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Mutations in the CLCN2 gene are a rare cause of idiopathic generalized epilepsy syndromes.
Stogmann E, Lichtner P, Baumgartner C, Schmied M, Hotzy C, Asmus F, Leutmezer F, Bonelli S, Assem-Hilger E, Vass K, Hatala K, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurogenetics. 2006 Nov;7(4):265-8. doi: 10.1007/s10048-006-0057-x. Epub 2006 Aug 24. Neurogenetics. 2006. PMID: 16932951
Idiopathic generalized epilepsy phenotypes associated with different EFHC1 mutations.
Stogmann E, Lichtner P, Baumgartner C, Bonelli S, Assem-Hilger E, Leutmezer F, Schmied M, Hotzy C, Strom TM, Meitinger T, Zimprich F, Zimprich A. Stogmann E, et al. Among authors: zimprich a, zimprich f. Neurology. 2006 Dec 12;67(11):2029-31. doi: 10.1212/01.wnl.0000250254.67042.1b. Neurology. 2006. PMID: 17159113
Role of LINGO1 polymorphisms in Parkinson's disease.
Haubenberger D, Hotzy C, Pirker W, Katzenschlager R, Brücke T, Zimprich F, Auff E, Zimprich A. Haubenberger D, et al. Among authors: zimprich a, zimprich f. Mov Disord. 2009 Dec 15;24(16):2404-7. doi: 10.1002/mds.22768. Mov Disord. 2009. PMID: 19908305 Free PMC article.
Replication study of multiple sclerosis (MS) susceptibility alleles and correlation of DNA-variants with disease features in a cohort of Austrian MS patients.
Schmied MC, Zehetmayer S, Reindl M, Ehling R, Bajer-Kornek B, Leutmezer F, Zebenholzer K, Hotzy C, Lichtner P, Meitinger T, Wichmann HE, Illig T, Gieger C, Huber K, Khalil M, Fuchs S, Schmidt H, Auff E, Kristoferitsch W, Fazekas F, Berger T, Vass K, Zimprich A. Schmied MC, et al. Among authors: zimprich a. Neurogenetics. 2012 May;13(2):181-7. doi: 10.1007/s10048-012-0316-y. Epub 2012 Mar 14. Neurogenetics. 2012. PMID: 22411505
TPP2 mutation associated with sterile brain inflammation mimicking MS.
Reinthaler EM, Graf E, Zrzavy T, Wieland T, Hotzy C, Kopecky C, Pferschy S, Schmied C, Leutmezer F, Keilani M, Lill CM, Hoffjan S, Epplen JT, Zettl UK, Hecker M, Deutschländer A, Meuth SG, Ahram M, Mustafa B, El-Khateeb M, Vilariño-Güell C, Sadovnick AD, Zimprich F, Tomkinson B, Strom T, Kristoferitsch W, Lassmann H, Zimprich A. Reinthaler EM, et al. Among authors: zimprich a, zimprich f. Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec. Neurol Genet. 2018. PMID: 30533531 Free PMC article.
Diagnostic exome sequencing in non-acquired focal epilepsies highlights a major role of GATOR1 complex genes.
Krenn M, Wagner M, Hotzy C, Graf E, Weber S, Brunet T, Lorenz-Depiereux B, Kasprian G, Aull-Watschinger S, Pataraia E, Stogmann E, Zimprich A, Strom TM, Meitinger T, Zimprich F. Krenn M, et al. Among authors: zimprich a, zimprich f. J Med Genet. 2020 Sep;57(9):624-633. doi: 10.1136/jmedgenet-2019-106658. Epub 2020 Feb 21. J Med Genet. 2020. PMID: 32086284
Correction to: The urinary microbiome shows different bacterial genera in renal transplant recipients and non-transplant patients at time of acute kidney injury - a pilot study.
Gerges-Knafl D, Pichler P, Zimprich A, Hotzy C, Barousch W, Lang RM, Lobmeyr E, Baumgartner-Parzer S, Wagner L, Winnicki W. Gerges-Knafl D, et al. Among authors: zimprich a. BMC Nephrol. 2020 May 7;21(1):168. doi: 10.1186/s12882-020-01835-4. BMC Nephrol. 2020. PMID: 32381055 Free PMC article.
165 results