Not logged in Successful treatment of neonatal COQ2 deficiency with 4-hydroxybenzoic acid Munch, Juliane; Strahleck, Thomas; Seibt, Annette; Smits, Sander H. J.; Herbrich, Sonja; Hohnecker, Ann-Katrin; Wilhelm, Bernhard; Rafat, Neysan; Reihle, Christof; Stirnkorb, Christian; Parczyk, Nadiya; Himmelreich, Nastassja; Dinwiddie, April; Mayatepek, Ertan; Herebian, Diran; Lopez, Luis C.; Distelmaier, Felix Share Save
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Biallelic truncating variants in PACSIN3 cause childhood-onset myopathy with hyperCKaemia Distelmaier, Felix; Sezer, Abdullah; Helm, Christina; Waldmueller, Stephan; Seibt, Annette; Gangfuss, Andrea; Koelbel, Heike; Schara-Schmidt, Ulrike; Yuksel, Deniz; Talim, Beril; Mayatepek, Ertan; Nikolin, Stefan; Weis, Joachim; Roos, Andreas; Haack, Tobias B. 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
Biallelic variants in CRIPT cause a Rothmund- Thomson-like syndrome with increased cellular senescence Averdunk, Luisa; Huetzen, Maxim A.; Moreno-Andres, Daniel; Kalb, Reinhard; McKee, Shane; Hsieh, Tzung-Chien; Seibt, Annette; Schouwink, Marten; Lalani, Seema; Faqeih, Eissa Ali; Brunet, Theresa; Boor, Peter; Neveling, Kornelia; Hoischen, Alexander; Hildebrandt, Barbara; Graf, Elisabeth; Lu, Linchao; Jin, Weidong; Schaper, Joerg; Omer, Jamal A.; Demaret, Tanguy; Fleischer, Nicole; Schindler, Detlev; Krawitz, Peter; Mayatepek, Ertan; Wieczorek, Dagmar; Wang, Lisa L.; Antonin, Wolfram; Jachimowicz, Ron D.; von Felbert, Verena; Distelmaier, Felix Share Save
De novo missense variants in RRAGC lead to a fatal mTORopathy of early childhood Reijnders, Margot R. F.; Seibt, Annette; Brugger, Melanie; Lamers, Ideke J. C.; Ott, Torsten; Klaas, Oliver; Horvath, Judit; Rose, Ailsa M. S.; Craghill, Isabel M.; Brunet, Theresa; Graf, Elisabeth; Mayerhanser, Katharina; Hellebrekers, Debby; Pauck, David; Neuen-Jacob, Eva; Rodenburg, Richard J. T.; Wieczorek, Dagmar; Klee, Dirk; Mayatepek, Ertan; Driessen, Gertjan; Bindermann, Robert; Averdunk, Luisa; Lohmeier, Klaus; Sinnema, Margje; Stegmann, Alexander P. A.; Roepman, Ronald; Poulter, James A.; Distelmaier, Felix Share Save
Bi-Allelic COQ4 Variants Cause Adult-Onset Ataxia-Spasticity Spectrum Disease Cordts, Isabell; Semmler, Luisa; Prasuhn, Jannik; Seibt, Annette; Herebian, Diran; Navaratnarajah, Tharsini; Park, Joohyun; Deininger, Natalie; Laugwitz, Lucia; Goericke, Sophia L.; Lingor, Paul; Brueggemann, Norbert; Muenchau, Alexander; Synofzik, Matthis; Timmann, Dagmar; Mayr, Johannes A.; Haack, Tobias B.; Distelmaier, Felix; Deschauer, Marcus Share Save
Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants Navaratnarajah, Tharsini; Bellmann, Marlen; Seibt, Annette; Anand, Ruchika; Degistirici, Oezer; Meisel, Roland; Mayatepek, Ertan; Reichert, Andreas; Baertling, Fabian; Distelmaier, Felix 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
The long non-coding RNA HOTAIRM1 promotes tumor aggressiveness and radiotherapy resistance in glioblastoma Ahmadov, Ulvi; Picard, Daniel; Bartl, Jasmin; Silginer, Manuela; Trajkovic-Arsic, Marija; Qin, Nan; Bluemel, Lena; Wolter, Marietta; Lim, Jonathan K. M.; Pauck, David; Winkelkotte, Alina Marie; Melcher, Marlen; Langini, Maike; Marquardt, Viktoria; Sander, Felix; Stefanski, Anja; Steltgens, Sascha; Hassiepen, Christina; Kaufhold, Anna; Meyer, Frauke-Dorothee; Seibt, Annette; Kleinesudeik, Lara; Hain, Anika; Muenk, Carsten; Knobbe-Thomsen, Christiane Brigitte; Schramm, Alexander; Fischer, Ute; Leprivier, Gabriel; Stuehler, Kai; Fulda, Simone; Siveke, Jens T.; Distelmaier, Felix; Borkhardt, Arndt; Weller, Michael; Roth, Patrick; Reifenberger, Guido; Remke, Marc Share Save
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De Novo and Bi-allelic Pathogenic Variants in NARS1 Cause Neurodevelopmental Delay Due to Toxic Gain-of-Function and Partial Loss-of-Function Effects Manole, Andreea; Efthymiou, Stephanie; O'Connor, Emer; Mendes, Marisa, I; Jennings, Matthew; Maroofian, Reza; Davagnanam, Indran; Mankad, Kshitij; Lopez, Maria Rodriguez; Salpietro, Vincenzo; Harripaul, Ricardo; Badalato, Lauren; Walia, Jagdeep; Francklyn, Christopher S.; Athanasiou-Fragkouli, Alkyoni; Sullivan, Roisin; Desai, Sonal; Baranano, Kristin; Zafar, Faisal; Rana, Nuzhat; Ilyas, Muhammed; Horga, Alejandro; Kara, Majdi; Mattioli, Francesca; Goldenberg, Alice; Griffin, Helen; Piton, Amelie; Henderson, Lindsay B.; Kara, Benyekhlef; Aslanger, Ayca Dilruba; Raaphorst, Joost; Pfundt, Rolph; Portier, Ruben; Shinawi, Marwan; Kirby, Amelia; Christensen, Katherine M.; Wang, Lu; Rosti, Rasim O.; Paracha, Sohail A.; Sarwar, Muhammad T.; Jenkins, Dagan; Ahmed, Jawad; Santoni, Federico A.; Ranza, Emmanuelle; Iwaszkiewicz, Justyna; Cytrynbaum, Cheryl; Weksberg, Rosanna; Wentzensen, Ingrid M.; Sacoto, Maria J. Guillen; Si, Yue; Telegrafi, Aida; Andrews, Marisa, V; Baldridge, Dustin; Gabriel, Heinz; Mohr, Julia; Oehl-Jaschkowitz, Barbara; Debard, Sylvain; Senger, Bruno; Fischer, Frederic; van Ravenwaaij, Conny; Fock, Annemarie J. M.; Stevens, Servi J. C.; Bahler, Jurg; Nasar, Amina; Mantovani, John F.; Manzur, Adnan; Sarkozy, Anna; Smith, Desiree E. C.; Salomons, Gajja S.; Ahmed, Zubair M.; Riazuddin, Shaikh; Riazuddin, Saima; Usmani, Muhammad A.; Seibt, Annette; Ansar, Muhammad; Antonarakis, Stylianos E.; Vincent, John B.; Ayub, Muhammad; Grimmel, Mona; Jelsig, Anne Marie; Hjortshoj, Tina Duelund; Karstensen, Helena Gasdal; Hummel, Marybeth; Haack, Tobias B.; Jamshidi, Yalda; Distelmaier, Felix; Horvath, Rita; Gleeson, Joseph G.; Becker, Hubert; Mandel, Jean-Louis; Koolen, David A.; Houlden, Henry Share Save
Bi-allelic Variants in RALGAPA1 Cause Profound Neurodevelopmental Disability, Muscular Hypotonia, Infantile Spasms, and Feeding Abnormalities Wagner, Matias; Skorobogatko, Yuliya; Pode-Shakked, Ben; Powell, Cynthia M.; Alhaddad, Bader; Seibt, Annette; Barel, Ortal; Heimer, Gali; Hoffmann, Chen; Demmer, Laurie A.; Perilla-Young, Yezmin; Remke, Marc; Wieczorek, Dagmar; Navaratnarajah, Tharsini; Lichtner, Peter; Klee, Dirk; Shamseldin, Hanan E.; Al Mutairi, Fuad; Mayatepek, Ertan; Strom, Tim; Meitinger, Thomas; Alkuraya, Fowzan S.; Anikster, Yair; Saltiel, Alan R.; Distelmaier, Felix Share Save
Choline transporter-like I deficiency causes a new type of childhood-onset neurodegeneration Fagerberg, Christina R.; Taylor, Adrian; Distelmaier, Felix; Schroder, Henrik D.; Kibaek, Maria; Wieczorek, Dagmar; Tarnopolsky, Mark; Brady, Lauren; Larsen, Martin J.; Jamra, Rami A.; Seibt, Annette; Hejbol, Eva Kildall; Gade, Else; Markovic, Ljubo; Klee, Dirk; Nagy, Peter; Rouse, Nicholas; Agarwal, Prasoon; Dolinsky, Vernon W.; Bakovic, Marica Share Save
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
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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
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