Ngā hua rapu - Distelmaier, Felix

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

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Mitochondrial Disorders mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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 mā 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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