Canlyniadau Chwilio - Distelmaier, Felix

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

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Mitochondrial Disorders gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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 gan 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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