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patient mutation disease university control department study stage sialic analysis sialic acid lrrk 2 neurology parkinson family sample research table 2019ser brain institute association fi ve patients carrier idiopathic pd expression region c .1366c center symptom hospital result disorder protein ancestry level allele idiopathic health frequency centre cafsa alzheimer erasmus university rotterdam genet method medicine genetic genotype .1366c lrrk 2-associated pd mutation carriers cerebellar ataxia ataxia t mutation 1 mrna levels european ancestry supranuclear palsy london cerebellar onset subject grant cafsa patients stage 1 h 1/h nature germany effect genome-wide european inversion estimate genome-wide association study body fl uids association results abnormality penetrance spain number
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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Cerebellar ataxia with elevated cerebrospinal free sialic acid (CAFSA)
(Article)
Mochel, F. Sedel, F. Kaneski, C.R. Verheijen, F.W. Smits, B.W. Seguin, F. Brice, A. Vanier, M.T. Huizing, M. Schiffmann, R. Durr, A. Wevers, R.A. Vanderver, A. Engelke, U.F.H. Barritault, J. Yang, B. Kulkarni, B. Adams, D.R. Clot, F. Ding, J-H. |
2009-03-01
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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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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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