoz, R.P.8
Lohmann, K.9
Djarmati, A.10
Bi, A.11
Rogaeva, E.12
-
24
-
-
33750978980
-
No definitive evidence for a role for the environment in the etiology of Parkinson's disease
-
10.1002/mds.21067 16941458
-
Hardy J No definitive evidence for a role for the environment in the etiology of Parkinson's disease Mov Disord 2006, 21:1790-1791 10.1002/ mds.21067 16941458
-
(2006)
Mov Disord
, vol.21
, pp. 1790-1791
-
-
Hardy, J.1
|