Grünewald, A.* , Arns, B.* , Meier, B., Brockmann, K., Tadic, V., & Klein, C. (2014). Does uncoupling protein 2 expression qualify as marker of disease status in LRRK2-associated Parkinson's disease? Antioxidants & redox signaling, 20 (13), 1955-60. doi:10.1089/ars.2013.5737 Peer reviewed * These authors have contributed equally to this work. |
Lohmann, K., Schmidt, A., Schillert, A., Winkler, S., Albanese, A., Baas, F., Bentivoglio, A. R., Borngraber, F., Bruggemann, N., Defazio, G., Del Sorbo, F., Deuschl, G., Edwards, M. J., Gasser, T., Gomez-Garre, P., Graf, J., Groen, J. L., Grünewald, A., Hagenah, J., ... Klein, C. (2014). Genome-wide association study in musician's dystonia: a risk variant at the arylsulfatase G locus? Movement Disorders, 29 (7), 921-7. doi:10.1002/mds.25791 Peer Reviewed verified by ORBi |
Morais, V. A., Haddad, D., Craessaerts, K., De Bock, P.-J., Swerts, J., Vilain, S., Aerts, L., Overbergh, L., Grünewald, A., Seibler, P., Klein, C., Gevaert, K., Verstreken, P., & De Strooper, B. (2014). PINK1 loss-of-function mutations affect mitochondrial complex I activity via NdufA10 ubiquinone uncoupling. Science, 344 (6180), 203-7. doi:10.1126/science.1249161 Peer Reviewed verified by ORBi |
Grünewald, A.* , Kasten, M.* , Ziegler, A., & Klein, C. (2013). Next-generation phenotyping using the parkin example: time to catch up with genetics. JAMA Neurology, 70 (9), 1186-91. doi:10.1001/jamaneurol.2013.488 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Rakovic, A., Shurkewitsch, K., Seibler, P., Grünewald, A., Zanon, A., Hagenah, J., Krainc, D., & Klein, C. (2013). Phosphatase and tensin homolog (PTEN)-induced putative kinase 1 (PINK1)-dependent ubiquitination of endogenous Parkin attenuates mitophagy: study in human primary fibroblasts and induced pluripotent stem cell-derived neurons. The Journal of biological chemistry, 288 (4), 2223-37. doi:10.1074/jbc.M112.391680 Peer reviewed |
Kumar, K. R., Blair, N. F., Vandebona, H., Liang, C., Ng, K., Sharpe, D. M., Grünewald, A., Golnitz, U., Saviouk, V., Rolfs, A., Klein, C., & Sue, C. M. (2013). Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia. Journal of Neurology, 260 (10), 2516-22. doi:10.1007/s00415-013-7008-x Peer Reviewed verified by ORBi |
Alvarez-Fischer, D., Noelker, C., Vulinovic, F., Grünewald, A., Chevarin, C., Klein, C., Oertel, W. H., Hirsch, E. C., Michel, P. P., & Hartmann, A. (2013). Bee venom and its component apamin as neuroprotective agents in a Parkinson disease mouse model. PLoS ONE, 8 (4), 61700. doi:10.1371/journal.pone.0061700 Peer Reviewed verified by ORBi |
Kumar, K. R., Ramirez, A., Gobel, A., Kresojevic, N., Svetel, M., Lohmann, K., M Sue, C., Rolfs, A., Mazzulli, J. R., Alcalay, R. N., Krainc, D., Klein, C., Kostic, V., & Grünewald, A. (2013). Glucocerebrosidase mutations in a Serbian Parkinson's disease population. European Journal of Neurology, 20 (2), 402-5. doi:10.1111/j.1468-1331.2012.03817.x Peer Reviewed verified by ORBi |
Kasten, M., Grünewald, A., & Klein, C. (2013). Next-generation phenotyping and genomic incidental findings--reply. JAMA Neurology, 70 (12), 1590-1. doi:10.1001/jamaneurol.2013.4812 Peer Reviewed verified by ORBi |
Freimann, K., Zschiedrich, K., Bruggemann, N., Grünewald, A., Pawlack, H., Hagenah, J., Lohmann, K., Klein, C., & Westenberger, A. (2013). Mortalin mutations are not a frequent cause of early-onset Parkinson disease. Neurobiology of Aging, 34 (11), 2694.e19-20. doi:10.1016/j.neurobiolaging.2013.05.021 Peer Reviewed verified by ORBi |
Weissbach, A., Kasten, M., Grünewald, A., Bruggemann, N., Trillenberg, P., Klein, C., & Hagenah, J. (2013). Prominent psychiatric comorbidity in the dominantly inherited movement disorder myoclonus-dystonia. Parkinsonism and Related Disorders, 19 (4), 422-5. doi:10.1016/j.parkreldis.2012.12.004 Peer Reviewed verified by ORBi |
Wortmann, S. B., Vaz, F. M., Gardeitchik, T., Vissers, L. E. L. M., Renkema, G. H., Schuurs-Hoeijmakers, J. H. M., Kulik, W., Lammens, M., Christin, C., Kluijtmans, L. A. J., Rodenburg, R. J., Nijtmans, L. G. J., Grünewald, A., Klein, C., Gerhold, J. M., Kozicz, T., van Hasselt, P. M., Harakalova, M., Kloosterman, W., ... de Brouwer, A. P. M. (2012). Mutations in the phospholipid remodeling gene SERAC1 impair mitochondrial function and intracellular cholesterol trafficking and cause dystonia and deafness. Nature Genetics, 44 (7), 797-802. doi:10.1038/ng.2325 Peer Reviewed verified by ORBi |
Schmidt, A., Kumar, K. R., Redyk, K., Grünewald, A., Leben, M., Munchau, A., Sue, C. M., Hagenah, J., Hartmann, H., Lohmann, K., Christen, H.-J., & Klein, C. (2012). Two faces of the same coin: benign familial infantile seizures and paroxysmal kinesigenic dyskinesia caused by PRRT2 mutations. Archives of Neurology, 69 (5), 668-70. doi:10.1001/archneurol.2012.187 Peer Reviewed verified by ORBi |
Grünewald, A.* , Arns, B.* , Seibler, P., Rakovic, A., Munchau, A., Ramirez, A., Sue, C. M., & Klein, C. (2012). ATP13A2 mutations impair mitochondrial function in fibroblasts from patients with Kufor-Rakeb syndrome. Neurobiology of Aging, 33 (8), 1843.e1-7. doi:10.1016/j.neurobiolaging.2011.12.035 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Abramov, A. Y., Gegg, M., Grünewald, A., Wood, N. W., Klein, C., & Schapira, A. H. V. (2011). Bioenergetic consequences of PINK1 mutations in Parkinson disease. PLoS ONE, 6 (10), 25622. doi:10.1371/journal.pone.0025622 Peer Reviewed verified by ORBi |
Rakovic, A.* , Grünewald, A.* , Kottwitz, J., Bruggemann, N., Pramstaller, P. P., Lohmann, K., & Klein, C. (2011). Mutations in PINK1 and Parkin impair ubiquitination of Mitofusins in human fibroblasts. PLoS ONE, 6 (3), 16746. doi:10.1371/journal.pone.0016746 Peer Reviewed verified by ORBi * These authors have contributed equally to this work. |
Arif, B., Grünewald, A., Fatima, A., Ramirez, A., Ali, A., Bruggemann, N., Wurfel, J., Rolfs, A., Lohmann, K., Malik, A., Klein, C., & Naz, S. (2011). An unusual neurological syndrome of crawling gait, dystonia, pyramidal signs, and limited speech. Movement Disorders, 26 (12), 2279-83. doi:10.1002/mds.23860 Peer Reviewed verified by ORBi |
Grünewald, A., Voges, L., Rakovic, A., Kasten, M., Vandebona, H., Hemmelmann, C., Lohmann, K., Orolicki, S., Ramirez, A., Schapira, A. H. V., Pramstaller, P. P., Sue, C. M., & Klein, C. (2010). Mutant Parkin impairs mitochondrial function and morphology in human fibroblasts. PLoS ONE, 5 (9), 12962. doi:10.1371/journal.pone.0012962 Peer Reviewed verified by ORBi |
Rakovic, A., Grünewald, A., Seibler, P., Ramirez, A., Kock, N., Orolicki, S., Lohmann, K., & Klein, C. (2010). Effect of endogenous mutant and wild-type PINK1 on Parkin in fibroblasts from Parkinson disease patients. Human Molecular Genetics, 19 (16), 3124-37. doi:10.1093/hmg/ddq215 Peer Reviewed verified by ORBi |
Grünewald, A., Gegg, M. E., Taanman, J.-W., King, R. H., Kock, N., Klein, C., & Schapira, A. H. V. (2009). Differential effects of PINK1 nonsense and missense mutations on mitochondrial function and morphology. Experimental Neurology, 219 (1), 266-73. doi:10.1016/j.expneurol.2009.05.027 Peer Reviewed verified by ORBi |
Grünewald, A., Djarmati, A., Lohmann-Hedrich, K., Farrell, K., Zeller, J. A., Allert, N., Papengut, F., Petersen, B., Fung, V., Sue, C. M., O'Sullivan, D., Mahant, N., Kupsch, A., Chuang, R. S., Wiegers, K., Pawlack, H., Hagenah, J., Ozelius, L. J., Stephani, U., ... Klein, C. (2008). Myoclonus-dystonia: significance of large SGCE deletions. Human Mutation, 29 (2), 331-2. doi:10.1002/humu.9521 Peer Reviewed verified by ORBi |
Brueggemann, N., Odin, P., Grünewald, A., Tadic, V., Hagenah, J., Seidel, G., Lohmann, K., Klein, C., & Djarmati, A. (2008). Re: Alpha-synuclein gene duplication is present in sporadic Parkinson disease. Neurology, 71 (16), 1294; author reply 1294. doi:10.1212/01.wnl.0000338439.00992.c7 Peer Reviewed verified by ORBi |
Paus, S., Grünewald, A., Klein, C., Knapp, M., Zimprich, A., Janetzky, B., Moller, J. C., Klockgether, T., & Wullner, U. (2008). The DRD2 TaqIA polymorphism and demand of dopaminergic medication in Parkinson's disease. Movement Disorders, 23 (4), 599-602. doi:10.1002/mds.21901 Peer Reviewed verified by ORBi |
Grünewald, A., Breedveld, G. J., Lohmann-Hedrich, K., Rohe, C. F., Konig, I. R., Hagenah, J., Vanacore, N., Meco, G., Antonini, A., Goldwurm, S., Lesage, S., Durr, A., Binkofski, F., Siebner, H., Munchau, A., Brice, A., Oostra, B. A., Klein, C., & Bonifati, V. (2007). Biological effects of the PINK1 c.1366C>T mutation: implications in Parkinson disease pathogenesis. Neurogenetics, 8 (2), 103-9. doi:10.1007/s10048-006-0072-y Peer reviewed |
Orth, M., Djarmati, A., Baumer, T., Winkler, S., Grünewald, A., Lohmann-Hedrich, K., Kabakci, K., Hagenah, J., Klein, C., & Munchau, A. (2007). Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene. Movement Disorders, 22 (14), 2090-6. doi:10.1002/mds.21674 Peer reviewed |
Djarmati, A.* , Guzvic, M.* , Grünewald, A., Lang, A. E., Pramstaller, P. P., Simon, D. K., Kaindl, A. M., Vieregge, P., Nygren, A. O. H., Beetz, C., Hedrich, K., & Klein, C. (2007). Rapid and reliable detection of exon rearrangements in various movement disorders genes by multiplex ligation-dependent probe amplification. Movement Disorders, 22 (12), 1708-14. doi:10.1002/mds.21370 Peer reviewed * These authors have contributed equally to this work. |
Hedrich, K., Hagenah, J., Djarmati, A., Hiller, A., Lohnau, T., Lasek, K., Grünewald, A., Hilker, R., Steinlechner, S., Boston, H., Kock, N., Schneider-Gold, C., Kress, W., Siebner, H., Binkofski, F., Lencer, R., Munchau, A., & Klein, C. (2006). Clinical spectrum of homozygous and heterozygous PINK1 mutations in a large German family with Parkinson disease: role of a single hit? Archives of neurology, 63 (6), 833-8. doi:10.1001/archneur.63.6.833 Peer reviewed |
Klein, C., Grünewald, A., & Hedrich, K. (2006). Early-onset parkinsonism associated with PINK1 mutations: frequency, genotypes, and phenotypes. Neurology, 66 (7), 1129-30; author reply 1129-30. doi:10.1212/01.wnl.0000220157.81513.85 Peer Reviewed verified by ORBi |