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mutation patient disease parkinson university neurology department lrrk 2 carrier study control stage family analysis sample research 2019ser table institute association idiopathic pd 1441c symptom expression mutation carriers hospital region c .1366c frequency brain parkinsonism medicine result allele genetic ancestry idiopathic onset health centre protein center alzheimer genet genotype .1366c subject lrrk 2-associated pd method lrrk 2 mutations t mutation 1 mrna levels penetrance haplotype estimate european ancestry supranuclear palsy london level grant parkinson disease stage 1 h 1/h substitution nature germany effect european genome-wide disorder inversion association results pathology genome-wide association study population article cause number clinic spain
4 Most Recent Publications
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Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy
(Article)
Hoglinger, G. Melhem, N.M. Swieten, J.C. van Pahwa, R. Pezzoli, G. Pickering-Brown, S. Poewe, W. Rabano, A. Rajput, A. Reich, S.G. Respondek, G. Roeber, S. Rohrer, J.D. Heutink, P. Ross, O.A. Rossor, M. Sacilotto, G. Seeley, W.W. Seppi, K. Silveira-Moriyama, L. Spina, S. Srulijes, K. St. George-Hyslop, P. Stamelou, M. Wszolek, Z.K. Standaert, D.G. Tesei, S. Tourtellotte, W.W. Trenkwalder, C. Troakes, C. Trojanowski, J.Q. Troncoso, J.C. Deerlin, V.M. Vonsattel, J.P.G. Wenning, G.K. Uitti, R.J. White, C.L. Winter, P. Zarow, C. Zecchinelli, A.L. Antonini, A. Vandrovcova, J. Hurtig, H.I. Gross, R.G. Maetzler, W. Goldwurm, S. Tolosa, E. Dickson, D. Borroni, B. Pastor, P. Cantwell, L.B. Han, M.R. Dillman, A. Brug, M.P. van der Gibbs, J. Cookson, M.R. Hernandez, D.G. Singleton, A. Sleiman, P.M.A. Farrer, M.J. Yu, C.-E. Golbe, L.I. Revesz, T. Hardy, J. Lees, A.J. Devlin, B. Hakonarson, H. Müller, U. Schellenberg, G.D. Wang, L.-S. Albin, R.L. Alonso, E. Apfelbacher, M. Arnold, S.E. Avila, J. Beach, T.G. Beecher, S. Berg, D. Bird, T.D. Bogdanovic, N. Klei, L. Boon, A.J.W. Bordelon, Y. Brice, A. Budka, H. Canesi, M. Chiu, W.Z. Cilia, R. Colosimo, C. Deyn, P.P. de Yebenes, J.G. de Rademakers, R. Donker Kaat, L. Duara, R. Durr, A. Engelborghs, S. Fabbrini, G. Finch, N.A. Flook, R. Frosch, M.P. Gaig, C. Galasko, D. Silva, R. de Gasser, T. Gearing, M. Geller, E.T. Ghetti, B. Graff-Radford, N.R. Grossman, M. Hall, D.A. Hazrati, L.-N. Höllerhage, M. Jankovic, J. Litvan, I. Juncos, J.L. Karydas, A. Kretzschmar, H.A. Leber, I. Lee, V.M.Y. Lieberman, A.P. Lyons, K.E. Mariani, C. Masliah, E. Massey, L.A. Riley, D.E. McLean, C.A. Meucci, N. Miller, B.L. Mollenhauer, B. Möller, J.C. Morris, H. O'Sullivan, S.S. Oertel, W. Ottaviani, D. Padovani, A. |
2011-07-01
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Phenotype, genotype, and worldwide genetic penetrance of LRRK2-associated Parkinson's disease: a case-control study
(Article)
Healy, D.G. Falchi, M. Ferreira, J.J. Tolosa, E. Kay, D.M. Klein, C. Williams, D.R. Marras, C. Lang, A.E. Wszolek, Z.K. Berciano, J. Schapira, A.H. O'Sullivan, S.S. Lynch, T. Bhatia, K.P. Gasser, T. Lees, A.J. Wood, N.W. Bonifati, V. Durr, A. Bressman, S. Brice, A. Aasly, J. Zabetian, C.P. Goldwurm, S. |
2008-07-01
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Lrrk2 R1441C parkinsonism is clinically similar to sporadic Parkinson disease
(Article)
Haugarvoll, K. Rademakers, R. Guidi, M. Riboldazzi, G. Brown, L. Walter, U. Benecke, R. Berg, D. Gasser, T. Theuns, J. Pals, P. Cras, P. Kachergus, J. Deyn, P.P. de Engelborghs, S. Pickut, B. Uitti, R.J. Foroud, T. Nichols, W.C. Hagenah, J. Klein, C. Samii, A. Zabetian, C.P. Nuytemans, K. Bonifati, V. Broeckhoven, C. van Farrer, M.J. Wszolek, Z.K. Ross, O.A. Gibson, J.M. Tan, E.K. Gaig, C. Tolosa, E. Goldwurm, S. |
2008-04-01
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Biological effects of the PINK1 c.1366C>T mutation: Implications in Parkinson disease pathogenesis
(Article)
Grünewald, A. Breedveld, G.J. Lesage, S. Durr, A. Binkofski, F. Siebner, H. Münchau, A. Brice, A. Oostra, B.A. Klein, C. Bonifati, V. Lohmann-Hedrich, K. Rohe, C.F. König, I.R. Hagenah, J. Vanacore, N. Meco, G. Antonini, A. Goldwurm, S. |
2007-04-01
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