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收藏分享 收藏 分享 收藏 分享 收藏 Impaired complex I repair causes recessive Leber?s hereditary optic neuropathy Sarah L. Stenton, ... , Ilka Wittig, Holger Prokisch ...
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.; Issa, Peter Charbel; 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 分享 收藏 RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal AbnormalitiesCousin, Margot A.; Conboy, Erin; Wang, Jian-She; Lenz, Dominic; Schwab, Tanya L.; Williams, Monique; Abraham, Roshini S.; Barnett, Sarah; El-Youssef, Mounif; Graham, Rondell P.; Sanchez, Luz Helena Gutierrez; Hasadsri, Linda; Hoffmann, Georg F.; Hull, Nathan C.; Kopajtich, Robert; Kovacs-Nagy, Reka; Li, Jia-qi; Marx-Berger, Daniela; Mclin, Valerie; McNiven, Mark A.; Mounajjed, Taofic; Prokisch, Holger; Rymen, Daisy; Schulze, Ryan J.; Staufner, Christian; Yang, Ye; Clark, Karl J.; Lanpher, Brendan C.; Klee, Eric W. 分享 收藏 Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafishSiekierska, 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 分享 收藏 NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnessesVan Bergen, Nicole J.; Guo, Yiran; Rankin, Julia; Paczia, Nicole; Becker-Kettern, Julia; Kremer, Laura S.; Pyle, Angela; Conrotte, Jean-Francois; Ellaway, Carolyn; Procopis, Peter; Prelog, Kristina; Homfray, Tessa; Baptista, Julia; Baple, Emma; Wakeling, Matthew; Massey, Sean; Kay, Daniel P.; Shukla, Anju; Girisha, Katta M.; Lewis, Leslie E. S.; Santra, Saikat; Power, Rachel; Daubeney, Piers; Montoya, Julio; Ruiz-Pesini, Eduardo; Kovacs-Nagy, Reka; Pritsch, Martin; Ahting, Uwe; Thorburn, David R.; Prokisch, Holger; Taylor, Robert W.; Christodoulou, John; Linster, Carole L.; Ellard, Sian; Hakonarson, Hakon 分享 收藏 Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal NeuropathyDanhauser, 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. 分享 收藏 Compound heterozygous SPATA5 variants in four families and functional studies of SPATA5 deficiencyPuusepp, Sanna; Kovacs-Nagy, Reka; Alhaddad, Bader; Braunisch, Matthias; Hoffmann, Georg F.; Kotzaeridou, Urania; Lichvarova, Lucia; Liiv, Mailis; Makowski, Christine; Mandel, Merle; Meitinger, Thomas; Pajusalu, Sander; Rodenburg, Richard J.; Safiulina, Dzhamilja; Strom, Tim M.; Talvik, Inga; Vaarmann, Annika; Wilson, Callum; Kaasik, Allen; Haack, Tobias B.; Ounap, Katrin 分享 收藏 Progressive deafness-dystonia due to SERAC1 mutations: A study of 67 casesMaas, Roeltje R.; Iwanicka-Pronicka, Katarzyna; Ucar, Sema Kalkan; Alhaddad, Bader; AlSayed, Moeenaldeen; Al-Owain, Mohammed A.; Al-Zaidan, Hamad I.; Balasubramaniam, Shanti; Baric, Ivo; Bubshait, Dalal K.; Burlina, Alberto; Christodoulou, John; Chung, Wendy K.; Colombo, Roberto; Darin, Niklas; Freisinger, Peter; Garcia Silva, Maria Teresa; Grunewald, Stephanie; Haack, Tobias B.; van Hasselt, Peter M.; Hikmat, Omar; Hoerster, Friederike; Isohanni, Pirjo; Ramzan, Khushnooda; Kovacs-Nagy, Reka; Krumina, Zita; Martin-Hernandez, Elena; Mayr, Johannes A.; McClean, Patricia; De Meirleir, Linda; Naess, Karin; Ngu, Lock H.; Pajdowska, Magdalena; Rahman, Shamima; Riordan, Gillian; Riley, Lisa; Roeben, Benjamin; Rutsch, Frank; Santer, Rene; Schiff, Manuel; Seders, Martine; Sequeira, Silvia; Sperl, Wolfgang; Staufner, Christian; Synofzik, Matthis; Taylor, Robert W.; Trubicka, Joanna; Tsiakas, Konstantinos; Unal, Ozlem; Wassmer, Evangeline; Wedatilake, Yehani; Wolff, Toni; Prokisch, Holger; Morava, Eva; Pronicka, Ewa; Wevers, Ron A.; de Brouwer, Arjan P.; Wortmann, Saskia B. 分享 收藏 3-Methylglutaconic aciduria, a frequent but underrecognized finding in carbamoyl phosphate synthetase I deficiencyRokicki, Dariusz; Pajdowska, Magdalena; Trubicka, Joanna; Meow-Keong Thong; Ciara, Elzbieta; Piekutowska-Abramczuk, Dorota; Pronicki, Maciej; Sikora, Roman; Haidar, Rijad; Oltarzewski, Mariusz; Jablonska, Ewa; Muthukumarasamy, Premala; Sthaneswar, Pavai; Gan, Chin-Seng; Krajewska-Walasek, Malgorzata; Carrozzo, Rosalba; Verrigni, Daniela; Semeraro, Michela; Rizzo, Cristiano; Taurisano, Roberta; Alhaddad, Bader; Kovacs-Nagy, Reka; Haack, Tobias B.; Dionisi-Vici, Carlo; Pronicka, Ewa; Wortmann, Saskia B. 分享 收藏 CAD mutations and uridine-responsive epileptic encephalopathyCAD突变与尿苷反应性癫痫性脑病Koch, Johannes; Mayr, Johannes A.; Alhaddad, Bader; Rauscher, Christian; Bierau, Joergen; Kovacs-Nagy, Reka; Coene, Karlien L. M.; Bader, Ingrid; Holzhacker, Monika; Prokisch, Holger; Venselaar, Hanka; Wevers, Ron A.; Distelmaier, Felix; Polster, Tilman; Leiz, Steffen; Betzler, Cornelia; Strom, Tim M.; Sperl, Wolfgang; Meitinger, Thomas; Wortmann, Saskia B.; Haack, Tobias B. 分享 收藏 Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with EncephalocardiomyopathyKremer, Laura S.; Distelmaier, Felix; Alhaddad, Bader; Hempel, Maja; Iuso, Arcangela; Kuepper, Clemens; Muehlhausen, Chris; Kovacs-Nagy, Reka; Satanovskij, Robin; Graf, Elisabeth; Berutti, Riccardo; Eckstein, Gertrud; Durbin, Richard; Sauer, Sascha; Hoffmann, Georg F.; Strom, Tim M.; Santer, Rene; Meitinger, Thomas; Klopstock, Thomas; Prokisch, Holger; Haack, Tobias B. 分享 收藏 分享 收藏 
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