نتائج البحث - Arnaud Vanlander

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  1. 1
    Mutation of the iron‐sulfur cluster assembly gene <i>IBA57</i> causes fatal infantile leukodystrophy

    Mutation of the iron‐sulfur cluster assembly gene <i>IBA57</i> causes fatal infantile leukodystrophy حسب François‐Guillaume Debray, Claudia Stümpfig, Arnaud Vanlander, Vinciane Dideberg, Claire Josse, Jean‐Hubert Caberg, François Boemer, Vincent Bours, René Stevens, Sara Seneca, Joél Smet, Roland Lill, Rudy Van Coster

    منشور في 2015
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    Artigo
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  2. 2
    Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation

    Mitochondria in peroxisome-deficient hepatocytes exhibit impaired respiration, depleted DNA, and PGC-1α independent proliferation حسب Annelies Peeters, Abhijit Babaji Shinde, Ruud Dirkx, Joél Smet, Katrien De Bock, Marc Espeel, Ilse Vanhorebeek, Arnaud Vanlander, Rudy Van Coster, Peter Carmeliet, Marc Fransen, Paul P. Van Veldhoven, Myriam Baes

    منشور في 2014
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    Artigo
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  3. 3
    Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q

    Possible Pathogenic Mechanism of Propofol Infusion Syndrome Involves Coenzyme Q حسب Arnaud Vanlander, Juergen G. Okun, Annick De Jaeger, Joél Smet, Elien De Latter, Boél De Paepe, G. Dacremont, Birgitte Wuyts, Bert Vanheel, Peter De Paepe, Philippe G. Jorens, Niels Van Regenmortel, Rudy Van Coster

    منشور في 2014
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    Artigo
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  4. 4
    A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects

    A novel IKAROS haploinsufficiency kindred with unexpectedly late and variable B-cell maturation defects حسب Debby Bogaert, Hye Sun Kuehn, Carolien Bonroy, Katherine R. Calvo, Joke Dehoorne, Arnaud Vanlander, Marieke De Bruyne, Urszula Cytlak, Venetia Bigley, Frans De Baets, Elfride De Baere, Sergio D. Rosenzweig, Filomeen Haerynck, Mélissa Dullaers

    منشور في 2017
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    Carta
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  5. 5
    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>)

    Two Siblings with Homozygous Pathogenic Splice-Site Variant in Mitochondrial Asparaginyl-tRNA Synthetase (<i>NARS2</i>) حسب Arnaud Vanlander, Björn Menten, Joél Smet, Linda De Meırleır, Tom Sante, Boél De Paepe, Sara Seneca, Sarah F. Pearce, Christopher A. Powell, Sarah Vergult, Alex Michotte, Elien De Latter, Lies Vantomme, Michal Minczuk, Rudy Van Coster

    منشور في 2014
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  6. 6
    New insights into the phenotype of FARS2 deficiency

    New insights into the phenotype of FARS2 deficiency حسب Elise Vantroys, Austin Larson, Marisa W. Friederich, Kaz M. Knight, Michael A. Swanson, Christopher A. Powell, Joél Smet, Sarah Vergult, Boél De Paepe, Sara Seneca, Herbert Roeyers, Björn Menten, Michal Minczuk, Arnaud Vanlander, Johan Van Hove, Rudy Van Coster

    منشور في 2017
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  7. 7
    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder

    Mutations in the mitochondrial cysteinyl-tRNA synthase gene,<i>CARS2,</i>lead to a severe epileptic encephalopathy and complex movement disorder حسب Curtis R. Coughlin, Gunter Scharer, Marisa W. Friederich, Hung‐Chun Yu, Elizabeth A. Geiger, Geralyn Creadon‐Swindell, Abigail E. Collins, Arnaud Vanlander, Rudy Van Coster, Christopher A. Powell, Michael A. Swanson, Michal Minczuk, Johan L.K. Van Hove, Tamim H. Shaikh

    منشور في 2015
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    Artigo
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  8. 8
    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency

    Clinical, biochemical, and genetic spectrum of seven patients with NFU1 deficiency حسب Uwe Ahting, Johannes A. Mayr, Arnaud Vanlander, Steven Hardy, Saikat Santra, Christine Makowski, Charlotte L. Alston, Franz Zimmermann, Lucia Abela, Barbara Plecko, Marianne Rohrbach, Stephanie Spranger, Sara Seneca, Boris Rolinski, Angela Hagendorff, Maja Hempel, Wolfgang Sperl, Thomas Meitinger, Joél Smet, Robert W. Taylor, Rudy Van Coster, Peter Freisinger, Holger Prokisch, Tobias B. Haack

    منشور في 2015
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    Artigo
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  9. 9
    Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA)

    Shortcutting the diagnostic odyssey: the multidisciplinary Program for Undiagnosed Rare Diseases in adults (UD-PrOZA) حسب Nika Schuermans, Dimitri Hemelsoet, Wim Terryn, Sanne Steyaert, Rudy Van Coster, Paul Coucke, Wouter Steyaert, Bert Callewaert, Elke Bogaert, Patrick Verloo, Arnaud Vanlander, Elke Debackere, Jody Ghijsels, Pontus LeBlanc, Hannah Verdin, Leslie Naesens, Filomeen Haerynck, Steven Callens, Bart Dermaut, Bruce Poppe, Jan De Bleecker, Patrick Santens, Paul Boon, Guy Laureys, Tessa Kerre

    منشور في 2022
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  10. 10
    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype

    Biallelic Mutations in TMEM126B Cause Severe Complex I Deficiency with a Variable Clinical Phenotype حسب Charlotte L. Alston, Alison G. Compton, Luke E. Formosa, Valentina Strecker, Monika Oláhová, Tobias B. Haack, Joél Smet, Katrien Stouffs, Peter Diakumis, Elżbieta Ciara, David Cassiman, Nadine Romain, John W. Yarham, Langping He, Boél De Paepe, Arnaud Vanlander, Sara Seneca, René G. Feichtinger, Rafał Płoski, Dariusz Rokicki, Ewa Pronicka, Ronald G. Haller, Johan L.K. Van Hove, Melanie Bahlo, Johannes A. Mayr, Rudy Van Coster, Holger Prokisch, Ilka Wittig, Michael T. Ryan, David R. Thorburn, Robert W. Taylor

    منشور في 2016
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  11. 11
    Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy

    Mutations in GTPBP3 Cause a Mitochondrial Translation Defect Associated with Hypertrophic Cardiomyopathy, Lactic Acidosis, and Encephalopathy حسب Robert Kopajtich, Thomas J. Nicholls, Joanna Rorbach, Metodi D. Metodiev, Peter Freisinger, Hanna Mandel, Arnaud Vanlander, Daniele Ghezzi, Rosalba Carrozzo, Robert W. Taylor, Klaus Marquard, Kei Murayama, Thomas Wieland, Thomas Schwarzmayr, Johannes A. Mayr, Sarah F. Pearce, Christopher A. Powell, Ann Saada, Akira Ohtake, Federica Invernizzi, Eleonora Lamantea, Ewen W. Sommerville, Angela Pyle, Patrick F. Chinnery, Ellen Crushell, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Zahra Assouline, Marlène Rio, François Feillet, B. Mousson de Camaret, Dominique Chrétien, Arnold Münnich, Björn Menten, Tom Sante, Joél Smet, Luc Régal, Abraham Lorber, Asaad Khoury, Massimo Zeviani, Tim M. Strom, Thomas Meitinger, Enrico Bertini, Rudy Van Coster, Thomas Klopstock, Agnès Rötig, Tobias B. Haack, Michal Minczuk, Holger Prokisch

    منشور في 2014
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    Artigo
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  12. 12
    Clinical implementation of RNA sequencing for Mendelian disease diagnostics

    Clinical implementation of RNA sequencing for Mendelian disease diagnostics حسب 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

    منشور في 2022
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