| Clinical diagnosis of progressive supranuclear palsy: the movement disorder society criteria GU Höglinger, G Respondek, M Stamelou, C Kurz, KA Josephs, AE Lang, ... Movement Disorders 32 (6), 853-864, 2017 | 1696 | 2017 |
| Mutations in SDHC cause autosomal dominant paraganglioma, type 3 S Niemann, U Müller nature genetics 26, 269, 2000 | 1045 | 2000 |
| A mutation in the homeodomain of the human MSX2 gene in a family affected with autosomal dominant craniosynostosis EW Jabs, U Müller, X Li, L Ma, W Luo, IS Haworth, I Klisak, R Sparkes, ... Cell 75 (3), 443-450, 1993 | 798 | 1993 |
| Identification of common variants influencing risk of the tauopathy progressive supranuclear palsy GU Höglinger, NM Melhem, DW Dickson, PMA Sleiman, LS Wang, L Klei, ... Nature genetics 43 (7), 699-705, 2011 | 618 | 2011 |
| Analysis of deletions in DNA from patients with Becker and Duchenne muscular dystrophy LM Kunkel, co-authors Nature 322 (6074), 73-77, 1986 | 582 | 1986 |
| Friedreich's ataxia: point mutations and clinical presentation of compound heterozygotes M Cossée, A Dürr, M Schmitt, N Dahl, P Trouillas, P Allinson, M Kostrzewa, ... Annals of Neurology: Official Journal of the American Neurological …, 1999 | 482 | 1999 |
| Homozygous WNT3 mutation causes tetra-amelia in a large consanguineous family S Niemann, C Zhao, F Pascu, U Stahl, U Aulepp, L Niswander, JL Weber, ... The American Journal of Human Genetics 74 (3), 558-563, 2004 | 382 | 2004 |
| Mutations in voltage-gated potassium channel KCNC3 cause degenerative and developmental central nervous system phenotypes MF Waters, NA Minassian, G Stevanin, KP Figueroa, JPA Bannister, ... Nature genetics 38 (4), 447-451, 2006 | 341 | 2006 |
| X-exome sequencing of 405 unresolved families identifies seven novel intellectual disability genes H Hu Molecular Psychiatry 21, 133-148, 2016 | 305 | 2016 |
| Mutations in the gene PRRT2 cause paroxysmal kinesigenic dyskinesia with infantile convulsions HY Lee, Y Huang, N Bruneau, P Roll, EDO Roberson, M Hermann, ... Cell reports 1 (1), 2-12, 2012 | 295 | 2012 |
| Association of an interleukin 1α polymorphism with Alzheimer’s disease Y Du, RC Dodel, BJ Eastwood, KR Bales, F Gao, F Lohmuller, U Muller, ... Neurology 55 (4), 480-484, 2000 | 286 | 2000 |
| Rediscovery of the case described by Alois Alzheimer in 1911: historical, histological and molecular genetic analysis MB Graeber, S Kösel, R Egensperger, RB Banati, U Müller, K Bise, P Hoff, ... Neurogenetics 1, 73-80, 1997 | 233 | 1997 |
| The monogenic primary dystonias U Müller Brain 132 (8), 2005-2025, 2009 | 210 | 2009 |
| Dissecting the Causal Mechanism of X-Linked Dystonia-Parkinsonism by Integrating Genome and Transcriptome Assembly. TME Aneichyk T, Hendriks WT , Yadav R, Shin D, Gao D, … Müller U ... Cell 172, 897-909, 2018 | 202 | 2018 |
| Genome-wide association study of corticobasal degeneration identifies risk variants shared with progressive supranuclear palsy N Kouri Nature Communications 6, 2015 | 201 | 2015 |
| Isolation, Characterization, and Organ-Specific Expression of Two Novel Human Zinc Finger Genes Related to theDrosophilaGenespalt J Kohlhase, R Schuh, G Dowe, RP Kühnlein, H Jäckle, B Schroeder, ... Genomics 38 (3), 291-298, 1996 | 178 | 1996 |
| Four-repeat tauopathies TW Roesler, AT Marvian, M Brendel, NP Nykaenen, M Hoellerhage, ... Progress in neurobiology 180, 101644, 2019 | 160 | 2019 |
| Genomic structure and functional characterization of the human ADAM10 promoter C Prinzen, U Müller, K Endres, F Fahrenholz, R Postina The FASEB Journal 19 (11), 1522-1524, 2005 | 160 | 2005 |
| which ante mortem clinical features predict progressive supranuclear palsy pathology? HGU Respondek G,...Müller U,...Stamelou M Movement Disorders 32 (7), 995-1005, 2017 | 156 | 2017 |
| Disease onset in X-linked dystonia-parkinsonism correlates with expansion of a hexameric repeat within an SVA retrotransposon in TAF1 C Bragg Proc. Natl. Acad. Sci. (USA), 2017 | 142 | 2017 |
Manuel B. GraeberNeuropathologist, Professor at the University of SydneyVerified email at graeber.net
