検索結果 - Felix Distelmaier

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  1. 1
    Biotin Treatment Mimicking Graves’ Disease

    Biotin Treatment Mimicking Graves’ Disease 著者: Sebastian Kummer, Derik Hermsen, Felix Distelmaier

    出版事項 2016
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  2. 2
    Mitochondrial disorders

    Mitochondrial disorders 著者: Thomas Klopstock, Claudia Priglinger, Ali Yılmaz, Cornelia Kornblum, Felix Distelmaier, Holger Prokisch

    出版事項 2021
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  3. 3
    OXPHOS mutations and neurodegeneration

    OXPHOS mutations and neurodegeneration 著者: Werner J.H. Koopman, Felix Distelmaier, Jan Smeitink, Peter H.G.M. Willems

    出版事項 2012
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  4. 4
    Treatable mitochondrial diseases: cofactor metabolism and beyond

    Treatable mitochondrial diseases: cofactor metabolism and beyond 著者: Felix Distelmaier, Tobias B. Haack, Saskia B. Wortmann, Johannes A. Mayr, Holger Prokisch

    出版事項 2016
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  5. 5
    Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents

    Ovarian small cell carcinoma of the hypercalcemic type in children and adolescents 著者: Felix Distelmaier, Gabriele Calaminus, D. Harms, Ronald Sträter, Uwe Kordes, Gudrun Fleischhack, U. Göbel, Dominik T. Schneider

    出版事項 2006
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  6. 6
    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease

    Infantile Leigh-like syndrome caused by SLC19A3 mutations is a treatable disease 著者: Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    出版事項 2014
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  7. 7
    The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency

    The antioxidant Trolox restores mitochondrial membrane potential and Ca2+-stimulated ATP production in human complex I deficiency 著者: Felix Distelmaier, Henk-Jan Visch, Jan Smeitink, Ertan Mayatepek, Werner J.H. Koopman, Peter H.G.M. Willems

    出版事項 2009
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  8. 8
    C. elegans ATAD-3 Is Essential for Mitochondrial Activity and Development

    C. elegans ATAD-3 Is Essential for Mitochondrial Activity and Development 著者: Michael Hoffmann, Nadège Bellancé, Rodrigue Rossignol, Werner J.H. Koopman, Peter H.G.M. Willems, Ertan Mayatepek, Olaf Bossinger, Felix Distelmaier

    出版事項 2009
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  9. 9
    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9

    Fatal neonatal encephalopathy and lactic acidosis caused by a homozygous loss-of-function variant in COQ9 著者: Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

    出版事項 2015
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  10. 10
    Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum

    Neuromyelitis optica and pregnancy during therapeutic B cell depletion: infant exposure to anti-AQP4 antibody and prevention of rebound relapses with low-dose rituximab postpartum 著者: Marius Ringelstein, Jens Harmel, Felix Distelmaier, Jens Ingwersen, Til Menge, Kerstin Hellwig, B. C. Kieseier, Ertan Mayatepek, HP Hartung, Tania Kuempfel, Orhan Aktaş

    出版事項 2013
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  11. 11
    Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease

    Mitochondrial complex I deficiency: from organelle dysfunction to clinical disease 著者: Felix Distelmaier, Werner J.H. Koopman, Lambertus P. van den Heuvel, Richard J. Rodenburg, Ertan Mayatepek, Peter H.G.M. Willems, Jan Smeitink

    出版事項 2008
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  12. 12
    Trolox-Sensitive Reactive Oxygen Species Regulate Mitochondrial Morphology, Oxidative Phosphorylation and Cytosolic Calcium Handling in Healthy Cells

    Trolox-Sensitive Reactive Oxygen Species Regulate Mitochondrial Morphology, Oxidative Phosphorylation and Cytosolic Calcium Handling in Healthy Cells 著者: Felix Distelmaier, Federica Valsecchi, Marleen Forkink, Sjenet van Emst‐de Vries, Herman G.P. Swarts, Richard J. Rodenburg, Eugène T.P. Verwiel, Jan Smeitink, Peter H.G.M. Willems, Werner J.H. Koopman

    出版事項 2012
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  13. 13
    Human Golgi Antiapoptotic Protein Modulates Intracellular Calcium Fluxes

    Human Golgi Antiapoptotic Protein Modulates Intracellular Calcium Fluxes 著者: Fabrizio De Mattia, Caroline Gubser Keller, Michiel M.T. van Dommelen, Henk-Jan Visch, Felix Distelmaier, Antonio Postigo, Tomas Luyten, Jan B. Parys, Humbert De Smedt, Geoffey L. Smith, Peter H.G.M. Willems, Frank J. M. van Kuppeveld

    出版事項 2009
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  14. 14
    NDUFA2 Complex I Mutation Leads to Leigh Disease

    NDUFA2 Complex I Mutation Leads to Leigh Disease 著者: Saskia J.G. Hoefs, Cindy E. Dieteren, Felix Distelmaier, Rolf J. R. J. Janssen, Andrea Epplen, Herman G.P. Swarts, Marleen Forkink, Richard J. Rodenburg, Leo Nijtmans, Peter H.G.M. Willems, Jan Smeitink, Lambert P. van den Heuvel

    出版事項 2008
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  15. 15
    CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome

    CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome 著者: Marta Luna‐Sánchez, Agustín Hidalgo‐Gutiérrez, Tatjana M. Hildebrandt, Julio Chaves‐Serrano, Eliana Barriocanal‐Casado, A. Santos-Fandila, Miguel Romero, Ramy K. A. Sayed, Juan Duarte, Holger Prokisch, Markus Schuelke, Felix Distelmaier, Germaine Escames, Darío Acuña‐Castroviejo, Luís C. López

    出版事項 2016
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  16. 16
    Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration

    Human thioredoxin 2 deficiency impairs mitochondrial redox homeostasis and causes early-onset neurodegeneration 著者: Eliška Holzerová, Katharina Danhauser, Tobias B. Haack, Laura S. Kremer, Marlen Melcher, Irina Ingold, Sho Kobayashi, Caterina Terrile, P.G.L. Wolf, Jörg Schaper, Ertan Mayatepek, Fabian Baertling, José Pedro Friedmann Angeli, Marcus Conrad, Tim M. Strom, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    出版事項 2015
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  17. 17
    Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α

    Mitochondrial dysfunction in primary human fibroblasts triggers an adaptive cell survival program that requires AMPK-α 著者: Felix Distelmaier, Federica Valsecchi, Dania C. Liemburg-Apers, Magdalena Lebiedzińska, Richard J. Rodenburg, Sandra G. Heil, Jaap Keijer, Jack Fransen, Hiromi Imamura, Katharina Danhauser, Annette Seibt, Benoı̂t Viollet, Frank N. Gellerich, Jan Smeitink, Mariusz R. Więckowski, Peter H.G.M. Willems, Werner J.H. Koopman

    出版事項 2014
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  18. 18
    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 著者: 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

    出版事項 2016
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  19. 19
    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood

    NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood 著者: Laura S. Kremer, Katharina Danhauser, Diran Herebıan, Danijela Petković Ramadža, Dorota Piekutowska‐Abramczuk, Annette Seibt, Wolfgang Müller‐Felber, Tobias B. Haack, Rafał Płoski, Klaus Lohmeier, Dominik T. Schneider, Dirk Klee, Dariusz Rokicki, Ertan Mayatepek, Tim M. Strom, Thomas Meitinger, Thomas Klopstock, Ewa Pronicka, Johannes A. Mayr, Ivo Barić, Felix Distelmaier, Holger Prokisch

    出版事項 2016
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  20. 20
    <i>CAD</i>mutations and uridine-responsive epileptic encephalopathy

    <i>CAD</i>mutations and uridine-responsive epileptic encephalopathy 著者: 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

    出版事項 2016
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