2016
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Koenigstein K, Gramsch C, Kolodziej M, Neubauer BA, Weber A, Lechner S, Hahn A. Chudley-McCullough Syndrome: Variable Clinical Picture in Twins with a Novel GPSM2 Mutation. Neuropediatrics. 2016 Jun;47(3):197-201
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Müller U, Bertram L: Die Genetik der Alzheimer-Krankheit. Deutsche Alzheimer Gesellschaft, Informationsblatt 4 (2016)
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Weber A, Kreth J, Müller U: Intronic PRRT2 mutation generates novel splice acceptor site and causes paroxysmal kinesigenic dyskinesia with infantile convulsions (PKD/IC) in a three generation family. BMC Med Genet 17:16 (2016) doi:10.1186/s12881-016-0281-7
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Tatura R, Buchholz M, Dickson DW, van Swieten J, McLean C, Höglinger G, Müller U: microRNA profiling: increased expression of miR-147a and miR-51o8e in progressive supranuclear palsy (PSP). Neurogenetics 17: 165-171 (2016) doi: 10.1007/s10048-016-0480-6
- Tatura R, Kraus T, Giese A, Arzberger T, Buchholz M, Höglinger G, Müller U: Parkinson´s disease: SNCA-, PARK2-, and LRRK2-targeting microRNAs elevated in cingulate gyrus. Parkinsonism Relat Disord. 33:115-121 (2016) doi: 10.1016/j.parkreldis.2016.09.028.
- Hu H, Haas SA,..., Müller U,... Kalscheuer VM: X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes. Mol. Psychiatry 21(1):133-148 (2016) doi: 10.1038/mp.2014.193