1 - 25 of 152 results for author:"Meitinger T." in Literature citations
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| Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease. Kornblum C., Nicholls T.J., Haack T.B., Scholer S., Peeva V., Danhauser K., Hallmann K., Zsurka G., Rorbach J., Iuso A. et al. Nat. Genet. 45:214-219(2013) · UniProtKB (1) |
| Exome sequencing reveals de novo WDR45 mutations causing a phenotypically distinct, X-linked dominant form of NBIA. Haack T.B., Hogarth P., Kruer M.C., Gregory A., Wieland T., Schwarzmayr T., Graf E., Sanford L., Meyer E., Kara E. et al. Am. J. Hum. Genet. 91:1144-1149(2012) · Mapped (3) |
| DHTKD1 mutations cause 2-aminoadipic and 2-oxoadipic aciduria. Danhauser K., Sauer S.W., Haack T.B., Wieland T., Staufner C., Graf E., Zschocke J., Strom T.M., Traub T., Okun J.G. et al. Am. J. Hum. Genet. 91:1082-1087(2012) · Mapped (1) |
| Mutations of the mitochondrial-tRNA modifier MTO1 cause hypertrophic cardiomyopathy and lactic acidosis. Ghezzi D., Baruffini E., Haack T.B., Invernizzi F., Melchionda L., Dallabona C., Strom T.M., Parini R., Burlina A.B., Meitinger T. et al. Am. J. Hum. Genet. 90:1079-1087(2012) · UniProtKB (2) · Mapped (2) |
| Lack of the mitochondrial protein acylglycerol kinase causes Sengers syndrome. Mayr J.A., Haack T.B., Graf E., Zimmermann F.A., Wieland T., Haberberger B., Superti-Furga A., Kirschner J., Steinmann B., Baumgartner M.R. et al. Am. J. Hum. Genet. 90:314-320(2012) · UniProtKB (1) · Mapped (4) |
| Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9. Haack T.B., Madignier F., Herzer M., Lamantea E., Danhauser K., Invernizzi F., Koch J., Freitag M., Drost R., Hillier I. et al. J. Med. Genet. 49:83-89(2012) · Mapped (3) |
| A K(ATP) channel gene effect on sleep duration: from genome-wide association studies to function in Drosophila. Allebrandt K.V., Amin N., Muller-Myhsok B., Esko T., Teder-Laving M., Azevedo R.V., Hayward C., van Mill J., Vogelzangs N., Green E.W. et al. Mol. Psychiatry 18:122-132(2013) · UniProtKB (2) |
| A large candidate gene survey identifies the KCNE1 D85N polymorphism as a possible modulator of drug-induced torsades de pointes. Kaab S., Crawford D.C., Sinner M.F., Behr E.R., Kannankeril P.J., Wilde A.A., Bezzina C.R., Schulze-Bahr E., Guicheney P., Bishopric N.H. et al. Circ Cardiovasc Genet 5:91-99(2012) · Mapped (7) |
| Absence of an orphan mitochondrial protein, c19orf12, causes a distinct clinical subtype of neurodegeneration with brain iron accumulation. Hartig M.B., Iuso A., Haack T., Kmiec T., Jurkiewicz E., Heim K., Roeber S., Tarabin V., Dusi S., Krajewska-Walasek M. et al. Am. J. Hum. Genet. 89:543-550(2011) · UniProtKB (1) |
| A mutation in VPS35, encoding a subunit of the retromer complex, causes late-onset Parkinson disease. Zimprich A., Benet-Pages A., Struhal W., Graf E., Eck S.H., Offman M.N., Haubenberger D., Spielberger S., Schulte E.C., Lichtner P. et al. Am. J. Hum. Genet. 89:168-175(2011) · UniProtKB (1) · Mapped (2) |
| Variants in STAT5B associate with serum TC and LDL-C levels. Kornfeld J.W., Isaacs A., Vitart V., Pospisilik J.A., Meitinger T., Gyllensten U., Wilson J.F., Rudan I., Campbell H., Penninger J.M. et al. J. Clin. Endocrinol. Metab. 96:E1496-501(2011) · Mapped (3) |
| MEIS1 and BTBD9: genetic association with restless leg syndrome in end stage renal disease. Schormair B., Plag J., Kaffe M., Gross N., Czamara D., Samtleben W., Lichtner P., Strohle A., Stefanidis I., Vainas A. et al. J. Med. Genet. 48:462-466(2011) · Mapped (13) |
| Variant screening of the coding regions of MEIS1 in patients with restless legs syndrome. Schulte E.C., Knauf F., Kemlink D., Schormair B., Lichtner P., Gieger C., Meitinger T., Winkelmann J. Neurology 76:1106-1108(2011) · Mapped (9) |
| Common variants in P2RY11 are associated with narcolepsy. Kornum B.R., Kawashima M., Faraco J., Lin L., Rico T.J., Hesselson S., Axtell R.C., Kuipers H., Weiner K., Hamacher A. et al. Nat. Genet. 43:66-71(2011) · Mapped (1) |
| Novel association to the proprotein convertase PCSK7 gene locus revealed by analysing soluble transferrin receptor (sTfR) levels. Oexle K., Ried J.S., Hicks A.A., Tanaka T., Hayward C., Bruegel M., Gogele M., Lichtner P., Muller-Myhsok B., Doring A. et al. Hum. Mol. Genet. 20:1042-1047(2011) · Mapped (8) |
| Genome-wide association study identifies a new locus for coronary artery disease on chromosome 10p11.23. Erdmann J., Willenborg C., Nahrstaedt J., Preuss M., Konig I.R., Baumert J., Linsel-Nitschke P., Gieger C., Tennstedt S., Belcredi P. et al. Eur. Heart J. 32:158-168(2011) · Mapped (1) |
| Common variants in 22 loci are associated with QRS duration and cardiac ventricular conduction. Sotoodehnia N., Isaacs A., de Bakker P.I., Dorr M., Newton-Cheh C., Nolte I.M., van der Harst P., Muller M., Eijgelsheim M., Alonso A. et al. Nat. Genet. 42:1068-1076(2010) · Mapped (1) |
| Exome sequencing identifies ACAD9 mutations as a cause of complex I deficiency. Haack T.B., Danhauser K., Haberberger B., Hoser J., Strecker V., Boehm D., Uziel G., Lamantea E., Invernizzi F., Poulton J. et al. Nat. Genet. 42:1131-1134(2010) · Mapped (6) |
| Genetic association study identifies HSPB7 as a risk gene for idiopathic dilated cardiomyopathy. Stark K., Esslinger U.B., Reinhard W., Petrov G., Winkler T., Komajda M., Isnard R., Charron P., Villard E., Cambien F. et al. PLoS Genet. 6:e1001167-e1001167(2010) · Mapped (5) |
| Association analyses of 249,796 individuals reveal 18 new loci associated with body mass index. Procardis Consortium Nat. Genet. 42:937-948(2010) · Mapped (6) |
| Meta-analysis identifies 13 new loci associated with waist-hip ratio and reveals sexual dimorphism in the genetic basis of fat distribution. Heid I.M., Jackson A.U., Randall J.C., Winkler T.W., Qi L., Steinthorsdottir V., Thorleifsson G., Zillikens M.C., Speliotes E.K., Magi R. et al. Nat. Genet. 42:949-960(2010) · Mapped (60) |
| Risk gene variants for nicotine dependence in the CHRNA5-CHRNA3-CHRNB4 cluster are associated with cognitive performance. Winterer G., Mittelstrass K., Giegling I., Lamina C., Fehr C., Brenner H., Breitling L.P., Nitz B., Raum E., Muller H. et al. Am. J. Med. Genet. B Neuropsychiatr. Genet. 153B:1448-1458(2010) · Mapped (10) |
| Common variants at 10 genomic loci influence hemoglobin A(1)(C) levels via glycemic and nonglycemic pathways. Soranzo N., Sanna S., Wheeler E., Gieger C., Radke D., Dupuis J., Bouatia-Naji N., Langenberg C., Prokopenko I., Stolerman E. et al. Diabetes 59:3229-3239(2010) · Mapped (36) |
| Genome-wide association study of migraine implicates a common susceptibility variant on 8q22.1. International Headache Genetics Consortium Nat. Genet. 42:869-873(2010) · Mapped (1) |
| Genome-wide association studies of serum magnesium, potassium, and sodium concentrations identify six Loci influencing serum magnesium levels. Genetic Factors for Osteoporosis Consortium PLoS Genet. 6:0-0(2010) · Mapped (16) |