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Items: 24

1.

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.

Neurol Genet. 2018 Nov 13;4(6):e285. doi: 10.1212/NXG.0000000000000285. eCollection 2018 Dec.

2.

The Parkinson's disease VPS35[D620N] mutation enhances LRRK2-mediated Rab protein phosphorylation in mouse and human.

Mir R, Tonelli F, Lis P, Macartney T, Polinski NK, Martinez TN, Chou MY, Howden AJM, König T, Hotzy C, Milenkovic I, Brücke T, Zimprich A, Sammler E, Alessi DR.

Biochem J. 2018 Jun 6;475(11):1861-1883. doi: 10.1042/BCJ20180248.

3.

Haploid selection within a single ejaculate increases offspring fitness.

Alavioon G, Hotzy C, Nakhro K, Rudolf S, Scofield DG, Zajitschek S, Maklakov AA, Immler S.

Proc Natl Acad Sci U S A. 2017 Jul 25;114(30):8053-8058. doi: 10.1073/pnas.1705601114. Epub 2017 Jul 11.

4.

Hereditary spastic paraplegia caused by compound heterozygous mutations outside the motor domain of the KIF1A gene.

Krenn M, Zulehner G, Hotzy C, Rath J, Stogmann E, Wagner M, Haack TB, Strom TM, Zimprich A, Zimprich F.

Eur J Neurol. 2017 May;24(5):741-747. doi: 10.1111/ene.13279. Epub 2017 Mar 22.

PMID:
28332297
5.

Genome size correlates with reproductive fitness in seed beetles.

Arnqvist G, Sayadi A, Immonen E, Hotzy C, Rankin D, Tuda M, Hjelmen CE, Johnston JS.

Proc Biol Sci. 2015 Sep 22;282(1815). pii: 20151421. doi: 10.1098/rspb.2015.1421.

6.

Rare variants in γ-aminobutyric acid type A receptor genes in rolandic epilepsy and related syndromes.

Reinthaler EM, Dejanovic B, Lal D, Semtner M, Merkler Y, Reinhold A, Pittrich DA, Hotzy C, Feucht M, Steinböck H, Gruber-Sedlmayr U, Ronen GM, Neophytou B, Geldner J, Haberlandt E, Muhle H, Ikram MA, van Duijn CM, Uitterlinden AG, Hofman A, Altmüller J, Kawalia A, Toliat MR; EuroEPINOMICS Consortium, Nürnberg P, Lerche H, Nothnagel M, Thiele H, Sander T, Meier JC, Schwarz G, Neubauer BA, Zimprich F.

Ann Neurol. 2015 Jun;77(6):972-86. doi: 10.1002/ana.24395. Epub 2015 Mar 28.

PMID:
25726841
7.

Short-term variation in sperm competition causes sperm-mediated epigenetic effects on early offspring performance in the zebrafish.

Zajitschek S, Hotzy C, Zajitschek F, Immler S.

Proc Biol Sci. 2014 Apr 30;281(1785):20140422. doi: 10.1098/rspb.2014.0422. Print 2014 Jun 22.

8.

Sperm variation within a single ejaculate affects offspring development in Atlantic salmon.

Immler S, Hotzy C, Alavioon G, Petersson E, Arnqvist G.

Biol Lett. 2014 Feb 12;10(2):20131040. doi: 10.1098/rsbl.2013.1040. Print 2014 Feb.

9.

No evidence for a role of rare CYP27B1 variants in Austrian multiple sclerosis patients.

Reinthaler E, Machetanz G, Hotzy C, Reindl M, Fazekas F, Kristoferitsch W, Berger T, Schmied C, Zimprich A.

Mult Scler. 2014 Mar;20(3):391-2. doi: 10.1177/1352458513498130. Epub 2013 Jul 25. No abstract available.

PMID:
23886824
10.

Phenotypic engineering unveils the function of genital morphology.

Hotzy C, Polak M, Rönn JL, Arnqvist G.

Curr Biol. 2012 Dec 4;22(23):2258-61. doi: 10.1016/j.cub.2012.10.009. Epub 2012 Oct 25.

11.

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.

Neurogenetics. 2012 May;13(2):181-7. doi: 10.1007/s10048-012-0316-y. Epub 2012 Mar 14.

PMID:
22411505
12.

Lack of association between ABCC2 gene variants and treatment response in epilepsy.

Hilger E, Reinthaler EM, Stogmann E, Hotzy C, Pataraia E, Baumgartner C, Zimprich A, Zimprich F.

Pharmacogenomics. 2012 Jan;13(2):185-90. doi: 10.2217/pgs.11.143.

PMID:
22256867
13.

A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease.

Zimprich A, Benet-Pagès A, Struhal W, Graf E, Eck SH, Offman MN, Haubenberger D, Spielberger S, Schulte EC, Lichtner P, Rossle SC, Klopp N, Wolf E, Seppi K, Pirker W, Presslauer S, Mollenhauer B, Katzenschlager R, Foki T, Hotzy C, Reinthaler E, Harutyunyan A, Kralovics R, Peters A, Zimprich F, Brücke T, Poewe W, Auff E, Trenkwalder C, Rost B, Ransmayr G, Winkelmann J, Meitinger T, Strom TM.

Am J Hum Genet. 2011 Jul 15;89(1):168-75. doi: 10.1016/j.ajhg.2011.06.008.

14.

Role of LINGO1 polymorphisms in Parkinson's disease.

Haubenberger D, Hotzy C, Pirker W, Katzenschlager R, Brücke T, Zimprich F, Auff E, Zimprich A.

Mov Disord. 2009 Dec 15;24(16):2404-7. doi: 10.1002/mds.22768.

15.

A splice site variant in the sodium channel gene SCN1A confers risk of febrile seizures.

Schlachter K, Gruber-Sedlmayr U, Stogmann E, Lausecker M, Hotzy C, Balzar J, Schuh E, Baumgartner C, Mueller JC, Illig T, Wichmann HE, Lichtner P, Meitinger T, Strom TM, Zimprich A, Zimprich F.

Neurology. 2009 Mar 17;72(11):974-8. doi: 10.1212/01.wnl.0000344401.02915.00.

PMID:
19289736
16.

Sperm competition favors harmful males in seed beetles.

Hotzy C, Arnqvist G.

Curr Biol. 2009 Mar 10;19(5):404-7. doi: 10.1016/j.cub.2009.01.045. Epub 2009 Feb 19.

17.

Variant in the sequence of the LINGO1 gene confers risk of essential tremor.

Stefansson H, Steinberg S, Petursson H, Gustafsson O, Gudjonsdottir IH, Jonsdottir GA, Palsson ST, Jonsson T, Saemundsdottir J, Bjornsdottir G, Böttcher Y, Thorlacius T, Haubenberger D, Zimprich A, Auff E, Hotzy C, Testa CM, Miyatake LA, Rosen AR, Kristleifsson K, Rye D, Asmus F, Schöls L, Dichgans M, Jakobsson F, Benedikz J, Thorsteinsdottir U, Gulcher J, Kong A, Stefansson K.

Nat Genet. 2009 Mar;41(3):277-9. doi: 10.1038/ng.299. Epub 2009 Feb 1. Erratum in: Nat Genet. 2009 Apr;41(4):504.

18.

A novel LRRK2 mutation in an Austrian cohort of patients with Parkinson's disease.

Haubenberger D, Bonelli S, Hotzy C, Leitner P, Lichtner P, Samal D, Katzenschlager R, Djamshidian A, Brücke T, Steffelbauer M, Bancher C, Grossmann J, Ransmayr G, Strom TM, Meitinger T, Gasser T, Auff E, Zimprich A.

Mov Disord. 2007 Aug 15;22(11):1640-3.

PMID:
17523199
19.

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.

Neurology. 2006 Dec 12;67(11):2029-31.

PMID:
17159113
20.

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.

Neurogenetics. 2006 Nov;7(4):265-8. Epub 2006 Aug 24.

PMID:
16932951
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