2008
Ahting U, Floss T, Uez N, Schneider-Lohmar I, Becker L, Kling E, Iuso A,
Bender A, de Angelis MH, Gailus-Durner V, Fuchs H, Meitinger T, Wurst W, Prokisch
H, Klopstock T. Neurological phenotype and reduced lifespan in heterozygous Tim23 knockout mice, the first mouse model of defective mitochondrial import.
Biochim Biophys Acta. 2008 Dec 9. [Epub ahead of print]
PMID: 19111522 [PubMed - as supplied by publisher]
Ambrosius U, Lietzenmaier S, Wehrle R, Wichniak A, Kalus S, Winkelmann J, Bettecken T, Holsboer F, Yassouridis A, Friess E. Heritability of sleep electroencephalogram. Biol Psychiatry. 64 (4):344-8 (2008)
Benussi L, Binetti G, Sina E, Gigola L, Bettecken T, Meitinger T, Ghidoni R. A novel deletion in progranulin gene is associated with FTDP-17 and CBS. Neurobiol Aging. 29 (3):427-35 (2008)
Bevan S, Dichgans M, Wichmann HE, Gschwendtner A, Meitinger T, Markus HS. Genetic variation in members of the leukotriene biosynthesis pathway confer an increased risk of ischemic stroke: a replication study in two independent populations. Stroke. 39 (4):1109-14 (2008)
Bouatia-Naji N, De Graeve F, Brönner G, Lecoeur C, Vatin V, Durand E, Lichtner P, Nguyen TT, Heude B, Weill J, Lévy-Marchal C, Hebebrand J, Froguel P, Meyre D.INS VNTR is not associated with childhood obesity in 1,023 families: a family-based study. Obesity (Silver Spring) 16 (6):1471-5. (2008)
Collin RW, de Heer AM, Oostrik J, Pauw RJ, Plantinga RF, Huygen PL, Admiraal R, de Brouwer AP, Strom TM, Cremers CW, Kremer H. Mid-frequency DFNA8/12 hearing loss caused by a synonymous TECTA mutation that affects an exonic splice enhancer. Eur J Hum Genet. 16:1430-6 (2008)
Collin RW, Littink KW, Klevering BJ, van den Born LI, Koenekoop RK, Zonneveld
MN, Blokland EA, Strom TM, Hoyng CB, den Hollander AI, Cremers FP. Identification of a 2 Mb human ortholog of Drosophila eyes shut/spacemaker that is mutated in patients with retinitis pigmentosa. Am J Hum Genet. 83(5):594-603 (2008)
Döring A, Gieger C, Mehta D, Gohlke H, Prokisch H, Coassin S, Fischer G, Henke K, Klopp N, Kronenberg F, Paulweber B, Pfeufer A, Rosskopf D, Völzke H, Illig T, Meitinger T, Wichmann HE, Meisinger C. SLC2A9 influences uric acid concentrations with pronounced sex-specific effects. Nat Genet 40:430-6 (2008)
Elstner M, Andreoli C, Ahting U, Tetko I, Klopstock T, Meitinger T, Prokisch H. MitoP2: An Integrative Tool for the Analysis of the Mitochondrial Proteome.
Mol Biotechnol. 40(3):306-315 (2008)
Elstner M, Schmidt C, Zingler VC, Prokisch H, Bettecken T, Elson JL, Rudolph G, Bender A, Halmagyi GM, Brandt T, Strupp M, Klopstock T. Mitochondrial 12S rRNA susceptibility mutations in aminoglycoside-associated and idiopathic bilateral vestibulopathy. Biochem Biophys Res Commun. 12;377(2):379-83 (2008)
Fatar M, Stroick M, Steffens M, Senn E, Reuter B, Bukow S, Griebe M, Alonso A, Lichtner P, Bugert P, Meitinger T, Wienker TF, Hennerici MG. Single-Nucleotide Polymorphisms of MMP-2 Gene in Stroke Subtypes. Cerebrovasc Dis 26(2):113-119 (2008)
Favor J, Gloeckner CJ, Neuhäuser-Klaus A, Pretsch W, Sandulache R, Saule S, Zaus I. Relationship of Pax6 activity levels to the extent of eye development in the
mouse, Mus musculus. Genetics. 179(3):1345-55 (2008)
Ganguly K, Favor J, Neuhäuser-Klaus A, Sandulache R, Puk O, Beckers J, Horsch M, Schädler S, Vogt Weisenhorn D, Wurst W, Graw J. Novel allele of crybb2 in the mouse and its expression in the brain. Invest Ophthalmol Vis Sci. 49(4):1533-41 (2008)
Gibson J, Tapper W, Cox D, Zhang W, Pfeufer A, Gieger C, Wichmann HE, Kääb S, Collins AR, Meitinger T, Morton N. A multimetric approach to analysis of genome-wide association by single markers and composite likelihood. Proc Natl Acad Sci U S A. 105 (7):2592-7 (2008)
Gieger C, Geistlinger L, Altmaier E, Hrabe de Angelis M, Kronenberg F, Meitinger T, Mewes H-W, Wichmann H-E, Weinberger K M., Adamski J., Illig T, Suhre K. Genetics meets metabolomics: a genome-wide association study of Metabolite profiles in human serum. Plos Genetics 4(11): e1000282, 1-12 (2008)
Gschwendtner A, Ripke S, Freilinger T, Lichtner P, Müller-Myhsok B, Wichmann HE, Meitinger T, Dichgans M. Genetic Variation in Soluble Epoxide Hydrolase (EPHX2) Is Associated With an Increased Risk of Ischemic Stroke in White Europeans. Stroke 39 (5): 1593-6 (2008)
Hinterseer M, Thomsen MB, Beckmann BM, Pfeufer A, Schimpf R, Wichmann HE, Steinbeck G, Vos MA, Kaab S. Beat-to-beat variability of QT intervals is increased in patients with drug-induced long-QT syndrome: a case control pilot study.
Eur Heart J. 29 (2):185-90 (2008)
Hoelter SM, Dalke C, Kallnik M, Becker L, Horsch M, Schrewe A, Favor J, Klopstock T, Beckers J, Ivandic B, Gailus-Durner V, Fuchs H, Hrabé de Angelis M,
Graw J, Wurst W. "Sighted C3H" mice--a tool for analysing the influence of vision on mouse behaviour? Front Biosci.13:5810-23 (2008)
Kemlink D, Plazzi G, Vetrugno R, Provini F, Polo O, Stiasny-Kolster K, Oertel W, Nevsimalova S, Sonka K, Högl B, Frauscher B, Hadjigeorgiou GM, Pramstaller PP, Lichtner P, Meitinger T, Müller-Myshok B, Winkelmann J, Montagna P. Suggestive evidence for linkage for restless legs syndrome on chromosome 19p13. Neurogenetics 9 (2):75-82 (2008)
Koolen DA, Sharp AJ, Hurst JA, Firth HV, Knight SJ, Goldenberg A, Saugier-Veber P, Pfundt R, Vissers LE, Destrée A, Grisart B, Rooms L, Van der Aa N, Field M, Hackett A, Bell K, Nowaczyk MJ, Mancini GM, Poddighe PJ, Schwartz CE, Rossi E, De Gregori M, Antonacci-Fulton LL, McLellan MD 2nd, Garrett JM, Wiechert MA, Miner TL, Crosby S, Ciccone R, Willatt L, Rauch A, Zenker M, Aradhya S, Manning MA, Strom TM, Wagenstaller J, Krepischi-Santos AC, Vianna-Morgante AM, Rosenberg C, Price SM, Stewart H, Shaw-Smith C, Brunner HG, Wilkie AO, Veltman JA, Zuffardi O, Eichler EE, de Vries BB. Clinical and molecular delineation of the 17q21.31 microdeletion syndrome. J Med Genet. 2008 Jul 30. [Epub ahead of print]
Kuhn KA, Knoll A, Mewes HW, Schwaiger M, Bode A, Broy M, Daniel H, Feussner H, Gradinger R, Hauner H, Höfler H, Holzmann B, Horsch A, Kemper A, Krcmar H, Kochs EF, Lange R, Leidl R, Mansmann U, Mayr EW, Meitinger T, Molls M, Navab N, Nüsslin F, Peschel C, Reiser M, Ring J, Rummeny EJ, Schlichter J, Schmid R, Wichmann HE, Ziegler S. Informatics and medicine. From molecules to populations. Methods Inf Med 47 (4):283-95 (2008)
Lieb W, Mayer B, König IR, Borwitzky I, Götz A, Kain S, Hengstenberg C, Linsel- Nitschke P, Fischer M, Döring A, Wichmann HE, Meitinger T, Kreutz R, Ziegler A, Schunkert H, Erdmann J. Lack of association between the MEF2A gene and myocardial infarction. Circulation 117 (2):185-91 (2008)
Linsel-Nitschke P, Götz A, Erdmann J, Braenne I, Braund P, Hengstenberg C, Stark K, Fischer M, Schreiber S, El Mokhtari NE, Schaefer A, Schrezenmeier J, Rubin D, Hinney A, Reinehr T, Roth C, Ortlepp J, Hanrath P, Hall AS, Mangino M, Lieb W, Lamina C, Heid IM, Doering A, Gieger C, Peters A, Meitinger T, Wichmann HE, König IR, Ziegler A, Kronenberg F, Samani NJ, Schunkert H; Wellcome Trust Case Control Consortium (WTCCC); Cardiogenics Consortium. Lifelong reduction of LDL-cholesterol related to a common variant in the LDL-receptor gene decreases the risk of coronary artery disease--a Mendelian Randomisation study. PLoS ONE. 3(8):e2986 (2008)
Loos RJ, Lindgren CM, Li S, Wheeler E, Zhao JH, Prokopenko I, Inouye M, Freathy RM, Attwood AP, Beckmann JS, Berndt SI; Prostate, Lung, Colorectal, and Ovarian (PLCO) Cancer Screening Trial, Jacobs KB, Chanock SJ, Hayes RB, Bergmann S, Bennett AJ, Bingham SA, Bochud M, Brown M, Cauchi S, Connell JM, Cooper C, Smith GD, Day I, Dina C, De S, Dermitzakis ET, Doney AS, Elliott KS, Elliott P, Evans DM, Sadaf Farooqi I, Froguel P, Ghori J, Groves CJ, Gwilliam R, Hadley D, Hall AS, Hattersley AT, Hebebrand J, Heid IM; KORA, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Herrera B, Hinney A, Hunt SE, Jarvelin MR, Johnson T, Jolley JD, Karpe F, Keniry A, Khaw KT, Luben RN, Mangino M, Marchini J, McArdle WL, McGinnis R, Meyre D, Munroe PB, Morris AD, Ness AR, Neville MJ, Nica AC, Ong KK, O'Rahilly S, Owen KR, Palmer CN, Papadakis K, Potter S, Pouta A, Qi L; Nurses' Health Study, Randall JC, Rayner NW, Ring SM, Sandhu MS, Scherag A, Sims MA, Song K, Soranzo N, Speliotes EK; Diabetes Genetics Initiative, Syddall HE, Teichmann SA, Timpson NJ, Tobias JH, Uda M; SardiNIA Study, Vogel CI, Wallace C, Waterworth DM, Weedon MN; Wellcome Trust Case Control Consortium, Willer CJ; FUSION, Wraight, Yuan X, Zeggini E, Hirschhorn JN, Strachan DP, Ouwehand WH, Caulfield MJ, Samani NJ, Frayling TM, Vollenweider P, Waeber G, Mooser V, Deloukas P, McCarthy MI, Wareham NJ, Barroso I, Jacobs KB, Chanock SJ, Hayes RB, Lamina C, Gieger C, Illig T, Meitinger T, Wichmann HE, Kraft P, Hankinson SE, Hunter DJ, Hu FB, Lyon HN, Voight BF, Ridderstrale M, Groop L, Scheet P, Sanna S, Abecasis GR, Albai G, Nagaraja R, Schlessinger D, Jackson AU, Tuomilehto J, Collins FS, Boehnke M, Mohlke KL.Common variants near MC4R are associated with fat mass, weight and risk of obesity. Nat Genet 40 (6):768-75 (2008)
Lücking CB, Lichtner P, Dichgans M, Illig T, Gieger C, Berg D, Gasser T. Polymorphisms in the proteasomal subunit alpha4 are not associated with Parkinson's disease. J Neurol 255 (3):441-442 (2008)
Lücking CB, Lichtner P, Kramer ER, Gieger C, Illig T, Dichgans M, Berg D, Gasser T. Polymorphisms in the receptor for GDNF (RET) are not associated with Parkinson's disease in Southern Germany. Neurobiol Aging. 2008 Apr 22. [Epub ahead of print]
Lyoo CH, Prokisch H, Meitinger T, Lee SY, Kim do H, Lee MS. Anticholinergic-responsive gait freezing in a patient with pantothenate kinase-associated neurodegeneration. Mov Disord 23 (2):283-4 (2008)
Muller TD, Reichwald K, Bronner G, Kirschner J, Nguyen TT, Scherag A, Herzog W, Herpertz-Dahlmann B, Lichtner P, Meitinger T, Platzer M, Schafer H, Hebebrand J, Hinney A. Lack of association of genetic variants in genes of the endocannabinoid system with anorexia nervosa. Child Adolesc Psychiatry Ment Health. 2008 Nov 17;2(1):33. [Epub ahead of print]
Prestel J, Gempel K, Hauser TK, Schweitzer K, Prokisch H, Ahting U, Freudenstein D, Bueltmann E, Naegele T, Berg D, Klopstock T, Gasser T. Clinical and molecular characterisation of a Parkinson family with a novel PINK1 mutation. J Neurol 255 (5):643-8 (2008)
Ramser J, Ahearn ME, Lenski C, Yariz KO, Hellebrand H, von Rhein M, Clark RD, Schmutzler RK, Lichtner P, Hoffman EP, Meindl A, Baumbach-Reardon L. Rare missense and synonymous variants in UBE1 are associated with X-linked infantile spinal muscular atrophy. Am J Hum Genet 82 (1):188-93 (2008)
Schormair B, Kemlink D, Roeske D, Eckstein G, Xiong L, Lichtner P, Ripke S, Trenkwalder C, Zimprich A, Stiasny-Kolster K, Oertel W, Bachmann CG, Paulus W, Högl B, Frauscher B, Gschliesser V, Poewe W, Peglau I, Vodicka P, Vávrová J, Sonka K, Nevsimalova S, Montplaisir J, Turecki G, Rouleau G, Gieger C, Illig T, Wichmann HE, Holsboer F, Müller Myhsok B, Meitinger T, Winkelmann J. PTPRD (protein tyrosine phosphatase receptor type delta) is associated with restless legs syndrome. Nat Genet 40 (8):946-8.(2008).
Schunkert H, Götz A, Braund P, McGinnis R, Tregouet DA, Mangino M, Linsel-Nitschke P, Cambien F, Hengstenberg C, Stark K, Blankenberg S, Tiret L,
Ducimetiere P, Keniry A, Ghori MJ, Schreiber S, El Mokhtari NE, Hall AS, Dixon
RJ, Goodall AH, Liptau H, Pollard H, Schwarz DF, Hothorn LA, Wichmann HE, König
IR, Fischer M, Meisinger C, Ouwehand W, Deloukas P, Thompson JR, Erdmann J,
Ziegler A, Samani NJ; Cardiogenics Consortium. Repeated replication and a prospective meta-analysis of the association between chromosome 9p21.3 and coronary artery disease. Circulation 117 (13):1675-84. (2008).
Sinner MF, Pfeufer A, Akyol M, Beckmann BM, Hinterseer M, Wacker A, Perz S, Sauter W, llig T, Näbauer M, Schmitt C, Wichmann HE, Schömig A, Steinbeck G, Meitinger T, Kääb S. The non-synonymous coding IKr-channel variant KCNH2-K897T is associated with atrial fibrillation: results from a systematic candidate gene-based analysis of KCNH2 (HERG). Eur Heart J 29:907-914 (2008)
Sharma M, Lichtner P, Kruger R, Berg D, Schulte C, Illig T, Riess O, Gasser T. Further delineation of the association signal on chromosome 5 from the first whole genome association study in Parkinson's disease. Neurobiol Aging. 2008 Feb 14
Stogmann E, El Tawil S, Wagenstaller J, Gaber A, Edris S, Abdelhady A, Assem-Hilger E, Leutmezer F, Bonelli S, Baumgartner C, Zimprich F, Strom TM, Zimprich A. A novel mutation in the MFSD8 gene in late infantile neuronal ceroid lipofuscinosis. Neurogenetics 10(1), 73-77 (2008)
Strom T.M., Jüppner H.: PHEX, FGF23, DMP1 and beyond. Curr. Opin. Nephrol. Hyp. 17 (4), 357-362 (2008)
Watanabe H, Koopmann TT, Le Scouarnec S, Yang T, Ingram CR, Schott JJ, Demolombe S, Probst V, Anselme F, Escande D, Wiesfeld AC, Pfeufer A, Kääb S, Wichmann HE, Hasdemir C, Aizawa Y, Wilde AA, Roden DM, Bezzina CR. Sodium channel beta1 subunit mutations associated with Brugada syndrome and cardiac conduction disease in humans. J Clin Invest 118:2260-8 (2008)
Weidinger S, Gieger C, Rodriguez E, Baurecht H, Mempel M, Klopp N, Gohlke H, Wagenpfeil S, Ollert M, Ring J, Behrendt H, Heinrich J, Novak N, Bieber T, Krämer U, Berdel D, von Berg A, Bauer CP, Herbarth O, Koletzko S, Prokisch H, Mehta D, Meitinger T, Depner M, von Mutius E, Liang L, Moffatt M, Cookson W, Kabesch M, Wichmann HE, Illig T. Genome-wide scan on total serum IgE levels identifies FCER1A as novel susceptibility locus. PLoS Genet. 4(8):e1000166, 1-9 (2008)
Wermter AK, Scherag A, Meyre D, Reichwald K, Durand E, Nguyen TT, Koberwitz K, Lichtner P, Meitinger T, Schäfer H, Hinney A, Froguel P, Hebebrand J, Brönner G. Preferential reciprocal transfer of paternal/maternal DLK1 alleles to obese children: first evidence of polar overdominance in humans. Eur J Hum Genet. 2008 Apr 9 [Epub ahead of print]
Winkelmann J. Genetics of restless legs syndrome. Curr Neurol Neurosci Rep 8 (3):211-6 (2008)
Winkelmann J, Müller-Myhsok B. Genetics of restless legs syndrome: a burning urge to move. Neurology 70 (9):664-5 (2008)
Winkelmann J, Lichtner P, Schormair B, Uhr M, Hauk S, Stiasny-Kolster K, Trenkwalder C, Paulus W, Peglau I, Eisensehr I, Illig T, Wichmann HE, Pfister H, Golic J, Bettecken T, Pütz B, Holsboer F, Meitinger T, Müller-Myhsok B. Variants in the neuronal nitric oxide synthase (nNOS, NOS1) gene are associated with restless legs syndrome. Mov Disord. 23(3):350-8 (2008)
Wjst M, Lichtner P, Meitinger T, Grimbacher B. STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. Eur J Hum Genet. DOI: 10.1038/ejhg.2008.169 (2008)
Yang P, Koopmann TT, Pfeufer A, Jalilzadeh S, Schulze-Bahr E, Kääb S, Wilde AA, Roden DM, Bezzina CR. Polymorphisms in the cardiac sodium channel promoter displaying variant in vitro expression activity. Eur J Hum Genet 16 (3):
350-7 (2008)
Zimprich F, Stogmann E, Bonelli S, Baumgartner C, Mueller JC, Meitinger T, Zimprich A, Strom TM. A functional polymorphism in the SCN1A gene is not associated with carbamazepine dosages in Austrian patients with epilepsy.
Epilepsia 49 (6):1108-9 (2008)
Zirn B, Hempel M, Hahn A, Neubauer B, Wagenstaller J, Rivera-Bruguès N, Strom TM, Köhler A. Polyneuropathy, scoliosis, tall stature, and oligodontia represent novel features of the interstitial 6p deletion phenotype. Am J Med Genet A. 146A:2960-5 (2008)