نتائج البحث - Réka Kovács-Nagy

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  1. 1
    Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy

    Bi-allelic Truncating Mutations in TANGO2 Cause Infancy-Onset Recurrent Metabolic Crises with Encephalocardiomyopathy حسب Laura S. Kremer, Felix Distelmaier, Bader Alhaddad, Maja Hempel, Arcangela Iuso, Clemens Küpper, Chris Mühlhausen, Réka Kovács-Nagy, Robin Satanovskij, Elisabeth Graf, Riccardo Berutti, Gertrud Eckstein, Richard Durbin, Sascha Sauer, Georg F. Hoffmann, Tim M. Strom, René Santer, Thomas Meitinger, Thomas Klopstock, Holger Prokisch, Tobias B. Haack

    منشور في 2016
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  2. 2
    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies

    Combined Respiratory Chain Deficiency and <i>UQCC2</i> Mutations in Neonatal Encephalomyopathy: Defective Supercomplex Assembly in Complex III Deficiencies حسب René G. Feichtinger, Michaela Brunner‐Krainz, Bader Alhaddad, Saskia B. Wortmann, Réka Kovács-Nagy, Tatjana Stojaković, Wolfgang Erwa, Bernhard Resch, Werner Windischhofer, Sarah Verheyen, Sabine Uhrig, Christian Windpassinger, Felix Sternberg, Christine Makowski, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Wolfgang Sperl, Tobias B. Haack, Johannes A. Mayr

    منشور في 2017
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  3. 3
    <i>CAD</i>mutations and uridine-responsive epileptic encephalopathy

    <i>CAD</i>mutations and uridine-responsive epileptic encephalopathy حسب Johannes Koch, Johannes A. Mayr, Bader Alhaddad, Christian Rauscher, Jörgen Bierau, Réka Kovács-Nagy, Karlien L. M. Coene, Ingrid Bader, Monika Holzhacker, Holger Prokisch, Hanka Venselaar, Ron A. Wevers, Felix Distelmaier, Tilman Polster, Steffen Leiz, Cornelia Betzler, Tim M. Strom, Wolfgang Sperl, Thomas Meitinger, Saskia B. Wortmann, Tobias B. Haack

    منشور في 2016
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  4. 4
    RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities

    RINT1 Bi-allelic Variations Cause Infantile-Onset Recurrent Acute Liver Failure and Skeletal Abnormalities حسب Margot A. Cousin, Erin Conboy, Jian‐She Wang, Dominic Lenz, Tanya L. Schwab, Monique Williams, Roshini S. Abraham, Sarah Barnett, Mounif El‐Youssef, Rondell P. Graham, Luz Helena Gutierrez Sanchez, Linda Hasadsri, Georg F. Hoffmann, Nathan C. Hull, Robert Kopajtich, Réka Kovács-Nagy, Jiaqi Li, Daniela Marx-Berger, Valérie A. McLin, Mark A. McNiven, Taofic Mounajjed, Holger Prokisch, Daisy Rymen, Ryan J. Schulze, Christian Staufner, Ye Yang, Karl J. Clark, Brendan C. Lanpher, Eric W. Klee

    منشور في 2019
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  5. 5
    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses

    NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses حسب Nicole J. Van Bergen, Yiran Guo, Julia Rankin, Nicole Paczia, Julia Becker‐Kettern, Laura S. Kremer, Angela Pyle, Jean-François Conrotte, Carolyn Ellaway, Peter Procopis, Kristina Prelog, Tessa Homfray, Júlia Baptista, Emma L. Baple, Matthew N. Wakeling, Sean Massey, Daniel P. Kay, Anju Shukla, Katta M. Girisha, Leslie Lewis, Saikat Santra, Rachel Power, Piers Daubeney, Julio Montoya, Eduardo Ruiz‐Pesini, Réka Kovács-Nagy, Martin Pritsch, Uwe Ahting, David R. Thorburn, Holger Prokisch, Robert W. Taylor, John Christodoulou, Carole L. Linster, Sian Ellard, Hákon Hákonarson

    منشور في 2018
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  6. 6
    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy

    Bi-allelic ADPRHL2 Mutations Cause Neurodegeneration with Developmental Delay, Ataxia, and Axonal Neuropathy حسب Katharina Danhauser, Bader Alhaddad, Christine Makowski, Dorota Piekutowska‐Abramczuk, Steffen Syrbe, Natalia Gomez‐Ospina, Melanie A. Manning, Anna Kostera‐Pruszczyk, Claudia Krahn-Peper, Riccardo Berutti, Réka Kovács-Nagy, Mirjana Gušić, Elisabeth Graf, Lucia Laugwitz, Michaela Röblitz, Andreas Wroblewski, Hans Hartmann, Anibh M. Das, Eva Bültmann, Fang Fang, Manting Xu, Ulrich A. Schatz, Daniela Karall, Herta Zellner, Edda Haberlandt, René G. Feichtinger, Johannes A. Mayr, Thomas Meitinger, Holger Prokisch, Tim M. Strom, Rafał Płoski, Georg F. Hoffmann, Maciej Pronicki, Penelope E. Bonnen, Susanne Morlot, Tobias B. Haack

    منشور في 2018
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  7. 7
    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy

    Impaired complex I repair causes recessive Leber’s hereditary optic neuropathy حسب Sarah L. Stenton, Н Л Шеремет, Claudia B. Catarino, N.A. Andreeva, Zahra Assouline, Piero Barboni, Ortal Barel, Riccardo Berutti, Igor Bychkov, Leonardo Caporali, Mariantonietta Capristo, Michele Carbonelli, Maria Lucia Cascavilla, Peter Charbel Issa, Peter Freisinger, S. Gerber, Daniele Ghezzi, Elisabeth Graf, Juliana Heidler, Maja Hempel, Elise Héon, Y.S. Itkis, Elisheva Javasky, Josseline Kaplan, Robert Kopajtich, Cornelia Kornblum, Réka Kovács-Nagy, Tatiana Krylova, Wolfram S. Kunz, Chiara La Morgia, Costanza Lamperti, Christina Ludwig, Pedro Felipe Malacarne, Alessandra Maresca, Johannes A. Mayr, Jana Meisterknecht, Tatiana A. Nevinitsyna, Flavia Palombo, Ben Pode‐Shakked, M.S. Shmelkova, Tim M. Strom, Francesca Tagliavini, Michal Tzadok, Amelie T. van der Ven, Catherine Vignal, Matias Wagner, Ekaterina Zakharova, N.V. Zhorzholadze, Jean‐Michel Rozet, Valério Carelli, Polina G. Tsygankova, Thomas Klopstock, Ilka Wittig, Holger Prokisch

    منشور في 2021
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  8. 8
    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases

    Progressive deafness–dystonia due to <i>SERAC1</i> mutations: A study of 67 cases حسب Roeltje R. Maas, Katarzyna Iwanicka‐Pronicka, Sema Kalkan Uçar, Bader Alhaddad, Moeenaldeen AlSayed, Mohammed Al‐Owain, Hamad Alzaidan, Shanti Balasubramaniam, Ivo Barić, Dalal Bubshait, Alberto Burlina, John Christodoulou, Wendy K. Chung, Roberto Colombo, Niklas Darín, Peter Freisinger, Maria Teresa Garcia Silva, Stephanie Grünewald, Tobias B. Haack, Peter M. van Hasselt, Omar Hikmat, Friederike Hörster, Pirjo Isohanni, Khushnooda Ramzan, Réka Kovács-Nagy, Zita Krūmiņa, Elena Martín‐Hernández, Johannes A. Mayr, Patricia McClean, Linda De Meırleır, K Naess, Lock Hock Ngu, Magdalena Pajdowska, Shamima Rahman, Gillian Riordan, Lisa G. Riley, Benjamin Röeben, Frank Rutsch, René Santer, Manuel Schiff, Martine Seders, Sílvia Sequeira, Wolfgang Sperl, Christian Staufner, Matthis Synofzik, Robert W. Taylor, Joanna Trubicka, Konstantinos Tsiakas, Özlem Ünal, Evangeline Wassmer, Yehani Wedatilake, Toni Wolff, Holger Prokisch, Éva Morava, Ewa Pronicka, Ron A. Wevers, Arjan Pm de Brouwer, Saskia B. Wortmann

    منشور في 2017
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  9. 9
    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish

    Biallelic VARS variants cause developmental encephalopathy with microcephaly that is recapitulated in vars knockout zebrafish حسب Aleksandra Siekierska, Hannah Stamberger, Tine Deconinck, Stephanie N. Oprescu, Michèle Partoens, Yifan Zhang, Jo Sourbron, Elias Adriaenssens, Patrick Mullen, Patrick Wiencek, Katia Hardies, Jeong-Soo Lee, Hoi-Khoanh Giong, Felix Distelmaier, Orly Elpeleg, Katherine L. Helbig, Joseph H. Hersh, Sedat Işıkay, Elizabeth Jordan, Ender Karaca, Angéla Kecskés, James R. Lupski, Réka Kovács-Nagy, Patrick May, Vinodh Narayanan, Manuela Pendziwiat, Keri Ramsey, Sampathkumar Rangasamy, Deepali N. Shinde, Ronen Spiegel, Vincent Timmerman, Sarah von Spiczak, Ingo Helbig, Chris Balak, Newell Belnap, Ana M. Claasen, Amanda Courtright, Matt De Both, Matthew J. Huentelman, Marcus Naymik, Ryan Richholt, Ashley L. Siniard, Szabolcs Szelinger, David W. Craig, Isabelle Schrauwen, Zaid Afawi, Rudi Balling, Stéphanie Baulac, Nina Barišić, Hande Çağlayan, Dana Craiu, Rosa Guerrero-López, Renzo Guerrini, Helle Hjalgrim, Johanna Jähn, Karl Martin Klein, Eric LeGuern, Johannes R. Lemke, Holger Lerche, Carla Marini, Rikke S. Møller, Hiltrud Muhle, Felix Rosenow, José M. Serratosa, Arvid Suls, Ulrich Stephani, Katalin Štěrbová, Pasquale Striano, Federico Zara, Sarah Weckhuysen, Christopher Francklyn, Anthony Antonellis, Peter de Witte, Peter De Jonghe

    منشور في 2019
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