2013

Müller U, Winter P, Graeber MB: A presenilin 1 mutation in the first case of Alzheimer's disease. The Lancet Neurology 12:129-30 (2013); doi:10.1016/S1474-4422(12)70307-1
Herzfeld T, Nolte D, Grznarova M, Hofmann A, Schultze JL, Müller U: X-linked dystonia parkinsonism syndrome (XDP, lubag): Disease-specific sequence change DSC3 in TAF1/DYT3 affects genes in vesicular transport and dopamine metabolism. Hum Mol Genet 22:941-51 (2013); doi: 10.1093/hmg/dds499
Tiedt HO, Lueschow A, Winter P, Müller U: Previously not recognized deletion in presenilin-1 (p.Leu174del.) in a patient with early-onset familial Alzheimer's disease. Neurosci Lett; 544:115-118 (2013), doi: 10.1016/j.neulet.2013.03.056
Weber A, Köhler A, Hahn A, Neubauer B, Müller U: Benign infantile convulsions (IC) and subsequent paroxysmal kinesigenic dyskinesia (PKD) in a patient with 16p11.2 microdeletion syndrome. Neurogenetics 14: 251-253 (2013); doi: 10.1007/s10048-013-0376-7