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Page 1
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. Among authors: kuhlenbaumer g. 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.
Autosomal-dominant striatal degeneration is caused by a mutation in the phosphodiesterase 8B gene.
Appenzeller S, Schirmacher A, Halfter H, Bäumer S, Pendziwiat M, Timmerman V, De Jonghe P, Fekete K, Stögbauer F, Lüdemann P, Hund M, Quabius ES, Ringelstein EB, Kuhlenbäumer G. Appenzeller S, et al. Among authors: kuhlenbaumer g. Am J Hum Genet. 2010 Jan;86(1):83-7. doi: 10.1016/j.ajhg.2009.12.003. Am J Hum Genet. 2010. PMID: 20085714 Free PMC article.
LINGO1 polymorphisms are associated with essential tremor in Europeans.
Thier S, Lorenz D, Nothnagel M, Stevanin G, Dürr A, Nebel A, Schreiber S, Kuhlenbäumer G, Deuschl G, Klebe S. Thier S, et al. Among authors: kuhlenbaumer g. Mov Disord. 2010 Apr 30;25(6):717-23. doi: 10.1002/mds.22887. Mov Disord. 2010. PMID: 20310002
LINGO1 is not associated with Parkinson's disease in German patients.
Klebe S, Thier S, Lorenz D, Nothnagel M, Schreiber S, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Deuschl G, Kuhlenbäumer G. Klebe S, et al. Among authors: kuhlenbaumer g. Am J Med Genet B Neuropsychiatr Genet. 2010 Sep;153B(6):1173-8. doi: 10.1002/ajmg.b.31085. Am J Med Genet B Neuropsychiatr Genet. 2010. PMID: 20468067
Polymorphisms in the glial glutamate transporter SLC1A2 are associated with essential tremor.
Thier S, Lorenz D, Nothnagel M, Poremba C, Papengut F, Appenzeller S, Paschen S, Hofschulte F, Hussl AC, Hering S, Poewe W, Asmus F, Gasser T, Schöls L, Christensen K, Nebel A, Schreiber S, Klebe S, Deuschl G, Kuhlenbäumer G. Thier S, et al. Among authors: kuhlenbaumer g. Neurology. 2012 Jul 17;79(3):243-8. doi: 10.1212/WNL.0b013e31825fdeed. Epub 2012 Jul 3. Neurology. 2012. PMID: 22764253 Free PMC article.
No association between NOD2 variants and Parkinson's disease.
Appenzeller S, Thier S, Papengut F, Klein C, Hagenah J, Kasten M, Berg D, Srulijes K, Gasser T, Schreiber S, Deuschl G, Kuhlenbäumer G. Appenzeller S, et al. Among authors: kuhlenbaumer g. Mov Disord. 2012 Aug;27(9):1191-2. doi: 10.1002/mds.25059. Epub 2012 Jul 13. Mov Disord. 2012. PMID: 22807259 No abstract available.
Febrile infection-related epilepsy syndrome (FIRES) is not caused by SCN1A, POLG, PCDH19 mutations or rare copy number variations.
Appenzeller S, Helbig I, Stephani U, Häusler M, Kluger G, Bungeroth M, Müller S, Kuhlenbäumer G, van Baalen A. Appenzeller S, et al. Among authors: kuhlenbaumer g. Dev Med Child Neurol. 2012 Dec;54(12):1144-8. doi: 10.1111/j.1469-8749.2012.04435.x. Epub 2012 Oct 15. Dev Med Child Neurol. 2012. PMID: 23066759 Free article.
No association between polymorphisms in the glutamate transporter SLC1A2 and Parkinson's disease.
Appenzeller S, Schulte C, Thier S, Hopfner F, Pendziwiat M, Papengut F, Klein C, Hagenah J, Kasten M, Srulijes K, Berg D, Gasser T, Singleton A, Deuschl G, Kuhlenbäumer G. Appenzeller S, et al. Among authors: kuhlenbaumer g. Mov Disord. 2013 Aug;28(9):1305-6. doi: 10.1002/mds.25330. Epub 2013 Feb 6. Mov Disord. 2013. PMID: 23390085 Free PMC article. No abstract available.
164 results