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Clinico-genetic findings in 509 frontotemporal dementia patients.
Wagner M, Lorenz G, Volk AE, Brunet T, Edbauer D, Berutti R, Zhao C, Anderl-Straub S, Bertram L, Danek A, Deschauer M, Dill V, Fassbender K, Fliessbach K, Götze KS, Jahn H, Kornhuber J, Landwehrmeyer B, Lauer M, Obrig H, Prudlo J, Schneider A, Schroeter ML, Uttner I, Vukovich R, Wiltfang J, Winkler AS, Zhou Q, Ludolph AC; German FTLD consortium; Oexle K, Otto M, Diehl-Schmid J, Winkelmann J. Wagner M, et al. Mol Psychiatry. 2021 Oct;26(10):5824-5832. doi: 10.1038/s41380-021-01271-2. Epub 2021 Sep 24. Mol Psychiatry. 2021. PMID: 34561610 Free PMC article.
Molecular diversity of combined and complex dystonia: insights from diagnostic exome sequencing.
Zech M, Jech R, Wagner M, Mantel T, Boesch S, Nocker M, Jochim A, Berutti R, Havránková P, Fečíková A, Kemlink D, Roth J, Strom TM, Poewe W, Růžička E, Haslinger B, Winkelmann J. Zech M, et al. Among authors: wagner m. Neurogenetics. 2017 Dec;18(4):195-205. doi: 10.1007/s10048-017-0521-9. Epub 2017 Aug 28. Neurogenetics. 2017. PMID: 28849312
[Exome diagnostics in neurology].
Zech M, Wagner M, Schormair B, Oexle K, Winkelmann J. Zech M, et al. Among authors: wagner m. Nervenarzt. 2019 Feb;90(2):131-137. doi: 10.1007/s00115-018-0667-1. Nervenarzt. 2019. PMID: 30645660 Review. German.
Recessive variants in ZNF142 cause a complex neurodevelopmental disorder with intellectual disability, speech impairment, seizures, and dystonia.
Khan K, Zech M, Morgan AT, Amor DJ, Skorvanek M, Khan TN, Hildebrand MS, Jackson VE, Scerri TS, Coleman M, Rigbye KA, Scheffer IE, Bahlo M, Wagner M, Lam DD, Berutti R, Havránková P, Fečíková A, Strom TM, Han V, Dosekova P, Gdovinova Z, Laccone F, Jameel M, Mooney MR, Baig SM, Jech R, Davis EE, Katsanis N, Winkelmann J. Khan K, et al. Among authors: wagner m. Genet Med. 2019 Nov;21(11):2532-2542. doi: 10.1038/s41436-019-0523-0. Epub 2019 Apr 30. Genet Med. 2019. PMID: 31036918 Free PMC article.
Opposite microglial activation stages upon loss of PGRN or TREM2 result in reduced cerebral glucose metabolism.
Götzl JK, Brendel M, Werner G, Parhizkar S, Sebastian Monasor L, Kleinberger G, Colombo AV, Deussing M, Wagner M, Winkelmann J, Diehl-Schmid J, Levin J, Fellerer K, Reifschneider A, Bultmann S, Bartenstein P, Rominger A, Tahirovic S, Smith ST, Madore C, Butovsky O, Capell A, Haass C. Götzl JK, et al. Among authors: wagner m. EMBO Mol Med. 2019 Jun;11(6):e9711. doi: 10.15252/emmm.201809711. EMBO Mol Med. 2019. PMID: 31122931 Free PMC article.
6,356 results