檢索結果 - Gudrun Schottmann

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  1. 1
    Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis

    Bi-Allelic UQCRFS1 Variants Are Associated with Mitochondrial Complex III Deficiency, Cardiomyopathy, and Alopecia Totalis 由 Mirjana Gušić, Gudrun Schottmann, René G. Feichtinger, Chen Du, Caroline Scholz, Matias Wagner, Johannes A. Mayr, Chae-Young Lee, Vicente A. Yépez, Norbert Lorenz, Susanne Morales-Gonzalez, Daan M. Panneman, Agnès Rötig, Richard J. Rodenburg, Saskia B. Wortmann, Holger Prokisch, Markus Schuelke

    出版 2019
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  2. 2
    Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures

    Mutations in Subunits of the Activating Signal Cointegrator 1 Complex Are Associated with Prenatal Spinal Muscular Atrophy and Congenital Bone Fractures 由 Ellen Knierim, Hiromi Hirata, Nicole I. Wolf, Susanne Morales-Gonzalez, Gudrun Schottmann, Yu Tanaka, Sabine Rudnik–Schöneborn, Mickael Orgeur, Klaus Zerres, Stefanie Vogt, Anne van Riesen, Esther Gill, Franziska Seifert, Angelika Zwirner, Janbernd Kirschner, Hans H. Goebel, Christoph Hübner, Sigmar Stricker, David Meierhofer, Werner Stenzel, Markus Schuelke

    出版 2016
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  3. 3
    TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies

    TRMT5 Mutations Cause a Defect in Post-transcriptional Modification of Mitochondrial tRNA Associated with Multiple Respiratory-Chain Deficiencies 由 Christopher A. Powell, Robert Kopajtich, Aaron R. D’Souza, Joanna Rorbach, Laura S. Kremer, Ralf A. Husain, Cristina Dallabona, Claudia Donnini, Charlotte L. Alston, Helen Griffin, Angela Pyle, Patrick F. Chinnery, Tim M. Strom, Thomas Meitinger, Richard J. Rodenburg, Gudrun Schottmann, Markus Schuelke, Nadine Romain, Ronald G. Haller, Ileana Ferrero, Tobias B. Haack, Robert W. Taylor, Holger Prokisch, Michal Minczuk

    出版 2015
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  4. 4
    Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement

    Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement 由 Tobias B. Haack, Christopher B. Jackson, Kei Murayama, Laura S. Kremer, André Schaller, Urania Kotzaeridou, Maaike C. de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner, Thomas Wieland, Elisabeth Graf, Peter Freisinger, Sandra Eggimann, Akira Ohtake, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Sascha Sauer, Yasin Memari, Anja Kolb‐Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M. Zink, Charlotte L. Alston, Robert W. Taylor, Richard J. Rodenburg, Regina Trollmann, Wolfgang Sperl, Tim M. Strom, Georg F. Hoffmann, Johannes A. Mayr, Thomas Meitinger, Ramona Bolognini, Markus Schuelke, Jean‐Marc Nuoffer, Stefan Kölker, Holger Prokisch, Thomas Klopstock

    出版 2015
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  5. 5
    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective?

    Clinical, biochemical and genetic spectrum of 70 patients with ACAD9 deficiency: is riboflavin supplementation effective? 由 Birgit Repp, Elisa Mastantuono, Charlotte L. Alston, Manuel Schiff, Tobias B. Haack, Agnès Rötig, Anna Ardissone, Anne Lombès, Claudia B. Catarino, Daria Diodato, Gudrun Schottmann, Joanna Poulton, Alberto Burlina, An I. Jonckheere, Arnold Münnich, Boris Rolinski, Daniele Ghezzi, Dariusz Rokicki, Diana Wellesley, Diego Martinelli, Wenhong Ding, Eleonora Lamantea, Elsebet Østergaard, Ewa Pronicka, Germaine Pierre, Hubert J.M. Smeets, Ilka Wittig, Ingrid Scurr, I.F.M. de Coo, Isabella Moroni, Joél Smet, Johannes A. Mayr, Lifang Dai, Linda De Meırleır, Markus Schuelke, Massimo Zeviani, Raphael J. Morscher, Robert McFarland, Sara Seneca, Thomas Klopstock, Thomas Meitinger, Thomas Wieland, Tim M. Strom, Ulrike Herberg, Uwe Ahting, Wolfgang Sperl, Marie‐Cécile Nassogne, Han L, Fang Fang, Peter Freisinger, Rudy Van Coster, Valentina Strecker, Robert W. Taylor, Johannes Häberle, Jerry Vockley, Holger Prokisch, Saskia B. Wortmann

    出版 2018
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