Výsledky vyhledávání - Christian Staufner

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  1. 1
    Glutamate receptors in pediatric tumors of the central nervous system

    Glutamate receptors in pediatric tumors of the central nervous system Autor Katja Brocke, Christian Staufner, Harald Luksch, Kathrin Geiger, Andrzej Stepulak, Jenny Marzahn, Gabriele Schackert, Achim Temme, Chrysanthy Ikonomidou

    Vydáno 2010
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  2. 2
    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders

    Consensus recommendations for the diagnosis, treatment and follow‐up of inherited methylation disorders Autor Ivo Barić, Christian Staufner, Persephone Augoustides‐Savvopoulou, Yin‐Hsiu Chien, Dries Dobbelaere, Sarah C. Grünert, Thomas Opladen, Danijela Petković Ramadža, Bojana Rakić, Anna Wedell, Henk J. Blom

    Vydáno 2016
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  3. 3
    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria

    DHTKD1 Mutations Cause 2-Aminoadipic and 2-Oxoadipic Aciduria Autor Katharina Danhauser, Sven W. Sauer, Tobias B. Haack, Thomas Wieland, Christian Staufner, Elisabeth Graf, Johannes Zschocke, Tim M. Strom, Thorsten Traub, Jürgen G. Okun, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch, Stefan Kölker

    Vydáno 2012
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  4. 4
    Impact of clinical exomes in neurodevelopmental and neurometabolic disorders

    Impact of clinical exomes in neurodevelopmental and neurometabolic disorders Autor Christina Evers, Christian Staufner, Martin Granzow, Nagarajan Paramasivam, Katrin Hinderhofer, Lilian Kaufmann, Christine Fischer, Christian Thiel, Thomas Opladen, Urania Kotzaeridou, Stefan Wiemann, Matthias Schlesner, Roland Eils, Stefan Kölker, Claus R. Bartram, Georg F. Hoffmann, Ute Moog

    Vydáno 2017
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  5. 5
    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options

    Adenosine kinase deficiency: expanding the clinical spectrum and evaluating therapeutic options Autor Christian Staufner, Martin Lindner, Carlo Dionisi‐Vici, Peter Freisinger, Dries Dobbelaere, Claire Douillard, Nawal Makhseed, Beate K. Straub, Kimia Kahrizi, Diana Ballhausen, Giancarlo la Marca, Stefan Kölker, Dorothea Haas, Georg F. Hoffmann, Sarah C. Grünert, Henk J. Blom

    Vydáno 2015
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  6. 6
    SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN)

    SCYL1 variants cause a syndrome with lowγ-glutamyl-transferase cholestasis, acute liver failure, and neurodegeneration (CALFAN) Autor Dominic Lenz, Patricia McClean, Aydan Kansu, Penelope E. Bonnen, Giusy Ranucci, Christian Thiel, Beate K. Straub, Inga Harting, Bader Alhaddad, Bianca Dimitrov, Urania Kotzaeridou, Daniel Wenning, Raffaele Iorio, Ryan Himes, Zarife Kuloğlu, Emma L. Blakely, Robert W. Taylor, Thomas Meitinger, Stefan Kölker, Holger Prokisch, Georg F. Hoffmann, Tobias B. Haack, Christian Staufner

    Vydáno 2018
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  7. 7
    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects

    <i>MPV17</i>-related mitochondrial DNA maintenance defect: New cases and review of clinical, biochemical, and molecular aspects Autor Ayman W. El‐Hattab, Julia Wang, Hongzheng Dai, Mohammed Almannai, Christian Staufner, Majid Alfadhel, Michael J. Gambello, Pankaj Prasun, Saleem Raza, Hernando Lyons, Manal Afqi, Mohammed A. Saleh, Eissa Faqeih, Hamad Alzaidan, Abduljabbar Alshenqiti, Leigh Anne Flore, Jozef Hertecant, Stephanie Sacharow, Deborah Barbouth, Kei Murayama, Amit A. Shah, Henry C. Lin, Lee-Jun Wong

    Vydáno 2017
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  8. 8
    Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy

    Biallelic IARS Mutations Cause Growth Retardation with Prenatal Onset, Intellectual Disability, Muscular Hypotonia, and Infantile Hepatopathy Autor Robert Kopajtich, Kei Murayama, Andreas Janecke, Tobias B. Haack, Maximilian Breuer, A. S. Knisely, Inga Harting, Toya Ohashi, Yasushi Okazaki, Daisaku WATANABE, Yoshimi Tokuzawa, Urania Kotzaeridou, Stefan Kölker, Sven W. Sauer, Michael Carl, Simon Straub, Andreas Entenmann, Elke R. Gizewski, René G. Feichtinger, Johannes A. Mayr, K. Lackner, Tim M. Strom, Thomas Meitinger, Thomas Müller, Akira Ohtake, Georg F. Hoffmann, Holger Prokisch, Christian Staufner

    Vydáno 2016
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  9. 9
    Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders

    Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders Autor Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh M. Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia B. Hennermann, Michel Hochuli, Martina Huemer, Daniela Karall, Stefan Kölker, Robin Lachmann, Amelie S. Lotz‐Havla, Dorothea Möslinger, Jean‐Marc Nuoffer, Barbara Plecko, Frank Rutsch, René Santer, Ute Spiekerkoetter, Christian Staufner, Tamar Stricker, Frits A. Wijburg, Monique Williams, Peter Burgard, Johannes Häberle

    Vydáno 2013
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  10. 10
    Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy

    Biallelic Mutations in NBAS Cause Recurrent Acute Liver Failure with Onset in Infancy Autor Tobias B. Haack, Christian Staufner, Marlies Köpke, Beate K. Straub, Stefan Kölker, Christian Thiel, Peter Freisinger, Ivo Barić, Patrick McKiernan, Nicola Dikow, Inga Harting, Flemming Beisse, Peter Burgard, Urania Kotzaeridou, J. Kühr, Urban Himbert, Robert W. Taylor, Felix Distelmaier, Jerry Vockley, Lina Ghaloul‐Gonzalez, Johannes Zschocke, Laura S. Kremer, Elisabeth Graf, Thomas Schwarzmayr, Daniel M. Bader, Julien Gagneur, Thomas Wieland, Caterina Terrile, Tim M. Strom, Thomas Meitinger, Georg F. Hoffmann, Holger Prokisch

    Vydáno 2015
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  11. 11
    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 Autor 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

    Vydáno 2019
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  12. 12
    Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders

    Integration of proteomics with genomics and transcriptomics increases the diagnostic rate of Mendelian disorders Autor Robert Kopajtich, Dmitrii Smirnov, Sarah L. Stenton, Stefan Loipfinger, Chen Meng, Ines F. Scheller, Peter Freisinger, Robert Baski, Riccardo Berutti, Jürgen Behr, Martina Bucher, Felix Distelmaier, Elisabeth Graf, Mirjana Gušić, Maja Hempel, Lea Kulterer, Johannes A. Mayr, Thomas Meitinger, Christian Mertes, Metodi D. Metodiev, Agnieszka Nadel, Alessia Nasca, Akira Ohtake, Yasushi Okazaki, Rikke Katrine Jentoft Olsen, Dorota Piekutowska‐Abramczuk, Agnès Rötig, René Santer, Detlev Schindler, Abdelhamid Slama, Christian Staufner, Tim M. Strom, Patrick Verloo, Jürgen‐Christoph von Kleist-Retzow, Saskia B. Wortmann, Vicente A. Yépez, Costanza Lamperti, Daniele Ghezzi, Kei Murayama, Christina Ludwig, Julien Gagneur, Holger Prokisch

    Vydáno 2021
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  13. 13
    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients

    Defining clinical subgroups and genotype–phenotype correlations in NBAS-associated disease across 110 patients Autor Christian Staufner, Bianca Peters, Matias Wagner, Seham Alameer, Ivo Barić, Pierre Broué, Fatma Derya Bulut, Joseph A. Church, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Anke Dick, Nicola Dikow, Carlo Dionisi‐Vici, Felix Distelmaier, Neslihan Ekşi Bozbulut, François Feillet, Emmanuel Gonzalès, Nedim Hadžić, Fabian Hauck, Robert Hegarty, Maja Hempel, Theresia Herget, Christoph Klein, Vassiliki Konstantopoulou, Robert Kopajtich, Alice Kuster, Martin W. Laaß, Elke Lainka, Catherine Larson‐Nath, Alexander Leibner, Eberhard Lurz, Johannes A. Mayr, Patrick McKiernan, Karine Mention, Ute Moog, Neslihan Önenli Mungan, Korbinian M. Riedhammer, René Santer, Irene Valenzuela, Jerry Vockley, Dominik S. Westphal, Arnaud Wiedemann, Saskia B. Wortmann, Gaurav D. Diwan, Robert B. Russell, Holger Prokisch, Sven F. Garbade, Stefan Kölker, Georg F. Hoffmann, Dominic Lenz

    Vydáno 2019
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  14. 14
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics Autor Vicente A. Yépez, Mirjana Gušić, Robert Kopajtich, Christian Mertes, Nicholas H. Smith, Charlotte L. Alston, Rui Ban, Skadi Beblo, Riccardo Berutti, Holger Blessing, Elżbieta Ciara, Felix Distelmaier, Peter Freisinger, Johannes Häberle, Susan J. Hayflick, Maja Hempel, Yulia S. Itkis, Yoshihito Kishita, Thomas Klopstock, Tatiana Krylova, Costanza Lamperti, Dominic Lenz, Christine Makowski, Signe Mosegaard, Michaela Müller, Gerard Muñoz-Pujol, Agnieszka Nadel, Akira Ohtake, Yasushi Okazaki, Elena Procopio, Thomas Schwarzmayr, Joél Smet, Christian Staufner, Sarah L. Stenton, Tim M. Strom, Caterina Terrile, Frederic Tort, Rudy Van Coster, Arnaud Vanlander, Matias Wagner, Manting Xu, Fang Fang, Daniele Ghezzi, Johannes A. Mayr, Dorota Piekutowska‐Abramczuk, Antònia Ribes, Agnès Rötig, Robert W. Taylor, Saskia B. Wortmann, Kei Murayama, Thomas Meitinger, Julien Gagneur, Holger Prokisch

    Vydáno 2022
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  15. 15
    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency

    Multisystem inflammation and susceptibility to viral infections in human ZNFX1 deficiency Autor Stefano Vavassori, Janet Chou, Laura Faletti, Veronika Haunerdinger, Lennart Opitz, Pascal Joset, Christopher Fraser, Seraina Prader, Xianfei Gao, Luise A. Schuch, Matias Wagner, Julia Hoefele, Maria Elena Maccari, Ying Zhu, George Elakis, Michael T. Gabbett, Maria Forstner, Heymut Omran, Thomas Kaiser, Christina Keßler, Heike Olbrich, Patrick Frosk, Abduarahman Almutairi, Craig D. Platt, Megan Elkins, Sabrina Weeks, Tamar Rubin, Raquel Planas, Tommaso Marchetti, Danil Koovely, Verena Klämbt, Neveen A. Soliman, Sandra von Hardenberg, Christian Klemann, Ulrich Baumann, Dominic Lenz, Andreas Klein‐Franke, Martin Schwemmle, Michael Huber, Ekkehard Sturm, Steffen Hartleif, Karsten Häffner, Charlotte Gimpel, Barbara Brotschi, Guido F. Laube, Tayfun Güngör, Michael F. Buckley, Raimund Kottke, Christian Staufner, Friedhelm Hildebrandt, Simone Reu‐Hofer, Solange Moll, Achim Weber, Hundeep Kaur, Stephan Ehl, Sebastian Hiller, Raif S. Geha, Tony Roscioli, Matthias Griese, Jana Pachlopnik Schmid

    Vydáno 2021
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  16. 16
    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 Autor 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

    Vydáno 2017
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  17. 17
    Monogenic variants in dystonia: an exome-wide sequencing study

    Monogenic variants in dystonia: an exome-wide sequencing study Autor Michael Zech, Robert Jech, Sylvia Boesch, Matěj Škorvánek, Sandrina Weber, Matias Wagner, Chen Zhao, Angela Jochim, Ján Necpál, Yasemin Dincer, Katharina Vill, Felix Distelmaier, Malgorzata Stoklosa, Martin Krenn, Stephan Grunwald, Tobias Bock-Bierbaum, Anna Fečíková, Petra Havránková, Jan Roth, Iva Příhodová, Miriam Adamovičová, Olga Ulmanová, Karel Bechyně, Pavlína Danhofer, Branislav Veselý, Vladimír Haň, Petra Pavelekova, Zuzana Gdovinová, Tobias Mantel, Tobias Meindl, Alexandra Sitzberger, Sebastian Schröder, Astrid Blaschek, Timo Roser, Michaela Bonfert, Edda Haberlandt, Barbara Plecko, Birgit Leineweber, Steffen Berweck, T. Herberhold, Berthold Langguth, Jana Švantnerová, Michal Minár, Gonzalo Alonso Ramos-Rivera, Monica H. Wojcik, Sander Pajusalu, Katrin Õunap, Ulrich A. Schatz, Laura Pölsler, Ivan Milenković, Franco Laccone, Veronika Pilshofer, Roberto Colombo, Steffi Patzer, Arcangela Iuso, Julia Vera, M. Troncoso, Fang Fang, Holger Prokisch, Friederike Wilbert, Matthias Eckenweiler, Elisabeth Graf, Dominik S. Westphal, Korbinian M. Riedhammer, Theresa Brunet, Bader Alhaddad, Riccardo Berutti, Tim M. Strom, Martin Hecht, Matthias Baumann, Marc E. Wolf, Aida Telegrafi, Richard Person, Francisca Millan Zamora, Lindsay B. Henderson, David Weise, Thomas Musacchio, Jens Volkmann, Anna Szuto, Jessica Becker, Kirsten Cremer, Thomas Sycha, Fritz Zimprich, Verena Kraus, Christine Makowski, Pedro Gonzalez‐Alegre, Tanya Bardakjian, Laurie J. Ozelius, Annalisa Vetro, Renzo Guerrini, Esther M. Maier, Ingo Borggraefe, Alice Kuster, Saskia B. Wortmann, Annette Hackenberg, Robert Steinfeld, Birgit Assmann, Christian Staufner, Thomas Opladen, Evžen Růžička

    Vydáno 2020
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  18. 18
    Genetic landscape of pediatric acute liver failure of indeterminate origin

    Genetic landscape of pediatric acute liver failure of indeterminate origin Autor Dominic Lenz, Lea D. Schlieben, Masaru Shimura, Alyssa Bianzano, Dmitrii Smirnov, Robert Kopajtich, Riccardo Berutti, Rüdiger Adam, Denise Aldrian, Ivo Barić, Ulrich Baumann, Neslihan Ekşi Bozbulut, Melanie Brugger, Theresa Brunet, Philip Bufler, Birutė Burnytė, Pier Luigi Calvo, Ellen Crushell, Buket Dalgıç, Anibh M. Das, Antal Dezsöfi, Felix Distelmaier, Alexander Fichtner, Peter Freisinger, Sven F. Garbade, Harald Gaspar, Louise Goujon, Nedim Hadžić, Steffen Hartleif, Bianca Hegen, Maja Hempel, Stephan Henning, André Hoerning, Roderick H.J. Houwen, Joanne Hughes, Raffaele Iorio, Katarzyna Iwanicka‐Pronicka, Martin Jankofsky, Norman Junge, Ino Kanavaki, Aydan Kansu, Sonja Kaspar, Simone Kathemann, Deidre Kelly, Ceyda Tuna Kırşaçlıoğlu, Birgit Knoppke, Martina Kohl, Heike Kölbel, Stefan Kölker, Vassiliki Konstantopoulou, Tatiana Krylova, Zarife Kuloğlu, Alice Kuster, Martin W. Laaß, Elke Lainka, Eberhard Lurz, Hanna Mandel, Katharina Mayerhanser, Johannes A. Mayr, Patrick McKiernan, Patricia McClean, Valérie A. McLin, Karine Mention, Hanna Müller, Laurent Pasquier, Martin Pavlov, Natalia L. Pechatnikova, Bianca Peters, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Denisa Pilic, Sanjay Rajwal, Nathalie Rock, Agnès Roetig, René Santer, Wilfried Schenk, Наталя Семенова, Christiane Sokollik, Ekkehard Sturm, Robert W. Taylor, Eva Tschiedel, Vaidotas Urbonas, Roser Urreizti, Jan Vermehren, Jerry Vockley, Georg-Friedrich Vogel, Matias Wagner, Wendy van der Woerd, Saskia B. Wortmann, Ekaterina Zakharova, Georg F. Hoffmann, Thomas Meitinger, Kei Murayama, Christian Staufner, Holger Prokisch

    Vydáno 2023
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