檢索結果 - Jean‐Marc Nuoffer
- Showing 1 - 14 results of 14
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A variant in<i>MRPS14</i>(uS14m) causes perinatal hypertrophic cardiomyopathy with neonatal lactic acidosis, growth retardation, dysmorphic features and neurological involvement 由 Christopher B. Jackson, Martina Huemer, Ramona Bolognini, Franck Martin, Gabor Szinnai, Birgit Donner, Uwe Richter, Brendan J. Battersby, Jean‐Marc Nuoffer, Anu Suomalainen, André Schaller
出版 2018Artigo -
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Exercise Attenuates the Transition from Fatty Liver to Steatohepatitis and Reduces Tumor Formation in Mice 由 Maria Guarino, Pavitra Kumar, Andrea Felser, Luigi Terracciano, Sergi Guixé‐Muntet, Bostjan Humar, Michelangelo Foti, Jean‐Marc Nuoffer, Marie V. St‐Pierre, Jean‐François Dufour
出版 2020Artigo -
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Neutrophil extracellular trap formation requires OPA1-dependent glycolytic ATP production 由 Poorya Amini, Darko Stojkov, Andrea Felser, Christopher B. Jackson, Carolina Courage, André Schaller, Laurent Gelman, María Eugenia Soriano, Jean‐Marc Nuoffer, Luca Scorrano, Charaf Benarafa, Shída Yousefi, Hans‐Uwe Simon
出版 2018Artigo -
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PPAR-γ regulates the effector function of human T helper 9 cells by promoting glycolysis 由 Nicole Bertschi, Oliver Steck, Fabian Luther, Cecilia Bazzini, Leonhard von Meyenn, Stefanie Schärli, Angela Vallone, Andrea Felser, Irene Keller, Olivier Friedli, Stefan Freigang, Nadja Begré, Susanne Radonjic‐Hoesli, Cristina Lamos, Max Philip Gabutti, Michael Benzaquen, Markus Laimer, Dagmar Simon, Jean‐Marc Nuoffer, Christoph Schlapbach
出版 2023Artigo -
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Targeting lactate dehydrogenase B-dependent mitochondrial metabolism affects tumor initiating cells and inhibits tumorigenesis of non-small cell lung cancer by inducing mtDNA damag... 由 Haibin Deng, Yanyun Gao, Verdiana Trappetti, Damian Hertig, Darya Karatkevich, Tereza Losmanová, Christian Urzì, Huixiang Ge, Gerrit Adriaan Geest, Rémy Bruggmann, Valentin Djonov, Jean‐Marc Nuoffer, Peter Vermathen, Nicola Zamboni, Carsten Riether, Adrian F. Ochsenbein, Ren‐Wang Peng, Gregor J. Kocher, Ralph A. Schmid, Patrick Dorn, Thomas M. Marti
出版 2022Artigo -
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Cross‐sectional observational study of 208 patients with non‐classical urea cycle disorders 由 Corinne M. Rüegger, Martin Lindner, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Anibh M. Das, Matthias Gautschi, Esther M. Glahn, Sarah C. Grünert, Julia B. Hennermann, Michel Hochuli, Martina Huemer, Daniela Karall, Stefan Kölker, Robin Lachmann, Amelie S. Lotz‐Havla, Dorothea Möslinger, Jean‐Marc Nuoffer, Barbara Plecko, Frank Rutsch, René Santer, Ute Spiekerkoetter, Christian Staufner, Tamar Stricker, Frits A. Wijburg, Monique Williams, Peter Burgard, Johannes Häberle
出版 2013Artigo -
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Deficiency in SLC25A1, Encoding the Mitochondrial Citrate Carrier, Causes Combined D-2- and L-2-Hydroxyglutaric Aciduria 由 Benjamin Nota, Eduard A. Struys, Ana Pop, Erwin E. W. Jansen, Matilde R. Fernandez Ojeda, Warsha A. Kanhai, Martijn Kranendijk, Silvy J.M. van Dooren, Marianna R. Bevova, Erik A. Sistermans, Aggie Nieuwint, Magalie Barth, Tawfeg Ben‐Omran, Georg F. Hoffmann, Pascale de Lonlay, Marie McDonald, Alf Meberg, Ania C. Muntau, Jean‐Marc Nuoffer, Rossella Parini, Marie‐Hélène Read, Axel Renneberg, René Santer, Thomas Strahleck, Emile Van Schaftingen, Marjo S. van der Knaap, Cornelis Jakobs, Gajja S. Salomons
出版 2013Artigo -
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Recommendations for diagnosing and managing individuals with glutaric aciduria type 1: Third revision 由 Nikolas Boy, Chris Mühlhausen, Esther M. Maier, Diana Ballhausen, Matthias R. Baumgartner, Skadi Beblo, Peter Burgard, Kimberly A. Chapman, Dries Dobbelaere, Jana Heringer‐Seifert, Sandra Fleissner, Karina Grohmann‐Held, Gabriele Hahn, Inga Harting, Georg F. Hoffmann, Frank Jochum, Daniela Karall, Vassiliki Konstantopoulous, Michael Krawinkel, Martin Lindner, E. M. Charlotte Märtner, Jean‐Marc Nuoffer, Jürgen G. Okun, Barbara Plecko, Roland Posset, Katja Sahm, Sabine Scholl‐Bürgi, Eva Thimm, Magdalena Walter, Monique Williams, Stephan vom Dahl, Athanasia Ziagaki, Johannes Zschocke, Stefan Kölker
出版 2022Artigo -
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Deficiency of <scp>ECHS</scp>1 causes mitochondrial encephalopathy with cardiac involvement 由 Tobias B. Haack, Christopher B. Jackson, Kei Murayama, Laura S. Kremer, André Schaller, Urania Kotzaeridou, Maaike C. de Vries, Gudrun Schottmann, Saikat Santra, Boriana Büchner, Thomas Wieland, Elisabeth Graf, Peter Freisinger, Sandra Eggimann, Akira Ohtake, Yasushi Okazaki, Masakazu Kohda, Yoshihito Kishita, Yoshimi Tokuzawa, Sascha Sauer, Yasin Memari, Anja Kolb‐Kokocinski, Richard Durbin, Oswald Hasselmann, Kirsten Cremer, Beate Albrecht, Dagmar Wieczorek, Hartmut Engels, Dagmar Hahn, Alexander M. Zink, Charlotte L. Alston, Robert W. Taylor, Richard J. Rodenburg, Regina Trollmann, Wolfgang Sperl, Tim M. Strom, Georg F. Hoffmann, Johannes A. Mayr, Thomas Meitinger, Ramona Bolognini, Markus Schuelke, Jean‐Marc Nuoffer, Stefan Kölker, Holger Prokisch, Thomas Klopstock
出版 2015Artigo
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