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Page 1
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: winkelmann j. EMBO Mol Med. 2019 Jun;11(6):e9711. doi: 10.15252/emmm.201809711. EMBO Mol Med. 2019. PMID: 31122931 Free PMC article.
Niemann-Pick C disease gene mutations and age-related neurodegenerative disorders.
Zech M, Nübling G, Castrop F, Jochim A, Schulte EC, Mollenhauer B, Lichtner P, Peters A, Gieger C, Marquardt T, Vanier MT, Latour P, Klünemann H, Trenkwalder C, Diehl-Schmid J, Perneczky R, Meitinger T, Oexle K, Haslinger B, Lorenzl S, Winkelmann J. Zech M, et al. Among authors: winkelmann j. PLoS One. 2013 Dec 30;8(12):e82879. doi: 10.1371/journal.pone.0082879. eCollection 2013. PLoS One. 2013. PMID: 24386122 Free PMC article.
Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.
Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J. Schulte EC, et al. Among authors: winkelmann j. Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21. Eur J Hum Genet. 2015. PMID: 25604855 Free PMC article.
Potential genetic modifiers of disease risk and age at onset in patients with frontotemporal lobar degeneration and GRN mutations: a genome-wide association study.
Pottier C, Zhou X, Perkerson RB 3rd, Baker M, Jenkins GD, Serie DJ, Ghidoni R, Benussi L, Binetti G, López de Munain A, Zulaica M, Moreno F, Le Ber I, Pasquier F, Hannequin D, Sánchez-Valle R, Antonell A, Lladó A, Parsons TM, Finch NA, Finger EC, Lippa CF, Huey ED, Neumann M, Heutink P, Synofzik M, Wilke C, Rissman RA, Slawek J, Sitek E, Johannsen P, Nielsen JE, Ren Y, van Blitterswijk M, DeJesus-Hernandez M, Christopher E, Murray ME, Bieniek KF, Evers BM, Ferrari C, Rollinson S, Richardson A, Scarpini E, Fumagalli GG, Padovani A, Hardy J, Momeni P, Ferrari R, Frangipane F, Maletta R, Anfossi M, Gallo M, Petrucelli L, Suh E, Lopez OL, Wong TH, van Rooij JGJ, Seelaar H, Mead S, Caselli RJ, Reiman EM, Noel Sabbagh M, Kjolby M, Nykjaer A, Karydas AM, Boxer AL, Grinberg LT, Grafman J, Spina S, Oblak A, Mesulam MM, Weintraub S, Geula C, Hodges JR, Piguet O, Brooks WS, Irwin DJ, Trojanowski JQ, Lee EB, Josephs KA, Parisi JE, Ertekin-Taner N, Knopman DS, Nacmias B, Piaceri I, Bagnoli S, Sorbi S, Gearing M, Glass J, Beach TG, Black SE, Masellis M, Rogaeva E, Vonsattel JP, Honig LS, Kofler J, Bruni AC, Snowden J, Mann D, Pickering-Brown S, Diehl-Schmid J, Winkelmann J, Galimberti D,… See abstract for full author list ➔ Pottier C, et al. Among authors: winkelmann j. Lancet Neurol. 2018 Jun;17(6):548-558. doi: 10.1016/S1474-4422(18)30126-1. Epub 2018 Apr 30. Lancet Neurol. 2018. PMID: 29724592 Free PMC article.
[Exome diagnostics in neurology].
Zech M, Wagner M, Schormair B, Oexle K, Winkelmann J. Zech M, et al. Among authors: winkelmann j. Nervenarzt. 2019 Feb;90(2):131-137. doi: 10.1007/s00115-018-0667-1. Nervenarzt. 2019. PMID: 30645660 Review. German.
Variability of clinical syndromes and cerebral glucose metabolism in symptomatic frontotemporal lobar degeneration associated with progranulin mutations.
Licata A, Grimmer T, Winkelmann J, Wagner M, Goldhardt O, Riedl L, Roßmeier C, Yakushev I, Diehl-Schmid J. Licata A, et al. Among authors: winkelmann j. Amyotroph Lateral Scler Frontotemporal Degener. 2020 Aug;21(5-6):389-395. doi: 10.1080/21678421.2020.1779302. Epub 2020 Jun 22. Amyotroph Lateral Scler Frontotemporal Degener. 2020. PMID: 32567375
MATR3 haploinsufficiency and early-onset neurodegeneration.
Zech M, Seibt A, Zumbaum B, Klee D, Meitinger T, Winkelmann J, Mayatepek E, Wagner M, Distelmaier F. Zech M, et al. Among authors: winkelmann j. Brain. 2021 Oct 22;144(9):e72. doi: 10.1093/brain/awab240. Brain. 2021. PMID: 34173818 No abstract available.
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. Among authors: winkelmann j. 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.
403 results