Risultati della ricerca - Distelmaier, Felix

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

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

Testo Testo Testo

Biallelic mutations in PIGP cause developmental and epileptic encephalopathy di 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

Testo Testo Testo

Coexisting variants in OSTM1 and MANEAL cause a complex neurodegenerative disorder with NBIA-like brain abnormalities di 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

Testo Testo Testo

Modulation of oxidative phosphorylation and redox homeostasis in mitochondrial NDUFS4 deficiency via mesenchymal stem cells di 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

Testo Testo Testo

Variants in CPLX1 in two families with autosomal-recessive severe infantile myoclonic epilepsy and ID di 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

Testo Testo Testo

Trolox-Sensitive Reactive Oxygen Species Regulate Mitochondrial Morphology, Oxidative Phosphorylation and Cytosolic Calcium Handling in Healthy Cells di 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.

Testo Testo Testo

Human Golgi Antiapoptotic Protein Modulates Intracellular Calcium Fluxes di 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.

Testo Testo Testo

CoQ deficiency causes disruption of mitochondrial sulfide oxidation, a new pathomechanism associated with this syndrome di 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

Testo Testo Testo

NDUFA2 Complex I Mutation Leads to Leigh Disease di 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.

Testo Testo Testo

NAXE Mutations Disrupt the Cellular NAD(P)HX Repair System and Cause a Lethal Neurometabolic Disorder of Early Childhood di 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

Testo Testo Testo

Delineating MT-ATP6-associated disease: From isolated neuropathy to early onset neurodegeneration di 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

Testo Testo Testo