2019
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Tulli S, Del Bondio A, Baderna V, Mazza D, Codazzi F, Pierson TM, Ambrosi A, Nolte D, Goizet C, Toro C, Baets J, Deconinck T, DeJonghe P, Mandich P, Casari G, Maltecca F.:Pathogenic variants in the AFG3L2 proteolytic domain cause SCA28 through haploinsufficiency and proteostatic stress-driven OMA1 activation. J Med Genet. 2019 Aug;56(8):499-511. doi: 10.1136/jmedgenet-2018-105766. Epub 2019 Mar 25. PMID: 30910913
- K. Stegen, L. Loeffler, T. Zuleger, A. Skodras, L. Schwarz, B. Maure, L. Wang, D.Grossmann, P. May, A. Velic, B. Macek, U. Müller, G. U. Höglinger, H. Houlden, M. A. DeTure, B. F. Boeve, G. Machetanz, J. Q. Trojanowski, M. Sharma, O. A. Ross, Z. K. Wszolek, O. Riess, D. W. Dickson, A. Riess, T. Proikas-Cezanne, R. Krüger, J. C. Fitzgerald: Dysfunction of the Cation Exchanger NHE6 Disrupts the Endosomal-Lysosomal System in Corticobasal Syndrome Models. Mol. Neurodegen., in press
- T. Roesler, A. Tayaranian Marvian, M. Brendel, N.-P. Nykänen, M. Höllerhage, S. Schwarz, F. Hopfner, T. Koeglsperger, G. Respondek, K. Schweyer, J. Levin, V. Villemagne, H. Barthel, O. Sabri, U. Müller, W. Meissner, G. Kovacs, G. Höglinger: Four-repeat tauopathies. Prog. Neurobiol:180; September 2019, 101644