検索結果 - Distelmaier, Felix

OXPHOS mutations and neurodegeneration 著者: Koopman, Werner J H, Distelmaier, Felix, Smeitink, Jan AM, Willems, Peter HGM

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Mitochondrial Disorders 著者: Klopstock, Thomas, Priglinger, Claudia, Yilmaz, Ali, Kornblum, Cornelia, Distelmaier, Felix, Prokisch, Holger

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Challenges of palliative care in children with inborn metabolic diseases 著者: Hoell, Jessica I., Warfsmann, Jens, Distelmaier, Felix, Borkhardt, Arndt, Janßen, Gisela, Kuhlen, Michaela

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4‐Hydroxybenzoic acid restores CoQ(10) biosynthesis in human COQ2 deficiency 著者: Herebian, Diran, Seibt, Annette, Smits, Sander H. J., Rodenburg, Richard J., Mayatepek, Ertan, Distelmaier, Felix

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Biotin-Responsive Basal Ganglia Disease: A Treatable Differential Diagnosis of Leigh Syndrome 著者: Distelmaier, Felix, Huppke, Peter, Pieperhoff, Peter, Amunts, Katrin, Schaper, Jörg, Morava, Eva, Mayatepek, Ertan, Kohlhase, Jürgen, Karenfort, Michael

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The antioxidant Trolox restores mitochondrial membrane potential and Ca(2+)-stimulated ATP production in human complex I deficiency 著者: Distelmaier, Felix, Visch, Henk-Jan, Smeitink, Jan A. M., Mayatepek, Ertan, Koopman, Werner J. H., Willems, Peter H. G. M.

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Correction to: The antioxidant Trolox restores mitochondrial membrane potential and Ca(2+)-stimulated ATP production in human complex I deficiency 著者: Distelmaier, Felix, Visch, Henk-Jan, Smeitink, Jan A. M., Mayatepek, Ertan, Koopman, Werner J. H., Willems, Peter H. G. M.

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Mesenchymal stem cells improve redox homeostasis and mitochondrial respiration in fibroblast cell lines with pathogenic MT-ND3 and MT-ND6 variants 著者: Navaratnarajah, Tharsini, Bellmann, Marlen, Seibt, Annette, Anand, Ruchika, Degistirici, Özer, Meisel, Roland, Mayatepek, Ertan, Reichert, Andreas, Baertling, Fabian, Distelmaier, Felix

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

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Neuroligin-mediated neurodevelopmental defects are induced by mitochondrial dysfunction and prevented by lutein in C. elegans 著者: Maglioni, Silvia, Schiavi, Alfonso, Melcher, Marlen, Brinkmann, Vanessa, Luo, Zhongrui, Laromaine, Anna, Raimundo, Nuno, Meyer, Joel N., Distelmaier, Felix, Ventura, Natascia

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Biallelic mutations in PIGP cause developmental and epileptic encephalopathy 著者: Krenn, Martin, Knaus, Alexej, Westphal, Dominik S., Wortmann, Saskia B., Polster, Tilman, Woermann, Friedrich G., Karenfort, Michael, Mayatepek, Ertan, Meitinger, Thomas, Wagner, Matias, Distelmaier, Felix

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Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities 著者: Herebian, Diran, Alhaddad, Bader, Seibt, Annette, Schwarzmayr, Thomas, Danhauser, Katharina, Klee, Dirk, Harmsen, Stefani, Meitinger, Thomas, Strom, Tim M, Schulz, Ansgar, Mayatepek, Ertan, Haack, Tobias B, Distelmaier, Felix

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Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells 著者: Melcher, Marlen, Danhauser, Katharina, Seibt, Annette, Degistirici, Özer, Baertling, Fabian, Kondadi, Arun Kumar, Reichert, Andreas S., Koopman, Werner J. H., Willems, Peter H. G. M., Rodenburg, Richard J., Mayatepek, Ertan, Meisel, Roland, Distelmaier, Felix

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Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID 著者: Redler, Silke, Strom, Tim M, Wieland, Thomas, Cremer, Kirsten, Engels, Hartmut, Distelmaier, Felix, Schaper, Jörg, Küchler, Alma, Lemke, Johannes R, Jeschke, Stephanie, Schreyer, Nicole, Sticht, Heinrich, Koch, Margarete, Lüdecke, Hermann-Josef, Wieczorek, Dagmar

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

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

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

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

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

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Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration 著者: Stendel, Claudia, Neuhofer, Christiane, Floride, Elisa, Yuqing, Shi, Ganetzky, Rebecca D., Park, Joohyun, Freisinger, Peter, Kornblum, Cornelia, Kleinle, Stephanie, Schöls, Ludger, Distelmaier, Felix, Stettner, Georg M., Büchner, Boriana, Falk, Marni J., Mayr, Johannes A., Synofzik, Matthis, Abicht, Angela, Haack, Tobias B., Prokisch, Holger, Wortmann, Saskia B., Murayama, Kei, Fang, Fang, Klopstock, Thomas

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