Not logged in Ontology-guided clustering enables proteomic analysis of rare pediatric disorders Itang, Ericka C. M.; Albrecht, Vincent; Schebesta, Alicia-Sophie; Thielert, Marvin; Lanz, Anna-Lisa; Danhauser, Katharina; Jin, Jessica; Prell, Tobias; Strobel, Sophie; Klein, Christoph; Mann, Matthias; Pangratz-Fuehrer, Susanne; Mueller-Reif, Johannes Share Save
Democratizing knowledge representation with BioCypher Lobentanzer, Sebastian; Aloy, Patrick; Baumbach, Jan; Bohar, Balazs; Carey, Vincent J.; Charoentong, Pornpimol; Danhauser, Katharina; Dogan, Tunca; Dreo, Johann; Dunham, Ian; Farr, Elias; Fernandez-Torras, Adria; Gyori, Benjamin M.; Hartung, Michael; Hoyt, Charles Tapley; Klein, Christoph; Korcsmaros, Tamas; Maier, Andreas; Mann, Matthias; Ochoa, David; Pareja-Lorente, Elena; Popp, Ferdinand; Preusse, Martin; Probul, Niklas; Schwikowski, Benno; Sen, Buenyamin; Strauss, Maximilian T.; Turei, Denes; Ulusoy, Erva; Waltemath, Dagmar; Wodke, Judith A. H.; Saez-Rodriguez, Julio Share Save
Human COQ4 deficiency: delineating the clinical, metabolic and neuroimaging phenotypes Laugwitz, Lucia; Seibt, Annette; Herebian, Diran; Peralta, Susana; Kienzle, Imke; Buchert, Rebecca; Falb, Ruth; Gauck, Darja; Muller, Amelie; Grimmel, Mona; Beck-Woedel, Stefanie; Kern, Jan; Daliri, Karim; Katibeh, Pegah; Danhauser, Katharina; Leiz, Steffen; Alesi, Viola; Baertling, Fabian; Vasco, Gessica; Steinfeld, Robert; Wagner, Matias; Caglayan, Ahmet Okay; Gumus, Hakan; Burmeister, Margit; Mayatepek, Ertan; Martinelli, Diego; Tamhankar, Parag Mohan; Tamhankar, Vasundhara; Joset, Pascal; Steindl, Katharina; Rauch, Anita; Bonnen, Penelope E.; Froukh, Tawfiq; Groeschel, Samuel; Krageloh-Mann, Ingeborg; Haack, Tobias B.; Distelmaier, Felix Share Save
Characterization of PARP6 Function in Knockout Mice and Patients with Developmental Delay Vermehren-Schmaedick, Anke; Huang, Jeffrey Y.; Levinson, Madison; Pomaville, Matthew B.; Reed, Sarah; Bellus, Gary A.; Gilbert, Fred; Keren, Boris; Heron, Delphine; Haye, Damien; Janello, Christine; Makowski, Christine; Danhauser, Katharina; Fedorov, Lev M.; Haack, Tobias B.; Wright, Kevin M.; Cohen, Michael S. Share Save
Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy 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. Share Save
Bi-allelic mutations in TRAPPC2L result in a neurodevelopmental disorder and have an impact on RAB11 in fibroblasts Milev, Miroslav P.; Graziano, Claudio; Karall, Daniela; Kuper, Willemijn F. E.; Al-Deri, Noraldin; Cordelli, Duccio Maria; Haack, Tobias B.; Danhauser, Katharina; Iuso, Arcangela; Palombo, Flavia; Pippucci, Tommaso; Prokisch, Holger; Saint-Dic, Djenann; Seri, Marco; Stanga, Daniela; Cenacchi, Giovanna; van Gassen, Koen L. I.; Zschocke, Johannes; Fauth, Christine; Mayr, Johannes A.; Sacher, Michael; van Hasselt, Peter M. Share Save
Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells Melcher, Marlen; Danhauser, Katharina; Seibt, Annette; Degistirici, Oezer; Baertling, Fabian; Kondadi, Arun Kumar; Reichert, Andreas S.; Koopman, Werner J. H.; Willems, Peter H. G. M.; Rodenburg, Richard J.; Mayatepek, Ertan; Meisel, Roland; Distelmaier, Felix Share Save
Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities Herebian, Diran; Alhaddad, Bader; Seibt, Annette; Schwarzmayr, Thomas; Danhauser, Katharina; Klee, Dirk; Harmsen, Stefani; Meitinger, Thomas; Strom, Tim M.; Schulz, Ansgar; Mayatepek, Ertan; Haack, Tobias B.; Distelmaier, Felix Share Save
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; Ramadza, Danijela Petkovic; Piekutowska-Abramczuk, Dorota; Seibt, Annette; Mueller-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 Share Save
EARS2 mutations cause fatal neonatal lactic acidosis, recurrent hypoglycemia and agenesis of corpus callosum Danhauser, Katharina; Haack, Tobias B.; Alhaddad, Bader; Melcher, Marlen; Seibt, Annette; Strom, Tim M.; Meitinger, Thomas; Klee, Dirk; Mayatepek, Ertan; Prokisch, Holger; Distelmaier, Felix Share Save
Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration Holzerova, Eliska; Danhauser, Katharina; Haack, Tobias B.; Kremer, Laura S.; Melcher, Marlen; Ingold, Irina; Kobayashi, Sho; Terrile, Caterina; Wolf, Petra; Schaper, Joerg; Mayatepek, Ertan; Baertling, Fabian; Angeli, Jose Pedro Friedmann; Conrad, Marcus; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger; Distelmaier, Felix Share Save
Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 Danhauser, Katharina; Herebian, Diran; Haack, Tobias B.; Rodenburg, Richard J.; Strom, Tim M.; Meitinger, Thomas; Klee, Dirk; Mayatepek, Ertan; Prokisch, Holger; Distelmaier, Felix Share Save
Phenotypic spectrum of eleven patients and five novel MTFMT mutations identified by exome sequencing and candidate gene screening Haack, Tobias B.; Gorza, Matteo; Danhauser, Katharina; Mayr, Johannes A.; Haberberger, Birgit; Wieland, Thomas; Kremer, Laura; Strecker, Valentina; Graf, Elisabeth; Memari, Yasin; Ahting, Uwe; Kopajtich, Robert; Wortmann, Saskia B.; Rodenburg, Richard J.; Kotzaeridou, Urania; Hoffmann, Georg F.; Sperl, Wolfgang; Wittig, Ilka; Wilichowski, Ekkehard; Schottmann, Gudrun; Schuelke, Markus; Plecko, Barbara; Stephani, Ulrich; Strom, Tim M.; Meitinger, Thomas; Prokisch, Holger; Freisinger, Peter Share Save
ELAC2 Mutations Cause a Mitochondrial RNA Processing Defect Associated with Hypertrophic Cardiomyopathy Haack, Tobias B.; Kopajtich, Robert; Freisinger, Peter; Wieland, Thomas; Rorbach, Joanna; Nicholls, Thomas J.; Baruffini, Enrico; Walther, Anett; Danhauser, Katharina; Zimmermann, Franz A.; Husain, Ralf A.; Schum, Jessica; Mundy, Helen; Ferrero, Ileana; Strom, Tim M.; Meitinger, Thomas; Taylor, Robert W.; Minczuk, Michal; Mayr, Johannes A.; Prokisch, Holger Share Save
Loss-of-function mutations in MGME1 impair mtDNA replication and cause multisystemic mitochondrial disease Kornblum, Cornelia; Nicholls, Thomas J.; Haack, Tobias B.; Schoeler, Susanne; Peeva, Viktoriya; Danhauser, Katharina; Hallmann, Kerstin; Zsurka, Gabor; Rorbach, Joanna; Iuso, Arcangela; Wieland, Thomas; Sciacco, Monica; Ronchi, Dario; Comi, Giacomo P.; Moggio, Maurizio; Quinzii, Catarina M.; DiMauro, Salvatore; Calvo, Sarah E.; Mootha, Vamsi K.; Klopstock, Thomas; Strom, Tim M.; Meitinger, Thomas; Minczuk, Michal; Kunz, Wolfram S.; Prokisch, Holger Share Save
DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria Danhauser, Katharina; Sauer, Sven W.; Haack, Tobias B.; Wieland, Thomas; Staufner, Christian; Graf, Elisabeth; Zschocke, Johannes; Strom, Tim M.; Traub, Thorsten; Okun, Juergen G.; Meitinger, Thomas; Hoffmann, Georg F.; Prokisch, Holger; Koelker, Stefan Share Save
Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9 Haack, Tobias B.; Madignier, Florence; Herzer, Martina; Lamantea, Eleonora; Danhauser, Katharina; Invernizzi, Federica; Koch, Johannes; Freitag, Martin; Drost, Rene; Hillier, Ingo; Haberberger, Birgit; Mayr, Johannes A.; Ahting, Uwe; Tiranti, Valeria; Roetig, Agnes; Iuso, Arcangela; Horvath, Rita; Tesarova, Marketa; Baric, Ivo; Uziel, Graziella; Rolinski, Boris; Sperl, Wolfgang; Meitinger, Thomas; Zeviani, Massimo; Freisinger, Peter; Prokisch, Holger Share Save
Defective NDUFA9 as a novel cause of neonatally fatal complex I disease van den Bosch, B. J. C.; Gerards, M.; Sluiter, W.; Stegmann, A. P. A.; Jongen, E. L. C.; Hellebrekers, D. M. E. I.; Oegema, R.; Lambrichs, E. H.; Prokisch, H.; Danhauser, K.; Schoonderwoerd, K.; de Coo, I. F. M.; Smeets, H. J. M. Share Save
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Riboflavin-responsive oxidative phosphorylation complex I deficiency caused by defective ACAD9: new function for an old gene Gerards, Mike; van den Bosch, Bianca J. C.; Danhauser, Katharina; Serre, Valerie; van Weeghel, Michel; Wanders, Ronald J. A.; Nicolaes, Gerry A. F.; Sluiter, Wim; Schoonderwoerd, Kees; Scholte, Hans R.; Prokisch, Holger; Roetig, Agnes; de Coo, Irenaeus F. M.; Smeets, Hubert J. M. Share Save
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