2017
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Logeswaran T, Friedburg C, Hofmann K, Akintuerk H, Biskup S, Graef M, Rad A, Weber A, Neubauer BA, Schranz D, Bouvagnet P, Lorenz B, Hahn A. Two patients with the heterozygous R189H mutation in ACTA2 and Complex congenital heart defects expands the cardiac phenotype of multisystemic smooth muscle dysfunction syndrome. Am J Med Genet A. 2017 Apr;173(4):959-965
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Müller U, Auburger, G, Graeber MB, Ptacek LJ: Developing the field of Neurogenetics. Neurogenetics 18:183–184 (2017); doi.org/10.1007/s10048-017-0530-8
- Tallaksen CME, Müller U: Cancer and neurodegeneration. Neurology 88 (12): 1106-1107 (2017) doi:10.1212/WNL0000000000003727
- Bruch j, Xu H, Rösler TW, DeAndrade A, Kkkuhn P-H, Lichtenthaler SF, Arzberger T, Winklhofer KF, Müller U, Höglinger GU: PERK activation mitigates tau pathology in vitro and in vivo. EMBO Mol Med 9: 371-384 (2017) doi: 10.15252/emmm.201606664
- Skopkova M, Hennig F, Shin B-S,... Müller U, ..., Dever TE, Kalscheuer VM: EIF2S3 mutations associated with sevwere X-linked intellectual disability syndrome MEHMO. Hum. Mutat 38: 409-425 (2017) doi: 10.10002/humu.23170j
- Yokoyama JS,..., Müller U, ... Desikan RS: Shared genetic risk between corticobasal degeneration , progressive supranuclear palsy, and frontotemporal dementia. Acta Neuropathol. 133: 825-837 (2017) doi: 10.1007/s00401-017-1693-y
- Respondek G, ..., Müller U, ..., Stamelou M, Höglinger GU: Which ante mortem clinical features predict progressive supranuclear palsy pathology? Mov. Disord. 32: 995-1005 (2017); doi: 10.1002/mds.27034
- Höglinger GU, Respondek G, Stamelou M, ...Müller U, ... , Litvan I: Clinical diagnosis of progressive supranuclear palsy: The movement disorder society criteria. Mov. Disord. 32: 853-864 (2017) doi: 10.1002/mds.26987