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Page 1
The role of SCARB2 as susceptibility factor in Parkinson's disease.
Hopfner F, Schulte EC, Mollenhauer B, Bereznai B, Knauf F, Lichtner P, Zimprich A, Haubenberger D, Pirker W, Brücke T, Peters A, Gieger C, Kuhlenbäumer G, Trenkwalder C, Winkelmann J. Hopfner F, et al. Mov Disord. 2013 Apr;28(4):538-40. doi: 10.1002/mds.25349. Epub 2013 Feb 13. Mov Disord. 2013. PMID: 23408458
Novel SCARB2 mutation in action myoclonus-renal failure syndrome and evaluation of SCARB2 mutations in isolated AMRF features.
Hopfner F, Schormair B, Knauf F, Berthele A, Tölle TR, Baron R, Maier C, Treede RD, Binder A, Sommer C, Maihöfner C, Kunz W, Zimprich F, Heemann U, Pfeufer A, Näbauer M, Kääb S, Nowak B, Gieger C, Lichtner P, Trenkwalder C, Oexle K, Winkelmann J. Hopfner F, et al. BMC Neurol. 2011 Oct 27;11:134. doi: 10.1186/1471-2377-11-134. BMC Neurol. 2011. PMID: 22032306 Free PMC article.
Rare Variants in Specific Lysosomal Genes Are Associated With Parkinson's Disease.
Hopfner F, Mueller SH, Szymczak S, Junge O, Tittmann L, May S, Lohmann K, Grallert H, Lieb W, Strauch K, Müller-Nurasyid M, Berger K, Schormair B, Winkelmann J, Mollenhauer B, Trenkwalder C, Maetzler W, Berg D, Kasten M, Klein C, Höglinger GU, Gasser T, Deuschl G, Franke A, Krawczak M, Dempfle A, Kuhlenbäumer G. Hopfner F, et al. Mov Disord. 2020 Jul;35(7):1245-1248. doi: 10.1002/mds.28037. Epub 2020 Apr 8. Mov Disord. 2020. PMID: 32267580
Rare variants in ANO3 are not a susceptibility factor in essential tremor.
Hopfner F, Bungeroth M, Pendziwiat M, Tittmann L, Deuschl G, Schneider SA, Kuhlenbäumer G. Hopfner F, et al. Parkinsonism Relat Disord. 2014 Jan;20(1):134-5. doi: 10.1016/j.parkreldis.2013.09.022. Epub 2013 Sep 27. Parkinsonism Relat Disord. 2014. PMID: 24094724 No abstract available.
Mutations in HTRA2 are not a common cause of familial classic ET.
Hopfner F, Müller SH, Lorenz D, Appenzeller S, Klebe S, Deuschl G, Kuhlenbäumer G. Hopfner F, et al. Mov Disord. 2015 Jul;30(8):1149-50. doi: 10.1002/mds.26252. Epub 2015 May 13. Mov Disord. 2015. PMID: 25970799 No abstract available.
Common Variants Near ZIC1 and ZIC4 in Autopsy-Confirmed Multiple System Atrophy.
Hopfner F, Tietz AK, Ruf VC, Ross OA, Koga S, Dickson D, Aguzzi A, Attems J, Beach T, Beller A, Cheshire WP, van Deerlin V, Desplats P, Deuschl G, Duyckaerts C, Ellinghaus D, Evsyukov V, Flanagan ME, Franke A, Frosch MP, Gearing M, Gelpi E, van Gerpen JA, Ghetti B, Glass JD, Grinberg LT, Halliday G, Helbig I, Höllerhage M, Huitinga I, Irwin DJ, Keene DC, Kovacs GG, Lee EB, Levin J, Martí MJ, Mackenzie I, McKeith I, Mclean C, Mollenhauer B, Neumann M, Newell KL, Pantelyat A, Pendziwiat M, Peters A, Molina Porcel L, Rabano A, Matěj R, Rajput A, Rajput A, Reimann R, Scott WK, Seeley W, Selvackadunco S, Simuni T, Stadelmann C, Svenningsson P, Thomas A, Trenkwalder C, Troakes C, Trojanowski JQ, Uitti RJ, White CL, Wszolek ZK, Xie T, Ximelis T, Yebenes J; Alzheimer's Disease Genetics Consortium; Müller U, Schellenberg GD, Herms J, Kuhlenbäumer G, Höglinger G. Hopfner F, et al. Mov Disord. 2022 Oct;37(10):2110-2121. doi: 10.1002/mds.29164. Epub 2022 Aug 23. Mov Disord. 2022. PMID: 35997131 Free PMC article.
[Genetics of tremor].
Kuhlenbäumer G, Hopfner F. Kuhlenbäumer G, et al. Among authors: hopfner f. Nervenarzt. 2018 Apr;89(4):416-422. doi: 10.1007/s00115-017-0478-9. Nervenarzt. 2018. PMID: 29327099 Review. German.
Genetics of essential tremor: meta-analysis and review.
Kuhlenbäumer G, Hopfner F, Deuschl G. Kuhlenbäumer G, et al. Among authors: hopfner f. Neurology. 2014 Mar 18;82(11):1000-7. doi: 10.1212/WNL.0000000000000211. Epub 2014 Feb 14. Neurology. 2014. PMID: 24532269 Review.
The impact of rare variants in FUS in essential tremor.
Hopfner F, Stevanin G, Müller SH, Mundwiller E, Bungeroth M, Durr A, Pendziwiat M, Anheim M, Schneider SA, Tittmann L, Klebe S, Lorenz D, Deuschl G, Brice A, Kuhlenbäumer G. Hopfner F, et al. Mov Disord. 2015 Apr 15;30(5):721-4. doi: 10.1002/mds.26145. Epub 2015 Jan 28. Mov Disord. 2015. PMID: 25631824
93 results