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Items: 1 to 50 of 100

1.

Genotype-guided diagnostic reassessment after exome sequencing in neuromuscular disorders: experiences with a two-step approach.

Krenn M, Tomschik M, Rath J, Cetin H, Grisold A, Zulehner G, Milenkovic I, Stogmann E, Zimprich A, Strom TM, Meitinger T, Wagner M, Zimprich F.

Eur J Neurol. 2019 Jul 10. doi: 10.1111/ene.14033. [Epub ahead of print]

PMID:
31407473
2.

Exome sequencing in multiple sclerosis families identifies 12 candidate genes and nominates biological pathways for the genesis of disease.

Vilariño-Güell C, Zimprich A, Martinelli-Boneschi F, Herculano B, Wang Z, Matesanz F, Urcelay E, Vandenbroeck K, Leyva L, Gris D, Massaad C, Quandt JA, Traboulsee AL, Encarnacion M, Bernales CQ, Follett J, Yee IM, Criscuoli MG, Deutschländer A, Reinthaler EM, Zrzavy T, Mascia E, Zauli A, Esposito F, Alcina A, Izquierdo G, Espino-Paisán L, Mena J, Antigüedad A, Urbaneja-Romero P, Ortega-Pinazo J, Song W, Sadovnick AD.

PLoS Genet. 2019 Jun 6;15(6):e1008180. doi: 10.1371/journal.pgen.1008180. eCollection 2019 Jun.

3.

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.

4.

A rare P2RX7 variant in a Hungarian family with multiple sclerosis.

Zrzavy T, Kovacs-Nagy R, Reinthaler E, Deutschländer A, Schmied C, Kornek B, Leutmezer F, Zimprich A.

Mult Scler Relat Disord. 2019 Jan;27:340-341. doi: 10.1016/j.msard.2018.10.110. Epub 2018 Oct 27. No abstract available.

PMID:
30472412
5.

A novel nonsense autosomal dominant mutation in the GLRA1 gene causing hyperekplexia.

Milenkovic I, Zimprich A, Gencik M, Platho-Elwischger K, Seidel S.

J Neural Transm (Vienna). 2018 Dec;125(12):1877-1883. doi: 10.1007/s00702-018-1924-y. Epub 2018 Sep 4.

PMID:
30182260
6.

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.

7.

Reply: No evidence for rare TRAP1 mutations influencing the risk of idiopathic Parkinson's disease.

Fitzgerald JC, Zimprich A, Reddy Bobbili D, Sharma M, May P, Krüger R.

Brain. 2018 Mar 1;141(3):e17. doi: 10.1093/brain/awx380. No abstract available.

PMID:
29373630
8.

Assessing Sociability, Social Memory, and Pup Retrieval in Mice.

Zimprich A, Niessing J, Cohen L, Garrett L, Einicke J, Sperling B, Schmidt MV, Hölter SM.

Curr Protoc Mouse Biol. 2017 Dec 20;7(7):287-305. doi: 10.1002/cpmo.36.

PMID:
29261230
9.

Mutations outside the N-terminal part of RBCK1 may cause polyglucosan body myopathy with immunological dysfunction: expanding the genotype-phenotype spectrum.

Krenn M, Salzer E, Simonitsch-Klupp I, Rath J, Wagner M, Haack TB, Strom TM, Schänzer A, Kilimann MW, Schmidt RLJ, Schmetterer KG, Zimprich A, Boztug K, Hahn A, Zimprich F.

J Neurol. 2018 Feb;265(2):394-401. doi: 10.1007/s00415-017-8710-x. Epub 2017 Dec 19.

10.

Metformin reverses TRAP1 mutation-associated alterations in mitochondrial function in Parkinson's disease.

Fitzgerald JC, Zimprich A, Carvajal Berrio DA, Schindler KM, Maurer B, Schulte C, Bus C, Hauser AK, Kübler M, Lewin R, Bobbili DR, Schwarz LM, Vartholomaiou E, Brockmann K, Wüst R, Madlung J, Nordheim A, Riess O, Martins LM, Glaab E, May P, Schenke-Layland K, Picard D, Sharma M, Gasser T, Krüger R.

Brain. 2017 Sep 1;140(9):2444-2459. doi: 10.1093/brain/awx202.

PMID:
29050400
11.

Understanding gene functions and disease mechanisms: Phenotyping pipelines in the German Mouse Clinic.

Fuchs H, Aguilar-Pimentel JA, Amarie OV, Becker L, Calzada-Wack J, Cho YL, Garrett L, Hölter SM, Irmler M, Kistler M, Kraiger M, Mayer-Kuckuk P, Moreth K, Rathkolb B, Rozman J, da Silva Buttkus P, Treise I, Zimprich A, Gampe K, Hutterer C, Stöger C, Leuchtenberger S, Maier H, Miller M, Scheideler A, Wu M, Beckers J, Bekeredjian R, Brielmeier M, Busch DH, Klingenspor M, Klopstock T, Ollert M, Schmidt-Weber C, Stöger T, Wolf E, Wurst W, Yildirim AÖ, Zimmer A, Gailus-Durner V, Hrabě de Angelis M.

Behav Brain Res. 2018 Oct 15;352:187-196. doi: 10.1016/j.bbr.2017.09.048. Epub 2017 Sep 29. Review.

PMID:
28966146
12.

Alterations in neuronal control of body weight and anxiety behavior by glutathione peroxidase 4 deficiency.

Schriever SC, Zimprich A, Pfuhlmann K, Baumann P, Giesert F, Klaus V, Kabra DG, Hafen U, Romanov A, Tschöp MH, Wurst W, Conrad M, Hölter SM, Vogt Weisenhorn D, Pfluger PT.

Neuroscience. 2017 Aug 15;357:241-254. doi: 10.1016/j.neuroscience.2017.05.050. Epub 2017 Jun 13.

PMID:
28627418
13.

The pathogenic LRRK2 R1441C mutation induces specific deficits modeling the prodromal phase of Parkinson's disease in the mouse.

Giesert F, Glasl L, Zimprich A, Ernst L, Piccoli G, Stautner C, Zerle J, Hölter SM, Vogt Weisenhorn DM, Wurst W.

Neurobiol Dis. 2017 Sep;105:179-193. doi: 10.1016/j.nbd.2017.05.013. Epub 2017 May 31.

PMID:
28576705
14.

Analysis of locomotor behavior in the German Mouse Clinic.

Zimprich A, Östereicher MA, Becker L, Dirscherl P, Ernst L, Fuchs H, Gailus-Durner V, Garrett L, Giesert F, Glasl L, Hummel A, Rozman J, de Angelis MH, Vogt-Weisenhorn D, Wurst W, Hölter SM.

J Neurosci Methods. 2018 Apr 15;300:77-91. doi: 10.1016/j.jneumeth.2017.05.005. Epub 2017 May 5.

PMID:
28483715
15.

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
16.

Serum Response Factor (SRF) Ablation Interferes with Acute Stress-Associated Immediate and Long-Term Coping Mechanisms.

Zimprich A, Mroz G, Meyer Zu Reckendorf C, Anastasiadou S, Förstner P, Garrett L, Hölter SM, Becker L, Rozman J, Prehn C, Rathkolb B, Moreth K, Wurst W, Klopstock T, Klingenspor M, Adamski J, Wolf E, Bekeredjian R, Fuchs H, Gailus-Durner V, de Angelis MH, Knöll B.

Mol Neurobiol. 2017 Dec;54(10):8242-8262. doi: 10.1007/s12035-016-0300-x. Epub 2016 Dec 2.

PMID:
27914009
17.

Analysis of Plasminogen Genetic Variants in Multiple Sclerosis Patients.

Sadovnick AD, Traboulsee AL, Bernales CQ, Ross JP, Forwell AL, Yee IM, Guillot-Noel L, Fontaine B, Cournu-Rebeix I, Alcina A, Fedetz M, Izquierdo G, Matesanz F, Hilven K, Dubois B, Goris A, Astobiza I, Alloza I, Antigüedad A, Vandenbroeck K, Akkad DA, Aktas O, Blaschke P, Buttmann M, Chan A, Epplen JT, Gerdes LA, Kroner A, Kubisch C, Kümpfel T, Lohse P, Rieckmann P, Zettl UK, Zipp F, Bertram L, Lill CM, Fernandez O, Urbaneja P, Leyva L, Alvarez-Cermeño JC, Arroyo R, Garagorri AM, García-Martínez A, Villar LM, Urcelay E, Malhotra S, Montalban X, Comabella M, Berger T, Fazekas F, Reindl M, Schmied MC, Zimprich A, Vilariño-Güell C.

G3 (Bethesda). 2016 Jul 7;6(7):2073-9. doi: 10.1534/g3.116.030841.

18.

The c.65-2A>G splice site mutation is associated with a mild phenotype in Danon disease due to the transcription of normal LAMP2 mRNA.

Cetin H, Wöhrer A, Rittelmeyer I, Gencik M, Zulehner G, Zimprich F, Ströbel T, Zimprich A.

Clin Genet. 2016 Oct;90(4):366-71. doi: 10.1111/cge.12724. Epub 2016 Feb 3.

PMID:
26748608
19.

Assessing Cognition in Mice.

Hölter SM, Garrett L, Einicke J, Sperling B, Dirscherl P, Zimprich A, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Wurst W.

Curr Protoc Mouse Biol. 2015 Dec 2;5(4):331-358. doi: 10.1002/9780470942390.mo150068.

PMID:
26629775
20.

Tests for Anxiety-Related Behavior in Mice.

Hölter SM, Einicke J, Sperling B, Zimprich A, Garrett L, Fuchs H, Gailus-Durner V, Hrabé de Angelis M, Wurst W.

Curr Protoc Mouse Biol. 2015 Dec 2;5(4):291-309. doi: 10.1002/9780470942390.mo150010.

PMID:
26629773
21.

Conditional Reduction of Adult Born Doublecortin-Positive Neurons Reversibly Impairs Selective Behaviors.

Garrett L, Zhang J, Zimprich A, Niedermeier KM, Fuchs H, Gailus-Durner V, Hrabě de Angelis M, Vogt Weisenhorn D, Wurst W, Hölter SM.

Front Behav Neurosci. 2015 Nov 12;9:302. doi: 10.3389/fnbeh.2015.00302. eCollection 2015.

22.

Genome-wide significant association with seven novel multiple sclerosis risk loci.

Lill CM, Luessi F, Alcina A, Sokolova EA, Ugidos N, de la Hera B, Guillot-Noël L, Malhotra S, Reinthaler E, Schjeide BM, Mescheriakova JY, Mashychev A, Wohlers I, Akkad DA, Aktas O, Alloza I, Antigüedad A, Arroyo R, Astobiza I, Blaschke P, Boyko AN, Buttmann M, Chan A, Dörner T, Epplen JT, Favorova OO, Fedetz M, Fernández O, García-Martínez A, Gerdes LA, Graetz C, Hartung HP, Hoffjan S, Izquierdo G, Korobko DS, Kroner A, Kubisch C, Kümpfel T, Leyva L, Lohse P, Malkova NA, Montalban X, Popova EV, Rieckmann P, Rozhdestvenskii AS, Schmied C, Smagina IV, Tsareva EY, Winkelmann A, Zettl UK, Binder H, Cournu-Rebeix I, Hintzen R, Zimprich A, Comabella M, Fontaine B, Urcelay E, Vandenbroeck K, Filipenko M, Matesanz F, Zipp F, Bertram L.

J Med Genet. 2015 Dec;52(12):848-55. doi: 10.1136/jmedgenet-2015-103442. Epub 2015 Oct 16.

PMID:
26475045
23.

Analysis of mammalian gene function through broad-based phenotypic screens across a consortium of mouse clinics.

de Angelis MH, Nicholson G, Selloum M, White J, Morgan H, Ramirez-Solis R, Sorg T, Wells S, Fuchs H, Fray M, Adams DJ, Adams NC, Adler T, Aguilar-Pimentel A, Ali-Hadji D, Amann G, André P, Atkins S, Auburtin A, Ayadi A, Becker J, Becker L, Bedu E, Bekeredjian R, Birling MC, Blake A, Bottomley J, Bowl M, Brault V, Busch DH, Bussell JN, Calzada-Wack J, Cater H, Champy MF, Charles P, Chevalier C, Chiani F, Codner GF, Combe R, Cox R, Dalloneau E, Dierich A, Di Fenza A, Doe B, Duchon A, Eickelberg O, Esapa CT, El Fertak L, Feigel T, Emelyanova I, Estabel J, Favor J, Flenniken A, Gambadoro A, Garrett L, Gates H, Gerdin AK, Gkoutos G, Greenaway S, Glasl L, Goetz P, Da Cruz IG, Götz A, Graw J, Guimond A, Hans W, Hicks G, Hölter SM, Höfler H, Hancock JM, Hoehndorf R, Hough T, Houghton R, Hurt A, Ivandic B, Jacobs H, Jacquot S, Jones N, Karp NA, Katus HA, Kitchen S, Klein-Rodewald T, Klingenspor M, Klopstock T, Lalanne V, Leblanc S, Lengger C, le Marchand E, Ludwig T, Lux A, McKerlie C, Maier H, Mandel JL, Marschall S, Mark M, Melvin DG, Meziane H, Micklich K, Mittelhauser C, Monassier L, Moulaert D, Muller S, Naton B, Neff F, Nolan PM, Nutter LM, Ollert M, Pavlovic G, Pellegata NS, Peter E, Petit-Demoulière B, Pickard A, Podrini C, Potter P, Pouilly L, Puk O, Richardson D, Rousseau S, Quintanilla-Fend L, Quwailid MM, Racz I, Rathkolb B, Riet F, Rossant J, Roux M, Rozman J, Ryder E, Salisbury J, Santos L, Schäble KH, Schiller E, Schrewe A, Schulz H, Steinkamp R, Simon M, Stewart M, Stöger C, Stöger T, Sun M, Sunter D, Teboul L, Tilly I, Tocchini-Valentini GP, Tost M, Treise I, Vasseur L, Velot E, Vogt-Weisenhorn D, Wagner C, Walling A, Weber B, Wendling O, Westerberg H, Willershäuser M, Wolf E, Wolter A, Wood J, Wurst W, Yildirim AÖ, Zeh R, Zimmer A, Zimprich A; EUMODIC Consortium, Holmes C, Steel KP, Herault Y, Gailus-Durner V, Mallon AM, Brown SD.

Nat Genet. 2015 Sep;47(9):969-978. doi: 10.1038/ng.3360. Epub 2015 Jul 27.

24.

Rare variants in β-Amyloid precursor protein (APP) and Parkinson's disease.

Schulte EC, Fukumori A, Mollenhauer B, Hor H, Arzberger T, Perneczky R, Kurz A, Diehl-Schmid J, Hüll M, Lichtner P, Eckstein G, Zimprich A, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Lorenzo-Betancor O, Pastor P, Peters A, Gieger C, Estivill X, Meitinger T, Kretzschmar HA, Trenkwalder C, Haass C, Winkelmann J.

Eur J Hum Genet. 2015 Oct;23(10):1328-33. doi: 10.1038/ejhg.2014.300. Epub 2015 Jan 21.

25.

Targeted resequencing and systematic in vivo functional testing identifies rare variants in MEIS1 as significant contributors to restless legs syndrome.

Schulte EC, Kousi M, Tan PL, Tilch E, Knauf F, Lichtner P, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Hornyak M, Oertel WH, Bachmann CG, Zimprich A, Peters A, Gieger C, Meitinger T, Müller-Myhsok B, Katsanis N, Winkelmann J.

Am J Hum Genet. 2014 Jul 3;95(1):85-95. doi: 10.1016/j.ajhg.2014.06.005.

26.

Blood cis-eQTL analysis fails to identify novel association signals among sub-threshold candidates from genome-wide association studies in restless legs syndrome.

Schulte EC, Schramm K, Schurmann C, Lichtner P, Herder C, Roden M, Gieger C, Peters A, Trenkwalder C, Högl B, Frauscher B, Berger K, Fietze I, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Zimprich A, Völzke H, Schminke U, Nauck M, Illig T, Meitinger T, Müller-Myhsok B, Prokisch H, Winkelmann J.

PLoS One. 2014 May 29;9(5):e98092. doi: 10.1371/journal.pone.0098092. eCollection 2014.

27.

A robust and reliable non-invasive test for stress responsivity in mice.

Zimprich A, Garrett L, Deussing JM, Wotjak CT, Fuchs H, Gailus-Durner V, de Angelis MH, Wurst W, Hölter SM.

Front Behav Neurosci. 2014 Apr 15;8:125. doi: 10.3389/fnbeh.2014.00125. eCollection 2014.

28.

A genetic polymorphism of the endogenous opioid dynorphin modulates monetary reward anticipation in the corticostriatal loop.

Votinov M, Pripfl J, Windischberger C, Kalcher K, Zimprich A, Zimprich F, Moser E, Lamm C, Sailer U.

PLoS One. 2014 Feb 25;9(2):e89954. doi: 10.1371/journal.pone.0089954. eCollection 2014.

29.

VPS35 Parkinson's disease phenotype resembles the sporadic disease.

Struhal W, Presslauer S, Spielberger S, Zimprich A, Auff E, Bruecke T, Poewe W, Ransmayr G; Austrian VPS-35 Investigators Team.

J Neural Transm (Vienna). 2014 Jul;121(7):755-9. doi: 10.1007/s00702-014-1179-1. Epub 2014 Feb 21. Review.

PMID:
24557499
30.

Rare variants in PLXNA4 and Parkinson's disease.

Schulte EC, Stahl I, Czamara D, Ellwanger DC, Eck S, Graf E, Mollenhauer B, Zimprich A, Lichtner P, Haubenberger D, Pirker W, Brücke T, Bereznai B, Molnar MJ, Peters A, Gieger C, Müller-Myhsok B, Trenkwalder C, Winkelmann J.

PLoS One. 2013 Nov 11;8(11):e79145. doi: 10.1371/journal.pone.0079145. eCollection 2013.

31.

Rare variants in LRRK1 and Parkinson's disease.

Schulte EC, Ellwanger DC, Dihanich S, Manzoni C, Stangl K, Schormair B, Graf E, Eck S, Mollenhauer B, Haubenberger D, Pirker W, Zimprich A, Brücke T, Lichtner P, Peters A, Gieger C, Trenkwalder C, Mewes HW, Meitinger T, Lewis PA, Klünemann HH, Winkelmann J.

Neurogenetics. 2014 Mar;15(1):49-57. doi: 10.1007/s10048-013-0383-8. Epub 2013 Nov 16.

32.

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
33.

Reply: autosomal recessive epilepsy associated with contactin 2 mutation is different from familial cortical tremor, myoclonus and epilepsy.

Stogmann E, Zimprich A, Zimprich F.

Brain. 2013 Oct;136(Pt 10):e254. doi: 10.1093/brain/awt141. Epub 2013 Jun 25. No abstract available.

PMID:
23803302
34.

Association of the chromosome 11q13.5 variant with atopic dermatitis in Austrian patients.

Greisenegger EK, Zimprich F, Zimprich A, Gleiss A, Kopp T.

Eur J Dermatol. 2013 Apr 1;23(2):142-5. doi: 10.1684/ejd.2013.1955.

PMID:
23557745
35.

Autosomal recessive cortical myoclonic tremor and epilepsy: association with a mutation in the potassium channel associated gene CNTN2.

Stogmann E, Reinthaler E, Eltawil S, El Etribi MA, Hemeda M, El Nahhas N, Gaber AM, Fouad A, Edris S, Benet-Pages A, Eck SH, Pataraia E, Mei D, Brice A, Lesage S, Guerrini R, Zimprich F, Strom TM, Zimprich A.

Brain. 2013 Apr;136(Pt 4):1155-60. doi: 10.1093/brain/awt068. Epub 2013 Mar 21.

PMID:
23518707
36.

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.

Mov Disord. 2013 Apr;28(4):538-40. doi: 10.1002/mds.25349. Epub 2013 Feb 13.

PMID:
23408458
37.

Genetic characterization of northeastern Italian population isolates in the context of broader European genetic diversity.

Esko T, Mezzavilla M, Nelis M, Borel C, Debniak T, Jakkula E, Julia A, Karachanak S, Khrunin A, Kisfali P, Krulisova V, Aušrelé Kučinskiené Z, Rehnström K, Traglia M, Nikitina-Zake L, Zimprich F, Antonarakis SE, Estivill X, Glavač D, Gut I, Klovins J, Krawczak M, Kučinskas V, Lathrop M, Macek M, Marsal S, Meitinger T, Melegh B, Limborska S, Lubinski J, Paolotie A, Schreiber S, Toncheva D, Toniolo D, Wichmann HE, Zimprich A, Metspalu M, Gasparini P, Metspalu A, D'Adamo P.

Eur J Hum Genet. 2013 Jun;21(6):659-65. doi: 10.1038/ejhg.2012.229. Epub 2012 Dec 19.

38.

A multi-centre clinico-genetic analysis of the VPS35 gene in Parkinson disease indicates reduced penetrance for disease-associated variants.

Sharma M, Ioannidis JP, Aasly JO, Annesi G, Brice A, Bertram L, Bozi M, Barcikowska M, Crosiers D, Clarke CE, Facheris MF, Farrer M, Garraux G, Gispert S, Auburger G, Vilariño-Güell C, Hadjigeorgiou GM, Hicks AA, Hattori N, Jeon BS, Jamrozik Z, Krygowska-Wajs A, Lesage S, Lill CM, Lin JJ, Lynch T, Lichtner P, Lang AE, Libioulle C, Murata M, Mok V, Jasinska-Myga B, Mellick GD, Morrison KE, Meitnger T, Zimprich A, Opala G, Pramstaller PP, Pichler I, Park SS, Quattrone A, Rogaeva E, Ross OA, Stefanis L, Stockton JD, Satake W, Silburn PA, Strom TM, Theuns J, Tan EK, Toda T, Tomiyama H, Uitti RJ, Van Broeckhoven C, Wirdefeldt K, Wszolek Z, Xiromerisiou G, Yomono HS, Yueh KC, Zhao Y, Gasser T, Maraganore D, Krüger R; GEOPD consortium.

J Med Genet. 2012 Nov;49(11):721-6. doi: 10.1136/jmedgenet-2012-101155. Erratum in: J Med Genet. 2013 Mar;50(3):202.

39.

Variants in eukaryotic translation initiation factor 4G1 in sporadic Parkinson's disease.

Schulte EC, Mollenhauer B, Zimprich A, Bereznai B, Lichtner P, Haubenberger D, Pirker W, Brücke T, Molnar MJ, Peters A, Gieger C, Trenkwalder C, Winkelmann J.

Neurogenetics. 2012 Aug;13(3):281-5. doi: 10.1007/s10048-012-0334-9. Epub 2012 Jun 16.

PMID:
22707335
40.

Phenocopies in families with essential tremor and restless legs syndrome challenge Mendelian laws. Epigenetics might provide answers.

Zimprich A.

Parkinsonism Relat Disord. 2012 Jul;18(6):711-6. doi: 10.1016/j.parkreldis.2012.03.019. Epub 2012 Apr 19.

PMID:
22521244
41.

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
42.

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
43.

Genome-wide association study identifies novel restless legs syndrome susceptibility loci on 2p14 and 16q12.1.

Winkelmann J, Czamara D, Schormair B, Knauf F, Schulte EC, Trenkwalder C, Dauvilliers Y, Polo O, Högl B, Berger K, Fuhs A, Gross N, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Xiong L, Montplaisir J, Rouleau GA, Fietze I, Vávrová J, Kemlink D, Sonka K, Nevsimalova S, Lin SC, Wszolek Z, Vilariño-Güell C, Farrer MJ, Gschliesser V, Frauscher B, Falkenstetter T, Poewe W, Allen RP, Earley CJ, Ondo WG, Le WD, Spieler D, Kaffe M, Zimprich A, Kettunen J, Perola M, Silander K, Cournu-Rebeix I, Francavilla M, Fontenille C, Fontaine B, Vodicka P, Prokisch H, Lichtner P, Peppard P, Faraco J, Mignot E, Gieger C, Illig T, Wichmann HE, Müller-Myhsok B, Meitinger T.

PLoS Genet. 2011 Jul;7(7):e1002171. doi: 10.1371/journal.pgen.1002171. Epub 2011 Jul 14. Erratum in: PLoS Genet. 2011 Aug;7(8). doi: 10.1371/annotation/393ad2d3-df4f-4770-87bc-00bfabf79362.

44.

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.

45.

Genetics of Parkinson's disease and essential tremor.

Zimprich A.

Curr Opin Neurol. 2011 Aug;24(4):318-23. doi: 10.1097/WCO.0b013e3283484b87. Review.

PMID:
21734494
46.

Functional variant in complement C3 gene promoter and genetic susceptibility to temporal lobe epilepsy and febrile seizures.

Jamali S, Salzmann A, Perroud N, Ponsole-Lenfant M, Cillario J, Roll P, Roeckel-Trevisiol N, Crespel A, Balzar J, Schlachter K, Gruber-Sedlmayr U, Pataraia E, Baumgartner C, Zimprich A, Zimprich F, Malafosse A, Szepetowski P.

PLoS One. 2010 Sep 16;5(9). pii: e12740. doi: 10.1371/journal.pone.0012740.

47.

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.

48.

Analysis of four prevalent filaggrin mutations (R501X, 2282del4, R2447X and S3247X) in Austrian and German patients with atopic dermatitis.

Greisenegger E, Novak N, Maintz L, Bieber T, Zimprich F, Haubenberger D, Gleiss A, Stingl G, Kopp T, Zimprich A.

J Eur Acad Dermatol Venereol. 2010 May;24(5):607-10. doi: 10.1111/j.1468-3083.2009.03469.x. Epub 2009 Oct 23.

PMID:
19874431
49.

Clinical heterogeneity in 3 unrelated families linked to VCP p.Arg159His.

van der Zee J, Pirici D, Van Langenhove T, Engelborghs S, Vandenberghe R, Hoffmann M, Pusswald G, Van den Broeck M, Peeters K, Mattheijssens M, Martin JJ, De Deyn PP, Cruts M, Haubenberger D, Kumar-Singh S, Zimprich A, Van Broeckhoven C.

Neurology. 2009 Aug 25;73(8):626-32. doi: 10.1212/WNL.0b013e3181b389d9.

PMID:
19704082
50.

Analysis of the prodynorphin promoter polymorphism in atopic dermatitis and disease-related pruritus.

Greisenegger EK, Zimprich A, Zimprich F, Stingl G, Kopp T.

Clin Exp Dermatol. 2009 Aug;34(6):728-30. doi: 10.1111/j.1365-2230.2009.03225.x. Epub 2009 May 26.

PMID:
19486061

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