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A missense mutation in KCTD17 causes autosomal dominant myoclonus-dystonia.
Mencacci NE, Rubio-Agusti I, Zdebik A, Asmus F, Ludtmann MH, Ryten M, Plagnol V, Hauser AK, Bandres-Ciga S, Bettencourt C, Forabosco P, Hughes D, Soutar MM, Peall K, Morris HR, Trabzuni D, Tekman M, Stanescu HC, Kleta R, Carecchio M, Zorzi G, Nardocci N, Garavaglia B, Lohmann E, Weissbach A, Klein C, Hardy J, Pittman AM, Foltynie T, Abramov AY, Gasser T, Bhatia KP, Wood NW. Mencacci NE, et al. Among authors: hauser ak. Am J Hum Genet. 2015 Jun 4;96(6):938-47. doi: 10.1016/j.ajhg.2015.04.008. Epub 2015 May 14. Am J Hum Genet. 2015. PMID: 25983243 Free PMC article.
SNCA: major genetic modifier of age at onset of Parkinson's disease.
Brockmann K, Schulte C, Hauser AK, Lichtner P, Huber H, Maetzler W, Berg D, Gasser T. Brockmann K, et al. Among authors: hauser ak. Mov Disord. 2013 Aug;28(9):1217-21. doi: 10.1002/mds.25469. Epub 2013 May 14. Mov Disord. 2013. PMID: 23674386
Mutations in CIZ1 are not a major cause for dystonia in Germany.
Dufke C, Hauser AK, Sturm M, Fluhr S, Wächter T, Leube B, Auburger G, Ott T, Bauer P, Gasser T, Grundmann K. Dufke C, et al. Among authors: hauser ak. Mov Disord. 2015 Apr 15;30(5):740-3. doi: 10.1002/mds.26198. Epub 2015 Mar 17. Mov Disord. 2015. PMID: 25778706 No abstract available.
Clinical variability in ataxia-telangiectasia.
Lohmann E, Krüger S, Hauser AK, Hanagasi H, Guven G, Erginel-Unaltuna N, Biskup S, Gasser T. Lohmann E, et al. Among authors: hauser ak. J Neurol. 2015 Jul;262(7):1724-7. doi: 10.1007/s00415-015-7762-z. Epub 2015 May 10. J Neurol. 2015. PMID: 25957637
A novel homozygous DJ1 mutation causes parkinsonism and ALS in a Turkish family.
Hanagasi HA, Giri A, Kartal E, Guven G, Bilgiç B, Hauser AK, Emre M, Heutink P, Basak N, Gasser T, Simón-Sánchez J, Lohmann E. Hanagasi HA, et al. Among authors: hauser ak. Parkinsonism Relat Disord. 2016 Aug;29:117-20. doi: 10.1016/j.parkreldis.2016.03.001. Epub 2016 Mar 3. Parkinsonism Relat Disord. 2016. PMID: 26972524
PLA2G6 Mutations Related to Distinct Phenotypes: A New Case with Early-onset Parkinsonism.
Giri A, Guven G, Hanagasi H, Hauser AK, Erginul-Unaltuna N, Bilgic B, Gurvit H, Heutink P, Gasser T, Lohmann E, Simón-Sánchez J. Giri A, et al. Among authors: hauser ak. Tremor Other Hyperkinet Mov (N Y). 2016 Mar 16;6:363. doi: 10.7916/D81G0M12. eCollection 2016. Tremor Other Hyperkinet Mov (N Y). 2016. PMID: 27127721 Free PMC article.
52 results