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Publications by Prokisch, Holger

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Number of items: 33.

Journal article

Danhauser, Katharina; Alhaddad, Bader; Makowski, Christine; Piekutowska-Abramczuk, Dorota; Syrbe, Steffen; Gomez-Ospina, Natalia; Manning, Melanie A.; Kostera-Pruszczyk, Anna; Krahn-Peper, Claudia; Berutti, Riccardo; Kovacs-Nagy, Reka; Gusic, Mirjana; Graf, Elisabeth; Laugwitz, Lucia; Roeblitz, Michaela; Wroblewski, Andreas; Hartmann, Hans; Das, Anibh M.; Bueltmann, Eva; Fang, Fang; Xu, Manting; Schatz, Ulrich A.; Karall, Daniela; Zellner, Herta; Haberlandt, Edda; Feichtinger, Rene G.; Mayr, Johannes A.; Meitinger, Thomas; Prokisch, Holger; Strom, Tim M.; Ploski, Rafal; Hoffmann, Georg F.; Pronicki, Maciej; Bonnen, Penelope E.; Morlot, Susanne; Haack, Tobias B. (2018): Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy. In: American Journal of Human Genetics, Vol. 103, No. 5: pp. 817-825

Repp, Birgit M.; Mastantuono, Elisa; Alston, Charlotte L.; Schiff, Manuel; Haack, Tobias B.; Rotig, Agnes; Ardissone, Anna; Lombes, Anne; Catarino, Claudia B.; Diodato, Daria; Schottmann, Gudrun; Poulton, Joanna; Burlina, Alberto; Jonckheere, An; Munnich, Arnold; Rolinski, Boris; Ghezzi, Daniele; Rokicki, Dariusz; Wellesley, Diana; Martinelli, Diego; Wenhong, Ding; Lamantea, Eleonora; Ostergaard, Elsebet; Pronicka, Ewa; Pierre, Germaine; Smeets, Hubert J. M.; Wittig, Ilka; Scurr, Ingrid; Coo, Irenaeus F. M. de; Moroni, Isabella; Smet, Joel; Mayr, Johannes A.; Dai, Lifang; Meirleir, Linda de; Schülke, Markus; Zeviani, Massimo; Morscher, Raphael J.; McFarland, Robert; Seneca, Sara; Klopstock, Thomas; Meitinger, Thomas; Wieland, Thomas; Strom, Tim M.; Herberg, Ulrike; Ahting, Uwe; Sperl, Wolfgang; Nassogne, Marie-Cecile; Ling, Han; Fang, Fang; Freisinger, Peter; Coster, Rudy van; Strecker, Valentina; Taylor, Robert W.; Häberle, Johannes; Vockley, Jerry; Prokisch, Holger; Wortmann, Saskia (2018): Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? In: Orphanet Journal of Rare Diseases, Vol. 13, 120

Xu, Zhiwen; Lo, Wing-Sze; Beck, David B.; Schuch, Luise A.; Olahova, Monika; Kopajtich, Robert; Chong, Yeeting E.; Alston, Charlotte L.; Seidl, Elias; Zhai, Liting; Lau, Ching-Fun; Timchak, Donna; LeDuc, Charles A.; Borczuk, Alain C.; Teich, Andrew F.; Juusola, Jane; Sofeso, Christina; Müller, Christoph; Pierre, Germaine; Hilliard, Tom; Turnpenny, Peter D.; Wagner, Matias; Kappler, Matthias; Brasch, Frank; Bouffard, John Paul; Nangle, Leslie A.; Yang, Xiang-Lei; Zhang, Mingjie; Taylor, Robert W.; Prokisch, Holger; Griese, Matthias; Chung, Wendy K.; Schimmel, Paul (2018): Bi-allelic Mutations in Phe-tRNA Synthetase Associated with a Multi-system Pulmonary Disease Support Non-translational Function. In: American Journal of Human Genetics, Vol. 103, No. 1: pp. 100-114

Alhaddad, Bader; Schossig, Anna; Haack, Tobias B.; Kovacs-Nagy, Reka; Braunisch, Matthias C.; Makowski, Christine; Senderek, Jan; Vill, Katharina; Müller-Felber, Wolfgang; Strom, Tim M.; Krabichler, Birgit; Freisinger, Peter; Deshpande, Charu; Polster, Tilman; Wolf, Nicole; Desguerre, Isabelle; Wörmann, Friedrich; Rotig, Agnes; Ahting, Uwe; Kopajtich, Robert; Prokisch, Holger; Meitinger, Thomas; Feichtinger, Rene G.; Mayr, Johannes A.; Jungbluth, Heinz; Hubmann, Michael; Zschocke, Johannes; Distelmaier, Felix; Koch, Johannes (2018): PRUNE1 Deficiency: Expanding the Clinical and Genetic Spectrum. In: Neuropediatrics, Vol. 49, No. 5: pp. 330-338

Yepez, Vicente A.; Kremer, Laura S.; Iuso, Arcangela; Gusic, Mirjana; Kopajtich, Robert; Konarikova, Eliska; Nadel, Agnieszka; Wachutka, Leonhard; Prokisch, Holger; Gagneur, Julien (2018): OCR-Stats: Robust estimation and statistical testing of mitochondrial respiration activities using Seahorse XF Analyzer.
In: PLOS One 13(7), e0199938 [PDF, 3MB]

Brechtmann, Felix; Mertes, Christian; Matuseviciute, Agne; Yepez, Vicente A.; Avsec, Ziga; Herzog, Maximilian; Bader, Daniel M.; Prokisch, Holger; Gagneur, Julien (2018): OUTRIDER: A Statistical Method for Detecting Aberrantly Expressed Genes in RNA Sequencing Data. In: American Journal of Human Genetics, Vol. 103, No. 6: pp. 907-917

Catarino, Claudia B.; Ahting, Uwe; Gusic, Mirjana; Iuso, Arcangela; Repp, Birgit; Peters, Katrin; Biskup, Saskia; Livonius, Bettina von; Prokisch, Holger; Klopstock, Thomas (2017): Characterization of a Leber's hereditary optic neuropathy (LHON) family harboring two primary LHON mutations m.11778G > A and m.14484T > C of the mitochondrial DNA. In: Mitochondrion, Vol. 36: pp. 15-20

Kremer, Laura S.; Bader, Daniel M.; Mertes, Christian; Kopajtich, Robert; Pichler, Garwin; Iuso, Arcangela; Haack, Tobias B.; Graf, Elisabeth; Schwarzmayr, Thomas; Terrile, Caterina; Konarikova, Eliska; Repp, Birgit; Kastenmüller, Gabi; Adamski, Jerzy; Lichtner, Peter; Leonhardt, Christoph; Funalot, Benoit; Donati, Alice; Tiranti, Valeria; Lombes, Anne; Jardel, Claude; Glaeser, Dieter; Taylor, Robert W.; Ghezzi, Daniele; Mayr, Johannes A.; Rötig, Agnes; Freisinger, Peter; Distelmaier, Felix; Strom, Tim M.; Meitinger, Thomas; Gagneur, Julien; Prokisch, Holger (2017): Genetic diagnosis of Mendelian disorders via RNA sequencing. In: Nature Communications, Vol. 8, 15824 [PDF, 1MB]

Wahl, Simone; Drong, Alexander; Lehne, Benjamin; Loh, Marie; Scott, William R.; Kunze, Sonja; Tsai, Pei-Chien; Ried, Janina S.; Zhang, Weihua; Yang, Youwen; Tan, Sili; Fiorito, Giovanni; Franke, Lude; Guarrera, Simonetta; Kasela, Silva; Kriebel, Jennifer; Richmond, Rebecca C.; Adamo, Marco; Afzal, Uzma; Ala-Korpela, Mika; Albetti, Benedetta; Ammerpohl, Ole; Apperley, Jane F.; Beekman, Marian; Bertazzi, Pier Alberto; Black, S. Lucas; Blancher, Christine; Bonder, Marc-Jan; Brosch, Mario; Carstensen-Kirberg, Maren; Craen, Anton J. M. de; Lusignan, Simon de; Dehghan, Abbas; Elkalaawy, Mohamed; Fischer, Krista; Franco, Oscar H.; Gaunt, Tom R.; Hampe, Jochen; Hashemi, Majid; Isaacs, Aaron; Jenkinson, Andrew; Jha, Sujeet; Kato, Norihiro; Krogh, Vittorio; Laffan, Michael; Meisinger, Christa; Meitinger, Thomas; Mok, Zuan Yu; Motta, Valeria; Ng, Hong Kiat; Nikolakopoulou, Zacharoula; Nteliopoulos, Georgios; Panico, Salvatore; Pervjakova, Natalia; Prokisch, Holger; Rathmann, Wolfgang; Roden, Michael; Rota, Federica; Rozario, Michelle Ann; Sandling, Johanna K.; Schafmayer, Clemens; Schramm, Katharina; Siebert, Reiner; Slagboom, P. Eline; Soininen, Pasi; Stolk, Lisette; Strauch, Konstantin; Tai, E-Shyong; Tarantini, Letizia; Thorand, Barbara; Tigchelaar, Ettje F.; Tumino, Rosario; Uitterlinden, Andre G.; Duijn, Cornelia van; Meurs, Joyce B. J. van; Vineis, Paolo; Wickremasinghe, Ananda Rajitha; Wijmenga, Cisca; Yang, Tsun-Po; Yuan, Wei; Zhernakova, Alexandra; Batterham, Rachel L.; Smith, George Davey; Deloukas, Panos; Heijmans, Bastiaan T.; Herder, Christian; Hofman, Albert; Lindgren, Cecilia M.; Milani, Lili; Harst, Pim van der; Peters, Annette; Illig, Thomas; Relton, Caroline L.; Waldenberger, Melanie; Järvelin, Marjo-Riitta; Bollati, Valentina; Soong, Richie; Spector, Tim D.; Scott, James; McCarthy, Mark I.; Elliott, Paul; Bell, Jordana T.; Matullo, Giuseppe; Gieger, Christian; Kooner, Jaspal S.; Grallert, Harald; Chambers, John C. (2017): Epigenome-wide association study of body mass index, and the adverse outcomes of adiposity. In: Nature, Vol. 541, No. 7635: 81-+

Marzi, Carola; Holdt, Lesca M.; Fiorito, Giovanni; Tsai, Pei-Chien; Kretschmer, Anja; Wahl, Simone; Guarrera, Simonetta; Teupser, Daniel; Spector, Tim D.; Iacoviello, Licia; Sacerdote, Carlotta; Strauch, Konstantin; Lee, Serene; Thasler, Wolfgang E.; Peters, Annette; Thorand, Barbara; Wolf, Petra; Prokisch, Holger; Tumino, Rosario; Gieger, Christian; Krogh, Vittorio; Panico, Salvatore; Bell, Jordana T.; Matullo, Giuseppe; Waldenberger, Melanie; Grallert, Harald; Koenig, Wolfgang (2016): Epigenetic Signatures at AQP3 and SOCS3 Engage in Low-Grade Inflammation across Different Tissues.
In: PLOS ONE 11(11), e0166015 [PDF, 1MB]

Klopstock, Thomas; Klopstock, Barbara; Prokisch, Holger (2016): Mitochondrial replacement approaches: challenges for clinical implementation. In: Genome Medicine 8:126 [PDF, 301kB]

Kremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Küpper, Clemens; Mühlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, René; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger; Haack, Tobias B. (2016): Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy. In: American Journal of Human Genetics, Vol. 98, No. 2: pp. 358-362

Haack, Tobias B.; Ignatius, Erika; Calvo-Garrido, Javier; Iuso, Arcangela; Isohanni, Pirjo; Maffezzini, Camilla; Lönnqvist, Tuula; Suomalainen, Anu; Gorza, Matteo; Kremer, Laura S.; Graf, Elisabeth; Hartig, Monika; Berutti, Riccardo; Paucar, Martin; Svenningsson, Per; Stranneheim, Henrik; Brandberg, Göran; Wedell, Anna; Kurian, Manju A.; Hayflick, Susan A.; Venco, Paola; Tiranti, Valeria; Strom, Tim M.; Dichgans, Martin; Horvath, Rita; Holinski-Feder, Elke; Freyer, Christoph; Meitinger, Thomas; Prokisch, Holger; Senderek, Jan; Wredenberg, Anna; Carroll, Christopher J.; Klopstock, Thomas (2016): Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy. In: American Journal of Human Genetics, Vol. 99, No. 3: pp. 735-743

Kremer, Laura S.; Danhauser, Katharina; Herebian, Diran; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Müller-Felber, Wolfgang; Haack, Tobias B.; Ploski, Rafal; Lohmeier, Klaus; Schneider, Dominik; Klee, Dirk; Rokicki, Dariusz; Mayatepek, Ertan; Strom, Tim M.; Meitinger, Thomas; Klopstock, Thomas; Pronicka, Ewa; Mayr, Johannes A.; Baric, Ivo; Distelmaier, Felix; Prokisch, Holger (2016): NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood. In: American Journal of Human Genetics, Vol. 99, No. 4: pp. 894-902

Altmann, Judith; Büchner, Boriana; Nadaj-Pakleza, Aleksandra; Schäfer, Jochen; Jackson, Sandra; Lehmann, Diana; Deschauer, Marcus; Kopajtich, Robert; Lautenschläger, Ronald; Kuhn, Klaus A.; Karle, Kathrin; Schöls, Ludger; Schulz, Jörg B.; Weis, Joachim; Prokisch, Holger; Kornblum, Cornelia; Claeys, Kristl G.; Klopstock, Thomas (2016): Expanded phenotypic spectrum of the m.8344A > G "MERRF" mutation: data from the German mitoNET registry. In: Journal of Neurology, Vol. 263, No. 5: pp. 961-972

Franko, Andras; Huypens, Peter; Neschen, Susanne; Irmler, Martin; Rozman, Jan; Rathkolb, Birgit; Neff, Frauke; Prehn, Cornelia; Dubois, Guillaume; Baumann, Martina; Massinger, Rebecca; Gradinger, Daniel; Przemeck, Gerhard K. H.; Repp, Birgit; Aichler, Michaela; Feuchtinger, Annette; Schommers, Philipp; Stöhr, Oliver; Sanchez-Lasheras, Carmen; Adamski, Jerzy; Peter, Andreas; Prokisch, Holger; Beckers, Johannes; Walch, Axel K.; Fuchs, Helmut; Wolf, Eckhard; Schubert, Markus; Wiesner, Rudolf J.; de Angelis, Martin Hrabe (2016): Bezafibrate Improves Insulin Sensitivity and Metabolic Flexibility in STZ-Induced Diabetic Mice. In: Diabetes, Vol. 65, No. 9: pp. 2540-2552

Koch, Johannes; Freisinger, Peter; Feichtinger, Rene G.; Zimmermann, Franz A.; Rauscher, Christian; Wagentristl, Hans P.; Konstantopoulou, Vassiliki; Seidl, Rainer; Haack, Tobias B.; Prokisch, Holger; Ahting, Uwe; Sperl, Wolfgang; Mayr, Johannes A.; Maier, Esther M. (2015): Mutations in TTC19: expanding the molecular, clinical and biochemical phenotype. In: Orphanet Journal of Rare Diseases 10:40 [PDF, 2MB]

Homuth, Georg; Wahl, Simone; Müller, Christian; Schurmann, Claudia; Mäder, Ulrike; Blankenberg, Stefan; Carstensen, Maren; Dörr, Marcus; Endlich, Karlhans; Englbrecht, Christian; Felix, Stephan B.; Gieger, Christian; Grallert, Harald; Herder, Christian; Illig, Thomas; Kruppa, Jochen; Marzi, Carola S.; Mayerle, Julia; Meitinger, Thomas; Metspalu, Andres; Nauck, Matthias; Peters, Annette; Rathmann, Wolfgang; Reinmaa, Eva; Rettig, Rainer; Roden, Michael; Schillert, Arne; Schramm, Katharina; Steil, Leif; Strauch, Konstantin; Teumer, Alexander; Völzke, Henry; Wallaschofski, Henri; Wild, Philipp S.; Ziegler, Andreas; Völker, Uwe; Prokisch, Holger; Zeller, Tanja (2015): Extensive alterations of the whole-blood transcriptome are associated with body mass index: results of an mRNA profiling study involving two large population-based cohorts. In: BMC Medical Genomics 8:65 [PDF, 1MB]

Bartel, Jörg; Krumsiek, Jan; Schramm, Katharina; Adamski, Jerzy; Gieger, Christian; Herder, Christian; Carstensen, Maren; Peters, Annette; Rathmann, Wolfgang; Roden, Michael; Strauch, Konstantin; Suhre, Karsten; Kastenmueller, Gabi; Prokisch, Holger; Theis, Fabian J. (2015): The Human Blood Metabolome-Transcriptome Interface.
In: PLOS Genetics 11(6), e1005274 [PDF, 5MB]

Flaquer, Antònia; Rospleszcz, Susanne; Reischl, Eva; Zeilinger, Sonja; Prokisch, Holger; Meitinger, Thomas; Meisinger, Christa; Peters, Annette; Waldenberger, Melanie; Grallert, Harald; Strauch, Konstantin (2015): Mitochondrial GWA Analysis of Lipid Profile Identifies Genetic Variants to Be Associated with HDL Cholesterol and Triglyceride Levels.
In: PLOS ONE 10(5), UNSP e0126294 [PDF, 363kB]

Haack, Tobias B.; Jackson, Christopher B.; Murayama, Kei; Kremer, Laura S.; Schaller, André; Kotzaeridou, Urania; Vries, Maaike C. de; Schottmann, Gudrun; Santra, Saikat; Büchner, Boriana; Wieland, Thomas; Graf, Elisabeth; Freisinger, Peter; Eggimann, Sandra; Ohtake, Akira; Okazaki, Yasushi; Kohda, Masakazu; Kishita, Yoshihito; Tokuzawa, Yoshimi; Sauer, Sascha; Memari, Yasin; Kolb-Kokocinski, Anja; Durbin, Richard; Hasselmann, Oswald; Cremer, Kirsten; Albrecht, Beate; Wieczorek, Dagmar; Engels, Hartmut; Hahn, Dagmar; Zink, Alexander M.; Alston, Charlotte L.; Taylor, Robert W.; Rodenburg, Richard J.; Trollmann, Regina; Sperl, Wolfgang; Strom, Tim M.; Hoffmann, Georg F.; Mayr, Johannes A.; Meitinger, Thomas; Bolognini, Ramona; Schuelke, Markus; Nuoffer, Jean-Marc; Kölker, Stefan; Prokisch, Holger; Klopstock, Thomas (2015): Deficiency of ECHS1 causes mitochondrial encephalopathy with cardiac involvement. In: Annals of Clinical and Translational Neurology, Vol. 2, No. 5: pp. 492-509

Westra, Harm-Jan; Arends, Danny; Esko, Tõnu; Peters, Marjolein J.; Schurmann, Claudia; Schramm, Katharina; Kettunen, Johannes; Yaghootkar, Hanieh; Fairfax, Benjamin P.; Andiappan, Anand Kumar; Li, Yang; Fu, Jingyuan; Karjalainen, Juha; Platteel, Mathieu; Visschedijk, Marijn; Weersma, Rinse K.; Kasela, Silva; Milani, Lili; Tserel, Liina; Peterson, Pärt; Reinmaa, Eva; Hofman, Albert; Uitterlinden, André G.; Rivadeneira, Fernando; Homuth, Georg; Petersmann, Astrid; Lorbeer, Roberto; Prokisch, Holger; Meitinger, Thomas; Herder, Christian; Roden, Michael; Grallert, Harald; Ripatti, Samuli; Perola, Markus; Wood, Andrew R.; Melzer, David; Ferrucci, Luigi; Singleton, Andrew B.; Hernandez, Dena G.; Knight, Julian C.; Melchiotti, Rossella; Lee, Bernett; Poidinger, Michael; Zolezzi, Francesca; Larbi, Anis; Wang, De Yun; Berg, Leonard H. van den; Veldink, Jan H.; Rotzschke, Olaf; Makino, Seiko; Salomaa, Veikko; Strauch, Konstantin; Völker, Uwe; Meurs, Joyce B. J. van; Metspalu, Andres; Wijmenga, Cisca; Jansen, Ritsert C.; Franke, Lude (2015): Cell Specific eQTL Analysis without Sorting Cells.
In: PLOS Genetics 11(5), UNSP e1005223 [PDF, 1MB]

Haghighi, Alireza; Haack, Tobias B.; Atiq, Mehnaz; Mottaghi, Hassan; Haghighi-Kakhki, Hamidreza; Bashir, Rani A.; Ahting, Uwe; Feichtinger, Rene G.; Mayr, Johannes A.; Rötig, Agnes; Lebre, Anne-Sophie; Klopstock, Thomas; Dworschak, Andrea; Pulido, Nathan; Saeed, Mahmood A.; Saleh-Gohari, Nasrollah; Holzerova, Eliska; Chinnery, Patrick F.; Taylor, Robert W.; Prokisch, Holger (2014): Sengers syndrome: six novel AGK mutations in seven new families and review of the phenotypic and mutational spectrum of 29 patients. In: Orphanet Journal of Rare Diseases 9:119 [PDF, 2MB]

Becker, Lore; Kling, Eva; Schiller, Evelyn; Zeh, Ramona; Schrewe, Anja; Hölter, Sabine M.; Mossbrugger, Ilona; Calzada-Wack, Julia; Strecker, Valentina; Wittig, Ilka; Dumitru, Iulia; Wenz, Tina; Bender, Andreas; Aichler, Michaela; Janik, Dirk; Neff, Frauke; Walch, Axel; Quintanilla-Fend, Leticia; Floss, Thomas; Bekeredjian, Raffi; Gailus-Durner, Valerie; Fuchs, Helmut; Wurst, Wolfgang; Meitinger, Thomas; Prokisch, Holger; Hrabé de Angelis, Martin; Klopstock, Thomas (2014): MTO1-Deficient Mouse Model Mirrors the Human Phenotype Showing Complex I Defect and Cardiomyopathy.
In: PLOS ONE 9(12), e114918 [PDF, 1MB]

Schramm, Katharina; Marzi, Carola; Schurmann, Claudia; Carstensen, Maren; Reinmaa, Eva; Biffar, Reiner; Eckstein, Gertrud; Gieger, Christian; Grabe, Hans-Jörgen; Homuth, Georg; Kastenmueller, Gabriele; Maegi, Reedik; Metspalu, Andres; Mihailov, Evelin; Peters, Annette; Petersmann, Astrid; Roden, Michael; Strauch, Konstantin; Suhre, Karsten; Teumer, Alexander; Voelker, Uwe; Voelzke, Henry; Wang-Sattler, Rui; Waldenberger, Melanie; Meitinger, Thomas; Illig, Thomas; Herder, Christian; Grallert, Harald; Prokisch, Holger (2014): Mapping the Genetic Architecture of Gene Regulation in Whole Blood.
In: PLOS ONE 9(4), e93844 [PDF, 1MB]

Hartig, Monika B.; Prokisch, Holger; Meitinger, Thomas; Klopstock, Thomas (1. August 2012): Pantothenate kinase-associated neurodegeneration. In: Current drug targets, Vol. 13, No. 9: pp. 1182-1189 [PDF, 853kB]

Haack, Tobias B.; Haberberger, Birgit; Frisch, Eva-Maria; Wieland, Thomas; Iuso, Arcangela; Gorza, Matteo; Strecker, Valentina; Graf, Elisabeth; Mayr, Johannes A.; Herberg, Ulrike; Hennermann, Julia B.; Klopstock, Thomas; Kuhn, Klaus A.; Ahting, Uwe; Sperl, Wolfgang; Wilichowski, Ekkehard; Hoffmann, Georg F.; Tesarova, Marketa; Hansikova, Hana; Zeman, Jiri; Plecko, Barbara; Zeviani, Massimo; Wittig, Ilka; Strom, Tim M.; Schuelke, Markus; Freisinger, Peter; Meitinger, Thomas; Prokisch, Holger (April 2012): Molecular diagnosis in mitochondrial complex I deficiency using exome sequencing. In: Journal of medical genetics, Vol. 49, No. 4: pp. 277-283 [PDF, 372kB]

Winkelmann, Juliane; Czamara, Darina; Schormair, Barbara; Knauf, Franziska; Schulte, Eva C.; Trenkwalder, Claudia; Dauvilliers, Yves; Polo, Olli; Hoegl, Birgit; Berger, Klaus; Fuhs, Andrea; Gross, Nadine; Stiasny-Kolster, Karin; Oertel, Wolfgang; Bachmann, Cornelius G.; Paulus, Walter; Xiong, Lan; Montplaisir, Jacques; Rouleau, Guy A.; Fietze, Ingo; Vavrova, Jana; Kemlink, David; Sonka, Karel; Nevsimalova, Sona; Lin, Siong-Chi; Wszolek, Zbigniew; Vilarino-Gueell, Carles; Farrer, Matthew J.; Gschliesser, Viola; Frauscher, Birgit; Falkenstetter, Tina; Poewe, Werner; Allen, Richard P.; Earley, Christopher J.; Ondo, William G.; Le, Wei-Dong; Spieler, Derek; Kaffe, Maria; Zimprich, Alexander; Kettunen, Johannes; Perola, Markus; Silander, Kaisa; Cournu-Rebeix, Isabelle; Francavilla, Marcella; Fontenille, Claire; Fontaine, Bertrand; Vodicka, Pavel; Prokisch, Holger; Lichtner, Peter; Peppard, Paul; Faraco, Juliette; Mignot, Emmanuel; Gieger, Christian; Illig, Thomas; Wichmann, Heinz-Erich; Mueller-Myhsok, Bertram; Meitinger, Thomas (July 2011): Genome-Wide Association Study Identifies Novel Restless Legs Syndrome Susceptibility Loci on 2p14 and 16q12.1.
In: PLOS Genetics 7(7), e1002171 [PDF, 683kB]

Nalls, Michael A.; Couper, David J.; Tanaka, Toshiko; van Rooij, Frank J. A.; Chen, Ming-Huei; Smith, Albert V.; Toniolo, Daniela; Zakai, Neil A.; Yang, Qiong; Greinacher, Andreas; Wood, Andrew R.; Garcia, Melissa; Gasparini, Paolo; Liu, Yongmei; Lumley, Thomas; Folsom, Aaron R.; Reiner, Alex P.; Gieger, Christian; Lagou, Vasiliki; Felix, Janine F.; Voelzke, Henry; Gouskova, Natalia A.; Biffi, Alessandro; Doering, Angela; Voelker, Uwe; Chong, Sean; Wiggins, Kerri L.; Rendon, Augusto; Dehghan, Abbas; Moore, Matt; Taylor, Kent; Wilson, James G.; Lettre, Guillaume; Hofman, Albert; Bis, Joshua C.; Pirastu, Nicola; Fox, Caroline S.; Meisinger, Christa; Sambrook, Jennifer; Arepalli, Sampath; Nauck, Matthias; Prokisch, Holger; Stephens, Jonathan; Glazer, Nicole L.; Cupples, L. Adrienne; Okada, Yukinori; Takahashi, Atsushi; Kamatani, Yoichiro; Matsuda, Koichi; Tsunoda, Tatsuhiko; Tanaka, Toshihiro; Kubo, Michiaki; Nakamura, Yusuke; Yamamoto, Kazuhiko; Kamatani, Naoyuki; Stumvoll, Michael; Toenjes, Anke; Prokopenko, Inga; Illig, Thomas; Patel, Kushang V.; Garner, Stephen F.; Kuhnel, Brigitte; Mangino, Massimo; Oostra, Ben A.; Thein, Swee Lay; Coresh, Josef; Wichmann, Heinz-Erich; Menzel, Stephan; Lin, JingPing; Pistis, Giorgio; Uitterlinden, Andre G.; Spector, Tim D.; Teumer, Alexander; Eiriksdottir, Gudny; Gudnason, Vilmundur; Bandinelli, Stefania; Frayling, Timothy M.; Chakravarti, Aravinda; van Duijn, Cornelia M.; Melzer, David; Ouwehand, Willem H.; Levy, Daniel; Boerwinkle, Eric; Singleton, Andrew B.; Hernandez, Dena G.; Longo, Dan L.; Soranzo, Nicole; Witteman, Jacqueline C. M.; Psaty, Bruce M.; Ferrucci, Luigi; Harris, Tamara B.; O'Donnell, Christopher J.; Ganesh, Santhi K. (June 2011): Multiple Loci Are Associated with White Blood Cell Phenotypes.
In: PLOS Genetics 7(6), e1002113 [PDF, 534kB]

Elstner, Matthias; Mueller, Sarina K.; Leidolt, Lars; Laub, Christoph; Krieg, Lena; Schlaudraff, Falk; Liss, Birgit; Morris, Chris; Turnbull, Douglass M.; Masliah, Eliezer; Prokisch, Holger; Klopstock, Thomas; Bender, Andreas (2011): Neuromelanin, neurotransmitter status and brainstem location determine the differential vulnerability of catecholaminergic neurons to mitochondrial DNA deletions. In: Molecular Brain 4:43 [PDF, 5MB]

Marzi, Carola; Albrecht, Eva; Hysi, Pirro G.; Lagou, Vasiliki; Waldenberger, Melanie; Toenjes, Anke; Prokopenko, Inga; Heim, Katharina; Blackburn, Hannah; Ried, Janina S.; Kleber, Marcus E.; Mangino, Massimo; Thorand, Barbara; Peters, Annette; Hammond, Christopher J.; Grallert, Harald; Boehm, Bernhard O.; Kovacs, Peter; Geistlinger, Ludwig; Prokisch, Holger; Winkelmann, Bernhard R.; Spector, Tim D.; Wichmann, Heinz-Erich; Stumvoll, Michael; Soranzo, Nicole; Maerz, Winfried; Koenig, Wolfgang; Illig, Thomas; Gieger, Christian (November 2010): Genome-Wide Association Study Identifies Two Novel Regions at 11p15.5-p13 and 1p31 with Major Impact on Acute-Phase Serum Amyloid A.
In: PLOS Genetics 6(11), e1001213 [PDF, 446kB]

Kolz, Melanie; Johnson, Toby; Sanna, Serena; Teumer, Alexander; Vitart, Veronique; Perola, Markus; Mangino, Massimo; Albrecht, Eva; Wallace, Chris; Farrall, Martin; Johansson, Asa; Nyholt, Dale R.; Aulchenko, Yurii; Beckmann, Jacques S.; Bergmann, Sven; Bochud, Murielle; Brown, Morris; Campbell, Harry; Connell, John; Dominiczak, Anna; Homuth, Georg; Lamina, Claudia; McCarthy, Mark I.; Meitinger, Thomas; Mooser, Vincent; Munroe, Patricia; Nauck, Matthias; Peden, John; Prokisch, Holger; Salo, Perttu; Salomaa, Veikko; Samani, Nilesh J.; Schlessinger, David; Uda, Manuela; Voelker, Uwe; Waeber, Gerard; Waterworth, Dawn; Wang-Sattler, Rui; Wright, Alan F.; Adamski, Jerzy; Whitfield, John B.; Gyllensten, Ulf; Wilson, James F.; Rudan, Igor; Pramstaller, Peter; Watkins, Hugh; Doering, Angela; Wichmann, Heinz-Erich; Spector, Tim D.; Peltonen, Leena; Voelzke, Henry; Nagaraja, Ramaiah; Vollenweider, Peter; Caulfield, Mark; Illig, Thomas; Gieger, Christian (June 2009): Meta-Analysis of 28,141 Individuals Identifies Common Variants within Five New Loci That Influence Uric Acid Concentrations.
In: PLOS Genetics 5(6), e1000504 [PDF, 503kB]

Weidinger, Stephan; Gieger, Christian; Rodriguez, Elke; Baurecht, Hansjoerg; Mempel, Martin; Klopp, Norman; Gohlke, Henning; Wagenpfeil, Stefan; Ollert, Markus; Ring, Johannes; Behrendt, Heidrun; Heinrich, Joachim; Novak, Natalija; Bieber, Thomas; Kraemer, Ursula; Berdel, Dietrich; Berg, Andrea von; Bauer, Carl Peter; Herbarth, Olf; Koletzko, Sibylle; Prokisch, Holger; Mehta, Divya; Meitinger, Thomas; Depner, Martin; Mutius, Erika von; Liang, Liming; Moffatt, Miriam; Cookson, William; Kabesch, Michael; Wichmann, Heinz-Erich; Illig, Thomas (August 2008): Genome-Wide Scan on Total Serum IgE Levels Identifies FCER1A as Novel Susceptibility Locus.
In: PLOS Genetics 4(8), e1000166 [PDF, 256kB]

This list was generated on Tue Sep 17 06:26:52 2019 CEST.