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Identification and functional analysis of novel THAP1 mutations.

Lohmann K., Uflacker N., Erogullari A., Lohnau T., Winkler S., Dendorfer A., Schneider S.A., Osmanovic A., Svetel M., Ferbert A. et al.

Eur. J. Hum. Genet. 20:171-175(2012) · UniProtKB (1)

Exercise training leads to a reduction of elevated myostatin levels in patients with chronic heart failure.

Lenk K., Erbs S., Hollriegel R., Beck E., Linke A., Gielen S., Winkler S.M., Sandri M., Hambrecht R., Schuler G. et al.

Eur J Prev Cardiol 19:404-411(2012) · Mapped (2)

Homozygous THAP1 mutations as cause of early-onset generalized dystonia.

Schneider S.A., Ramirez A., Shafiee K., Kaiser F.J., Erogullari A., Bruggemann N., Winkler S., Bahman I., Osmanovic A., Shafa M.A. et al.

Mov. Disord. 26:858-861(2011) · UniProtKB (1)

New familial heterozygous c 4066_4068 delTT 2 bp deletion of the SCN5A gene causing Brugada syndrome.

Mobius-Winkler S., Dahnert I., Hindricks G., Schuler G., Adams V.

Heart Rhythm 8:1224-1227(2011) · Mapped (14)

Independent and joint effects of the MAPT and SNCA genes in Parkinson disease.

Genetic Epidemiology of Parkinson's Disease (GEO-PD) Consortium
Elbaz A., Ross O.A., Ioannidis J.P., Soto-Ortolaza A.I., Moisan F., Aasly J., Annesi G., Bozi M., Brighina L., Chartier-Harlin M.C. et al.

Ann. Neurol. 69:778-792(2011) · Mapped (13)

Specific cytokine patterns of pulmonary tuberculosis in Central Africa.

Nemeth J., Winkler H.M., Boeck L., Adegnika A.A., Clement E., Mve T.M., Kremsner P.G., Winkler S.

Clin. Immunol. 138:50-59(2011) · Mapped (15)

Familial amyotrophic lateral sclerosis is associated with a mutation in D-amino acid oxidase.

Mitchell J., Paul P., Chen H.J., Morris A., Payling M., Falchi M., Habgood J., Panoutsou S., Winkler S., Tisato V. et al.

Proc. Natl. Acad. Sci. U.S.A. 107:7556-7561(2010) · Mapped (4)

Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome.

Engelhardt K.R., McGhee S., Winkler S., Sassi A., Woellner C., Lopez-Herrera G., Chen A., Kim H.S., Lloret M.G., Schulze I. et al.

J. Allergy Clin. Immunol. 124:1289-302.e4(2009) · Mapped (7)

ATP13A2 variants in early-onset Parkinson's disease patients and controls.

Djarmati A., Hagenah J., Reetz K., Winkler S., Behrens M.I., Pawlack H., Lohmann K., Ramirez A., Tadic V., Bruggemann N. et al.

Mov. Disord. 24:2104-2111(2009) · Mapped (5)

A toolkit for high-throughput, cross-species gene engineering in Drosophila.

Ejsmont R.K., Sarov M., Winkler S., Lipinski K.A., Tomancak P.

Nat. Methods 6:435-437(2009) · Mapped (10)

Mutations in THAP1 (DYT6) and generalised dystonia with prominent spasmodic dysphonia: a genetic screening study.

Djarmati A., Schneider S.A., Lohmann K., Winkler S., Pawlack H., Hagenah J., Bruggemann N., Zittel S., Fuchs T., Rakovic A. et al.

Lancet Neurol 8:447-452(2009) · Mapped (1)

Frequency of heterozygous Parkin mutations in healthy subjects: need for careful prospective follow-up examination of mutation carriers.

Bruggemann N., Mitterer M., Lanthaler A.J., Djarmati A., Hagenah J., Wiegers K., Winkler S., Pawlack H., Lohnau T., Pramstaller P.P. et al.

Parkinsonism Relat. Disord. 15:425-429(2009) · Mapped (15)

Myoclonus-dystonia due to maternal uniparental disomy.

Guettard E., Portnoi M.F., Lohmann-Hedrich K., Keren B., Rossignol S., Winkler S., El Kamel I., Leu S., Apartis E., Vidailhet M. et al.

Arch. Neurol. 65:1380-1385(2008) · Mapped (4)

Chromosomal assignment of canine THADA gene to CFA 10q25.

Soller J.T., Beuing C., Murua Escobar H., Winkler S., Reimann-Berg N., Drieschner N., Dolf G., Schelling C., Nolte I., Bullerdiek J.

Mol Cytogenet 1:11-11(2008) · UniProtKB (1)

Bilateral subthalamic stimulation in Parkin and PINK1 parkinsonism.

Moro E., Volkmann J., Konig I.R., Winkler S., Hiller A., Hassin-Baer S., Herzog J., Schnitzler A., Lohmann K., Pinsker M.O. et al.

Neurology 70:1186-1191(2008) · Mapped (5)

alpha-Synuclein and Parkinson disease susceptibility.

Winkler S., Hagenah J., Lincoln S., Heckman M., Haugarvoll K., Lohmann-Hedrich K., Kostic V., Farrer M., Klein C.

Neurology 69:1745-1750(2007) · Mapped (7)

Autosomal dominant myoclonus-dystonia and Tourette syndrome in a family without linkage to the SGCE gene.

Orth M., Djarmati A., Baumer T., Winkler S., Grunewald A., Lohmann-Hedrich K., Kabakci K., Hagenah J., Klein C., Munchau A.

Mov. Disord. 22:2090-2096(2007) · Mapped (4)

Role of ethnicity on the association of MAPT H1 haplotypes and subhaplotypes in Parkinson's disease.

Winkler S., Konig I.R., Lohmann-Hedrich K., Vieregge P., Kostic V., Klein C.

Eur. J. Hum. Genet. 15:1163-1168(2007) · Mapped (6)

Both T-786C and G894T polymorphism of endothelial nitric oxide synthase affect in-vitro endothelium-dependent relaxation of internal mammary artery rings from patients with coronary artery disease.

Erbs S., Mobius-Winkler S., Linke A., Adams V., Doll N., Gielen S., Gummert J.F., Mohr F.W., Schuler G., Hambrecht R.

Eur J Cardiovasc Prev Rehabil 13:826-831(2006) · Mapped (7)

Gef10--the third member of a Rho-specific guanine nucleotide exchange factor subfamily with unusual protein architecture.

Mohl M., Winkler S., Wieland T., Lutz S.

Naunyn Schmiedebergs Arch. Pharmacol. 373:333-341(2006) · Mapped (2)

Recurrent LRRK2 (Park8) mutations in early-onset Parkinson's disease.

Hedrich K., Winkler S., Hagenah J., Kabakci K., Kasten M., Schwinger E., Volkmann J., Pramstaller P.P., Kostic V., Vieregge P. et al.

Mov. Disord. 21:1506-1510(2006) · Mapped (4)

Cloning and characterization of the canine receptor for advanced glycation end products.

Murua Escobar H., Soller J.T., Sterenczak K.A., Sperveslage J.D., Schlueter C., Burchardt B., Eberle N., Fork M., Nimzyk R., Winkler S. et al.

Gene 369:45-52(2006) · UniProtKB (3)

GrinchGEF -- a novel Rho-specific guanine nucleotide exchange factor.

Winkler S., Mohl M., Wieland T., Lutz S.

Biochem. Biophys. Res. Commun. 335:1280-1286(2005) · UniProtKB (1) · Mapped (6)

PINK1, Parkin, and DJ-1 mutations in Italian patients with early-onset parkinsonism.

Klein C., Djarmati A., Hedrich K., Schaefer N., Scaglione C., Marchese R., Kock N., Schuele B., Hiller A., Lohnau T. et al.

Eur. J. Hum. Genet. 13:1086-1093(2005) · UniProtKB (1) · Mapped (1)

Target-selected mutant screen by TILLING in Drosophila.

Winkler S., Schwabedissen A., Backasch D., Bokel C., Seidel C., Bonisch S., Furthauer M., Kuhrs A., Cobreros L., Brand M. et al.

Genome Res. 15:718-723(2005) · Mapped (4)

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