खोज परिणाम - Felix Distelmaier

परिणाम को परिष्कृत करें
  1. 1
    Biotin Treatment Mimicking Graves’ Disease

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

    प्रकाशित 2016
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    Carta
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  2. 2
    Mitochondrial disorders

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

    प्रकाशित 2021
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    Revisão
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  3. 3
    OXPHOS mutations and neurodegeneration

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

    प्रकाशित 2012
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    Revisão
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  4. 4
    Treatable mitochondrial diseases: cofactor metabolism and beyond

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

    प्रकाशित 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 द्वारा Felix Distelmaier, Gabriele Calaminus, D. Harms, Ronald Sträter, Uwe Kordes, Gudrun Fleischhack, U. Göbel, Dominik T. Schneider

    प्रकाशित 2006
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    Artigo
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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 द्वारा Tobias B. Haack, Dirk Klee, Tim M. Strom, Ertan Mayatepek, Thomas Meitinger, Holger Prokisch, Felix Distelmaier

    प्रकाशित 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 द्वारा Felix Distelmaier, Henk-Jan Visch, Jan Smeitink, Ertan Mayatepek, Werner J.H. Koopman, Peter H.G.M. Willems

    प्रकाशित 2009
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    Artigo
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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 द्वारा Michael Hoffmann, Nadège Bellancé, Rodrigue Rossignol, Werner J.H. Koopman, Peter H.G.M. Willems, Ertan Mayatepek, Olaf Bossinger, Felix Distelmaier

    प्रकाशित 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 द्वारा Katharina Danhauser, Diran Herebıan, Tobias B. Haack, Richard J. Rodenburg, Tim M. Strom, Thomas Meitinger, Dirk Klee, Ertan Mayatepek, Holger Prokisch, Felix Distelmaier

    प्रकाशित 2015
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    Artigo
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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 द्वारा Marius Ringelstein, Jens Harmel, Felix Distelmaier, Jens Ingwersen, Til Menge, Kerstin Hellwig, B. C. Kieseier, Ertan Mayatepek, HP Hartung, Tania Kuempfel, Orhan Aktaş

    प्रकाशित 2013
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    Artigo
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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 द्वारा Felix Distelmaier, Werner J.H. Koopman, Lambertus P. van den Heuvel, Richard J. Rodenburg, Ertan Mayatepek, Peter H.G.M. Willems, Jan Smeitink

    प्रकाशित 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 द्वारा 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

    प्रकाशित 2012
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    Artigo
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  13. 13
    Human Golgi Antiapoptotic Protein Modulates Intracellular Calcium Fluxes

    Human Golgi Antiapoptotic Protein Modulates Intracellular Calcium Fluxes द्वारा 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

    प्रकाशित 2009
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    Artigo
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  14. 14
    NDUFA2 Complex I Mutation Leads to Leigh Disease

    NDUFA2 Complex I Mutation Leads to Leigh Disease द्वारा 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

    प्रकाशित 2008
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    Artigo
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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 द्वारा 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

    प्रकाशित 2016
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    Artigo
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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 द्वारा 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

    प्रकाशित 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 द्वारा 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

    प्रकाशित 2014
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    Artigo
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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 द्वारा 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

    प्रकाशित 2016
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    Artigo
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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 द्वारा 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

    प्रकाशित 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 द्वारा 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

    प्रकाशित 2016
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