Genetic diagnosis of Mendelian disorders via RNA sequencing
Kremer, Laura S., Bader, Daniel M., Mertes, Christian, Kopajtich, Robert, Pichler, Garwin, Iuso, Arcangela, Haack, Tobias B., Graf, Elisabeth, Schwarzmayr, Thomas, Terrile, Caterina, Koňaříková, Eliška, Repp, Birgit, Kastenmüller, Gabi, Adamski, Jerzy, Lichtner, Peter, Leonhardt, Christoph, Funalot, Benoit, Donati, Alice, Tiranti, Valeria, Lombes, Anne, Jardel, Claude, Gläser, Dieter, Taylor, Robert W., Ghezzi, Daniele, Mayr, Johannes A., Rötig, Agnes, Freisinger, Peter, Distelmaier, Felix, Strom, Tim M., Meitinger, Thomas, Gagneur, Julien, Prokisch, Holger
Published in Nature communications (12.06.2017)
Published in Nature communications (12.06.2017)
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Journal Article
Choline‐related‐inherited metabolic diseases—A mini review
Wortmann, Saskia B., Mayr, Johannes A.
Published in Journal of inherited metabolic disease (01.03.2019)
Published in Journal of inherited metabolic disease (01.03.2019)
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Journal Article
Serine Catabolism Feeds NADH when Respiration Is Impaired
Yang, Lifeng, Garcia Canaveras, Juan Carlos, Chen, Zihong, Wang, Lin, Liang, Lingfan, Jang, Cholsoon, Mayr, Johannes A., Zhang, Zhaoyue, Ghergurovich, Jonathan M., Zhan, Le, Joshi, Shilpy, Hu, Zhixian, McReynolds, Melanie R., Su, Xiaoyang, White, Eileen, Morscher, Raphael J., Rabinowitz, Joshua D.
Published in Cell metabolism (07.04.2020)
Published in Cell metabolism (07.04.2020)
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Journal Article
Lipoic acid biosynthesis defects
Mayr, Johannes A., Feichtinger, René G., Tort, Frederic, Ribes, Antonia, Sperl, Wolfgang
Published in Journal of inherited metabolic disease (01.07.2014)
Published in Journal of inherited metabolic disease (01.07.2014)
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Journal Article
Conference Proceeding
Deficient methylation and formylation of mt-tRNAMet wobble cytosine in a patient carrying mutations in NSUN3
Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F., Powell, Christopher A., Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F., Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A., Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Published in Nature communications (30.06.2016)
Published in Nature communications (30.06.2016)
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Journal Article
NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood
Kremer, Laura S., Danhauser, Katharina, Herebian, Diran, Petkovic Ramadža, Danijela, Piekutowska-Abramczuk, Dorota, Seibt, Annette, Müller-Felber, Wolfgang, Haack, Tobias B., Płoski, Rafał, 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
Published in American journal of human genetics (06.10.2016)
Published in American journal of human genetics (06.10.2016)
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Journal Article
Treating neutropenia and neutrophil dysfunction in glycogen storage disease type Ib with an SGLT2 inhibitor
Wortmann, Saskia B., Van Hove, Johan L.K., Derks, Terry G.J., Chevalier, Nathalie, Knight, Vijaya, Koller, Andreas, Oussoren, Esmee, Mayr, Johannes A., van Spronsen, Francjan J., Lagler, Florian B., Gaughan, Sommer, Van Schaftingen, Emile, Veiga-da-Cunha, Maria
Published in Blood (27.08.2020)
Published in Blood (27.08.2020)
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Journal Article
Lack of the Mitochondrial Protein Acylglycerol Kinase Causes Sengers Syndrome
Mayr, Johannes A., Haack, Tobias B., Graf, Elisabeth, Zimmermann, Franz A., Wieland, Thomas, Haberberger, Birgit, Superti-Furga, Andrea, Kirschner, Janbernd, Steinmann, Beat, Baumgartner, Matthias R., Moroni, Isabella, Lamantea, Eleonora, Zeviani, Massimo, Rodenburg, Richard J., Smeitink, Jan, Strom, Tim M., Meitinger, Thomas, Sperl, Wolfgang, Prokisch, Holger
Published in American journal of human genetics (10.02.2012)
Published in American journal of human genetics (10.02.2012)
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Journal Article
Deficient methylation and formylation of mt-tRNA(Met) wobble cytosine in a patient carrying mutations in NSUN3
Van Haute, Lindsey, Dietmann, Sabine, Kremer, Laura, Hussain, Shobbir, Pearce, Sarah F, Powell, Christopher A, Rorbach, Joanna, Lantaff, Rebecca, Blanco, Sandra, Sauer, Sascha, Kotzaeridou, Urania, Hoffmann, Georg F, Memari, Yasin, Kolb-Kokocinski, Anja, Durbin, Richard, Mayr, Johannes A, Frye, Michaela, Prokisch, Holger, Minczuk, Michal
Published in Nature communications (30.06.2016)
Published in Nature communications (30.06.2016)
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Journal Article
Disturbed mitochondrial and peroxisomal dynamics due to loss of MFF causes Leigh-like encephalopathy, optic atrophy and peripheral neuropathy
Koch, Johannes, Feichtinger, René G, Freisinger, Peter, Pies, Mechthild, Schrödl, Falk, Iuso, Arcangela, Sperl, Wolfgang, Mayr, Johannes A, Prokisch, Holger, Haack, Tobias B
Published in Journal of medical genetics (01.04.2016)
Published in Journal of medical genetics (01.04.2016)
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Journal Article
Lipoic Acid Synthetase Deficiency Causes Neonatal-Onset Epilepsy, Defective Mitochondrial Energy Metabolism, and Glycine Elevation
Mayr, Johannes A., Zimmermann, Franz A., Fauth, Christine, Bergheim, Christa, Meierhofer, David, Radmayr, Doris, Zschocke, Johannes, Koch, Johannes, Sperl, Wolfgang
Published in American journal of human genetics (09.12.2011)
Published in American journal of human genetics (09.12.2011)
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Journal Article
Mitochondrial DNA mutation analysis from exome sequencing—A more holistic approach in diagnostics of suspected mitochondrial disease
Wagner, Matias, Berutti, Riccardo, Lorenz‐Depiereux, Bettina, Graf, Elisabeth, Eckstein, Gertrud, Mayr, Johannes A., Meitinger, Thomas, Ahting, Uwe, Prokisch, Holger, Strom, Tim M., Wortmann, Saskia B.
Published in Journal of inherited metabolic disease (01.09.2019)
Published in Journal of inherited metabolic disease (01.09.2019)
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Journal Article
Impaired complex I repair causes recessive Leber's hereditary optic neuropathy
Stenton, Sarah L, Sheremet, Natalia L, Catarino, Claudia B, Andreeva, Natalia A, Assouline, Zahra, Barboni, Piero, Barel, Ortal, Berutti, Riccardo, Bychkov, Igor, Caporali, Leonardo, Capristo, Mariantonietta, Carbonelli, Michele, Cascavilla, Maria L, Charbel Issa, Peter, Freisinger, Peter, Gerber, Sylvie, Ghezzi, Daniele, Graf, Elisabeth, Heidler, Juliana, Hempel, Maja, Heon, Elise, Itkis, Yulya S, Javasky, Elisheva, Kaplan, Josseline, Kopajtich, Robert, Kornblum, Cornelia, Kovacs-Nagy, Reka, Krylova, Tatiana D, Kunz, Wolfram S, La Morgia, Chiara, Lamperti, Costanza, Ludwig, Christina, Malacarne, Pedro F, Maresca, Alessandra, Mayr, Johannes A, Meisterknecht, Jana, Nevinitsyna, Tatiana A, Palombo, Flavia, Pode-Shakked, Ben, Shmelkova, Maria S, Strom, Tim M, Tagliavini, Francesca, Tzadok, Michal, van der Ven, Amelie T, Vignal-Clermont, Catherine, Wagner, Matias, Zakharova, Ekaterina Y, Zhorzholadze, Nino V, Rozet, Jean-Michel, Carelli, Valerio, Tsygankova, Polina G, Klopstock, Thomas, Wittig, Ilka, Prokisch, Holger
Published in The Journal of clinical investigation (15.03.2021)
Published in The Journal of clinical investigation (15.03.2021)
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Journal Article
Treatable mitochondrial diseases: cofactor metabolism and beyond
Distelmaier, Felix, Haack, Tobias B, Wortmann, Saskia B, Mayr, Johannes A, Prokisch, Holger
Published in Brain (London, England : 1878) (01.02.2017)
Published in Brain (London, England : 1878) (01.02.2017)
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Journal Article
COQ4 mutations cause a broad spectrum of mitochondrial disorders associated with CoQ10 deficiency
Brea-Calvo, Gloria, Haack, Tobias B., Karall, Daniela, Ohtake, Akira, Invernizzi, Federica, Carrozzo, Rosalba, Kremer, Laura, Dusi, Sabrina, Fauth, Christine, Scholl-Bürgi, Sabine, Graf, Elisabeth, Ahting, Uwe, Resta, Nicoletta, Laforgia, Nicola, Verrigni, Daniela, Okazaki, Yasushi, Kohda, Masakazu, Martinelli, Diego, Freisinger, Peter, Strom, Tim M., Meitinger, Thomas, Lamperti, Costanza, Lacson, Atilano, Navas, Placido, Mayr, Johannes A., Bertini, Enrico, Murayama, Kei, Zeviani, Massimo, Prokisch, Holger, Ghezzi, Daniele
Published in American journal of human genetics (05.02.2015)
Published in American journal of human genetics (05.02.2015)
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Journal Article
Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy
Kopajtich, Robert, Nicholls, Thomas J., Rorbach, Joanna, Metodiev, Metodi D., Freisinger, Peter, Mandel, Hanna, Vanlander, Arnaud, Ghezzi, Daniele, Carrozzo, Rosalba, Taylor, Robert W., Marquard, Klaus, Murayama, Kei, Wieland, Thomas, Schwarzmayr, Thomas, Mayr, Johannes A., Pearce, Sarah F., Powell, Christopher A., Saada, Ann, Ohtake, Akira, Invernizzi, Federica, Lamantea, Eleonora, Sommerville, Ewen W., Pyle, Angela, Chinnery, Patrick F., Crushell, Ellen, Okazaki, Yasushi, Kohda, Masakazu, Kishita, Yoshihito, Tokuzawa, Yoshimi, Assouline, Zahra, Rio, Marlène, Feillet, François, Mousson de Camaret, Bénédict, Chretien, Dominique, Munnich, Arnold, Menten, Björn, Sante, Tom, Smet, Joél, Régal, Luc, Lorber, Abraham, Khoury, Asaad, Zeviani, Massimo, Strom, Tim M., Meitinger, Thomas, Bertini, Enrico S., Van Coster, Rudy, Klopstock, Thomas, Rötig, Agnès, Haack, Tobias B., Minczuk, Michal, Prokisch, Holger
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Journal Article
Sudden Cardiac Death Due to Deficiency of the Mitochondrial Inorganic Pyrophosphatase PPA2
Kennedy, Hannah, Haack, Tobias B., Hartill, Verity, Mataković, Lavinija, Baumgartner, E. Regula, Potter, Howard, Mackay, Richard, Alston, Charlotte L., O’Sullivan, Siobhan, McFarland, Robert, Connolly, Grainne, Gannon, Caroline, King, Richard, Mead, Scott, Crozier, Ian, Chan, Wandy, Florkowski, Chris M., Sage, Martin, Höfken, Thomas, Alhaddad, Bader, Kremer, Laura S., Kopajtich, Robert, Feichtinger, René G., Sperl, Wolfgang, Rodenburg, Richard J., Minet, Jean Claude, Dobbie, Angus, Strom, Tim M., Meitinger, Thomas, George, Peter M., Johnson, Colin A., Taylor, Robert W., Prokisch, Holger, Doudney, Kit, Mayr, Johannes A.
Published in American journal of human genetics (01.09.2016)
Published in American journal of human genetics (01.09.2016)
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Journal Article