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mutation patient family dystonia disease lrrk 2 carrier parkinson study neurology analysis onset university department 2019ser symptom group family history disorder idiopathic pd protein 1441c frequency research mutation carriers c .1366c tremor history centre parkinsonism idiopathic .371y sample subject blood allele article individual assay myelomonocytic leukemia leukemia .1366c table control lrrk 2-associated pd cohort 1 mrna levels neurol lrrk 2 mutations t mutation haplotype penetrance factor population estimate genetic movement disorders movement member institute level substitution growth prevalence parkinson disease p .371y expression syndrome hospital disord − − nature children cause signi 1 mutations cd patients stage bone marrow treatment
5 Most Recent Publications
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Phenotypes and genetic architecture of focal primary torsion dystonia
(Article)
Groen, J.L. Kallen, M.C. Baas, F. Koning-Tijssen, M.A.J. de Warrenburg, B. van de Speelman, J.D. Hilten, J.J. van Aramideh, M. Boon, A.J.W. Klein, C. Koelman, J.H.T.M. Langeveld, T.P.M. |
2012-10-01
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Germline CBL mutations cause developmental abnormalities and predispose to juvenile myelomonocytic leukemia
(Article)
Niemeyer, C.M. Kang, M.W. Mehta, P. Schmid, I. Kropshofer, G. Corbacioglu, S. Lang, P.J. Klein, C. Schlegel, P.G. Heinzmann, A. Schneider, M. Stary, J. Shin, D.H. Heuvel-Eibrink, M.M. van den Hasle, H. Locatelli, F. Sakai, D.S. Archambeault, S. Chen, L. Russell, R.C. Sybingco, S.S. Ohh, M. Braun, B.S. Furlan, I. Flotho, C. Loh, M.L. Erlacher, M. Bunin, N.J. Bunda, S. Finklestein, J.Z. Sakamoto, K.M. Gorr, T.A. |
2010-08-08
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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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