Not logged in Multi-omics-based phenotyping of AFG3L2-mutant lymphoblasts determines key factors of a pathophysiological interplay between mitochondrial vulnerability and neurodegeneration in spastic ataxia type 5 Oeztuerk, Menekse; Herebian, Diran; Dipali, Kale; Hentschel, Andreas; Rademacher, Nina; Kraft, Florian; Horvath, Rita; Distelmaier, Felix; Meuth, Sven G.; Ruck, Tobias; Schara-Schmidt, Ulrike; Roos, Andreas Share Save
Epg5 links proteotoxic stress due to defective autophagic clearance and epileptogenesis in Drosophila and Vici syndrome patients Deneubourg, Celine; Salimi Dafsari, Hormos; Lowe, Simon; Martinez-Cotrina, Aitana; Mazaud, David; Park, Seo Hyun; Vergani, Virginia; Almacellas Barbanoj, Amanda; Maroofian, Reza; Averdunk, Luisa; Ghayoor-Karimiani, Ehsan; Jayawant, Sandeep; Mignot, Cyril; Keren, Boris; Peters, Renate; Kamath, Arveen; Mattas, Lauren; Verma, Sumit; Silwal, Arpana; Distelmaier, Felix; Houlden, Henry; Lignani, Gabriele; Antebi, Adam; Jepson, James; Jungbluth, Heinz; Fanto, Manolis Share Save
ZSCAN10 deficiency causes a neurodevelopmental disorder with characteristic oto-facial malformations Laugwitz, Lucia; Cheng, Fubo; Collins, Stephan C.; Hustinx, Alexander; Navarro, Nicolas; Welsch, Simon; Cox, Helen; Hsieh, Tzung-Chien; Vijayananth, Aswinkumar; Buchert, Rebecca; Bender, Benjamin; Efthymiou, Stephanie; Murphy, David; Zafar, Faisal; Rana, Nuzhat; Grasshoff, Ute; Falb, Ruth J.; Grimmel, Mona; Seibt, Annette; Zheng, Wenxu; Ghaedi, Hamid; Thirion, Marie; Couette, Sebastien; Azizimalamiri, Reza; Sadeghian, Saeid; Galehdari, Hamid; Zamani, Mina; Zeighami, Jawaher; Sedaghat, Alireza; Ramshe, Samira Molaei; Zare, Ali; Alipoor, Behnam; Klee, Dirk; Sturm, Marc; Ossowski, Stephan; Houlden, Henry; Riess, Olaf; Wieczorek, Dagmar; Gavin, Ryan; Maroofian, Reza; Krawitz, Peter; Yalcin, Binnaz; Distelmaier, Felix; Haack, Tobias B. Share Save
Genotypic and phenotypic spectrum of infantile liver failure due to pathogenic TRMU variants (vol 25, 100314, 2023) Vogel, Georg F.; Mozer-Glassberg, Yael; Landau, Yuval E.; Schlieben, Lea D.; Prokisch, Holger; Feichtinger, Rene G.; Mayr, Johannes A.; Brennenstuhl, Heiko; Schroter, Julian; Pechlaner, Agnes; Alkuraya, Fowzan S.; Baker, Joshua J.; Barcia, Giulia; Baric, Ivo; Braverman, Nancy; Burnyte, Birute; Christodoulou, John; Ciara, Elzbieta; Coman, David; Das, Anibh M.; Darin, Niklas; Della Marina, Adela; Distelmaier, Felix; Eklund, Erik A.; Ersoy, Melike; Fang, Weiyan; Gaignard, Pauline; Ganetzky, Rebecca D.; Gonzales, Emmanuel; Howard, Caoimhe; Hughes, Joanne; Konstantopoulou, Vassiliki; Kose, Melis; Kerr, Marina; Khan, Aneal; Lenz, Dominic; McFarland, Robert; Margolis, Merav Gil; Morrison, Kevin; Mueller, Thomas; Murayama, Kei; Nicastro, Emanuele; Pennisi, Alessandra; Peters, Heidi; Piekutowska-Abramczuk, Dorota; Rotig, Agnes; Santer, Rene; Scaglia, Fernando; Schiff, Manuel; Shagrani, Mohmmad; Sharrard, Mark; Soler-Alfonso, Claudia; Staufner, Christian; Storey, Imogen; Stormon, Michael; Taylor, Robert W.; Thorburn, David R.; Teles, Elisa Leao; Wang, Jian-She; Weghuber, Daniel; Wortmannd, Saskia Share Save
De novo DHDDS variants cause a neurodevelopmental and neurodegenerative disorder with myoclonus Galosi, Serena; Edani, Ban H.; Martinelli, Simone; Hansikova, Hana; Eklund, Erik A.; Caputi, Caterina; Masuelli, Laura; Corsten-Janssen, Nicole; Srour, Myriam; Oegema, Renske; Bosch, Danielle G. M.; Ellis, Colin A.; Amlie-Wolf, Louise; Accogli, Andrea; Atallah, Isis; Averdunk, Luisa; Baranano, Kristin W.; Bei, Roberto; Bagnasco, Irene; Brusco, Alfredo; Demarest, Scott; Alaix, Anne-Sophie; Di Bonaventura, Carlo; Distelmaier, Felix; Elmslie, Frances; Gan-Or, Ziv; Good, Jean-Marc; Gripp, Karen; Kamsteeg, Erik-Jan; Macnamara, Ellen; Marcelis, Carlo; Mercier, Noelle; Peeden, Joseph; Pizzi, Simone; Pannone, Luca; Shinawi, Marwan; Toro, Camilo; Verbeek, Nienke E.; Venkateswaran, Sunita; Wheeler, Patricia G.; Zdrazilova, Lucie; Zhang, Rong; Zorzi, Giovanna; Guerrini, Renzo; Sessa, William C.; Lefeber, Dirk; Tartaglia, Marco; Hamdan, Fadi F.; Grabinska, Kariona A.; Leuzzi, Vincenzo Share Save
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Biallelic DMXL2 mutations impair autophagy and cause Ohtahara syndrome with progressive course Esposito, Alessandro; Falace, Antonio; Wagner, Matias; Gal, Moran; Mei, Davide; Conti, Valerio; Pisano, Tiziana; Aprile, Davide; Cerullo, Maria Sabina; De Fusco, Antonio; Giovedi, Silvia; Seibt, Annette; Magen, Daniella; Polster, Tilman; Eran, Ayelet; Stenton, Sarah L.; Fiorillo, Chiara; Ravid, Sarit; Mayatepek, Ertan; Hafner, Hava; Wortmann, Saskia; Levanon, Erez Y.; Marini, Carla; Mandel, Hanna; Benfenati, Fabio; Distelmaier, Felix; Fassio, Anna; Guerrini, Renzo Share Save
Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish Siekierska, Aleksandra; Stamberger, Hannah; Deconinck, Tine; Oprescu, Stephanie N.; Partoens, Michele; Zhang, Yifan; Sourbron, Jo; Adriaenssens, Elias; Mullen, Patrick; Wiencek, Patrick; Hardies, Katia; Lee, Jeong-Soo; Giong, Hoi-Khoanh; Distelmaier, Felix; Elpeleg, Orly; Helbig, Katherine L.; Hersh, Joseph; Isikay, Sedat; Jordan, Elizabeth; Karaca, Ender; Kecskes, Angela; Lupski, James R.; Kovacs-Nagy, Reka; May, Patrick; Narayanan, Vinodh; Pendziwiat, Manuela; Ramsey, Keri; Rangasamy, Sampathkumar; Shinde, Deepali N.; Spiegel, Ronen; Timmerman, Vincent; von Spiczak, Sarah; Helbig, Ingo; Balak, Chris; Belnap, Newell; Claasen, Ana; Courtright, Amanda; de Both, Matt; Huentelman, Matthew J.; Naymik, Marcus; Richholt, Ryan; Siniard, Ashley L.; Szelinger, Szabolcs; Craig, David W.; Schrauwen, Isabelle; Afawi, Zaid; Balling, Rudi; Baulac, Stephanie; Barisic, Nina; Caglayan, Hande S.; Craiu, Dana; Guerrero-Lopez, Rosa; Guerrini, Renzo; Hjalgrim, Helle; Jahn, Johanna; Klein, Karl Martin; Leguern, Eric; Lemke, Johannes R.; Lerche, Holger; Marini, Carla; Moller, Rikke S.; Muhle, Hiltrud; Rosenow, Felix; Serratosa, Jose; Suls, Arvid; Stephani, Ulrich; Sterbova, Katalin; Striano, Pasquale; Zara, Federico; Weckhuysen, Sarah; Francklyn, Christopher; Antonellis, Anthony; de Witte, Peter; De Jonghe, Peter Share Save
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Detection of 6-demethoxyubiquinone in CoQ10 deficiency disorders: Insights into enzyme interactions and identification of potential therapeutics Herebian, Diran; Seibt, Annette; Smits, Sander H. J.; Buenning, Gisela; Freyer, Christoph; Prokisch, Holger; Karall, Daniela; Wredenberg, Anna; Wedell, Anna; Lopez, Luis C.; Mayatepek, Ertan; Distelmaier, Felix 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
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Neonatal encephalocardiomyopathy caused by mutations in VARS2 Baertling, Fabian; Alhaddad, Bader; Seibt, Annette; Budaeus, Sonja; Meitinger, Thomas; Strom, Tim M.; Mayatepek, Ertan; Schaper, Joerg; Prokisch, Holger; Haack, Tobias B.; 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
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