Single-Cell Transcriptomics and Fate Mapping of Ependymal Cells Reveals an Absence of Neural Stem Cell Function
Shah, Prajay T., Stratton, Jo A., Stykel, Morgan Gail, Abbasi, Sepideh, Sharma, Sandeep, Mayr, Kyle A., Koblinger, Kathrin, Whelan, Patrick J., Biernaskie, Jeff
Published in Cell (03.05.2018)
Published in Cell (03.05.2018)
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Journal Article
Management of Hereditary Breast Cancer: American Society of Clinical Oncology, American Society for Radiation Oncology, and Society of Surgical Oncology Guideline
Tung, Nadine M, Boughey, Judy C, Pierce, Lori J, Robson, Mark E, Bedrosian, Isabelle, Dietz, Jill R, Dragun, Anthony, Gelpi, Judith Balmana, Hofstatter, Erin W, Isaacs, Claudine J, Jatoi, Ismail, Kennedy, Elaine, Litton, Jennifer K, Mayr, Nina A, Qamar, Rubina D, Trombetta, Mark G, Harvey, Brittany E, Somerfield, Mark R, Zakalik, Dana
Published in Journal of clinical oncology (20.06.2020)
Published in Journal of clinical oncology (20.06.2020)
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Journal Article
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
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
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
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
Lean 4.0 - A conceptual conjunction of lean management and Industry 4.0
Mayr, A., Weigelt, M., Kühl, A., Grimm, S., Erll, A., Potzel, M., Franke, J.
Published in Procedia CIRP (2018)
Published in Procedia CIRP (2018)
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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
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
Protein kinase A controls the hexosamine pathway by tuning the feedback inhibition of GFAT-1
Ruegenberg, Sabine, Mayr, Felix A M C, Atanassov, Ilian, Baumann, Ulrich, Denzel, Martin S
Published in Nature communications (12.04.2021)
Published in Nature communications (12.04.2021)
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Journal Article
Tumor radiomic heterogeneity: Multiparametric functional imaging to characterize variability and predict response following cervical cancer radiation therapy
Bowen, Stephen R., Yuh, William T.C., Hippe, Daniel S., Wu, Wei, Partridge, Savannah C., Elias, Saba, Jia, Guang, Huang, Zhibin, Sandison, George A., Nelson, Dennis, Knopp, Michael V., Lo, Simon S., Kinahan, Paul E., Mayr, Nina A.
Published in Journal of magnetic resonance imaging (01.05.2018)
Published in Journal of magnetic resonance imaging (01.05.2018)
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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
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
Parallel descending dopaminergic connectivity of A13 cells to the brainstem locomotor centers
Sharma, Sandeep, Kim, Linda H, Mayr, Kyle A, Elliott, David A, Whelan, Patrick J
Published in Scientific reports (22.05.2018)
Published in Scientific reports (22.05.2018)
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Journal Article
The mitochondrial phosphate carrier: Role in oxidative metabolism, calcium handling and mitochondrial disease
Seifert, Erin L., Ligeti, Erzsébet, Mayr, Johannes A., Sondheimer, Neal, Hajnóczky, György
Published in Biochemical and biophysical research communications (21.08.2015)
Published in Biochemical and biophysical research communications (21.08.2015)
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Journal Article
Comparison and Consensus Guidelines for Delineation of Clinical Target Volume for CT- and MR-Based Brachytherapy in Locally Advanced Cervical Cancer
Viswanathan, Akila N., MD, MPH, Erickson, Beth, MD, Gaffney, David K., MD, PhD, Beriwal, Sushil, MD, Bhatia, Sudershan K., MD, PhD, Lee Burnett, Omer, MD, D'Souza, David P., MD, Patil, Nikhilesh, MD, Haddock, Michael G., MD, Jhingran, Anuja, MD, Jones, Ellen L., MD, PhD, Kunos, Charles A., MD, PhD, Lee, Larissa J., MD, Lin, Lilie L., MD, Mayr, Nina A., MD, PhD, Petersen, Ivy, MD, Petric, Primoz, MD, Portelance, Lorraine, MD, Small, William, MD, Strauss, Jonathan B., MD, Townamchai, Kanokpis, MD, Wolfson, Aaron H., MD, Yashar, Catheryn M., MD, Bosch, Walter, DSc
Published in International journal of radiation oncology, biology, physics (01.10.2014)
Published in International journal of radiation oncology, biology, physics (01.10.2014)
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Journal Article
Bi-allelic Mutations in the Mitochondrial Ribosomal Protein MRPS2 Cause Sensorineural Hearing Loss, Hypoglycemia, and Multiple OXPHOS Complex Deficiencies
Gardeitchik, Thatjana, Mohamed, Miski, Ruzzenente, Benedetta, Karall, Daniela, Guerrero-Castillo, Sergio, Dalloyaux, Daisy, van den Brand, Mariël, van Kraaij, Sanne, van Asbeck, Ellyze, Assouline, Zahra, Rio, Marlene, de Lonlay, Pascale, Scholl-Buergi, Sabine, Wolthuis, David F.G.J., Hoischen, Alexander, Rodenburg, Richard J., Sperl, Wolfgang, Urban, Zsolt, Brandt, Ulrich, Mayr, Johannes A., Wong, Sunnie, de Brouwer, Arjan P.M., Nijtmans, Leo, Munnich, Arnold, Rötig, Agnès, Wevers, Ron A., Metodiev, Metodi D., Morava, Eva
Published in American journal of human genetics (05.04.2018)
Published in American journal of human genetics (05.04.2018)
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Journal Article
Oxidation of Various Kraft Lignins with a Bacterial Laccase Enzyme
Mayr, Sebastian A, Subagia, Raditya, Weiss, Renate, Schwaiger, Nikolaus, Weber, Hedda K, Leitner, Johannes, Ribitsch, Doris, Nyanhongo, Gibson S, Guebitz, Georg M
Published in International journal of molecular sciences (06.12.2021)
Published in International journal of molecular sciences (06.12.2021)
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Journal Article