Zobrazeno 1 - 10
of 38
pro vyhledávání: '"Klabunde-Cherwon A"'
Autor:
Kalm, Tassja, Schob, Claudia, Völler, Hanna, Gardeitchik, Thatjana, Gilissen, Christian, Pfundt, Rolph, Klöckner, Chiara, Platzer, Konrad, Klabunde-Cherwon, Annick, Ries, Markus, Syrbe, Steffen, Beccaria, Francesca, Madia, Francesca, Scala, Marcello, Zara, Federico, Hofstede, Floris, Simon, Marleen E.H., van Jaarsveld, Richard H., Oegema, Renske, van Gassen, Koen L.I., Holwerda, Sjoerd J.B., Barakat, Tahsin Stefan, Bouman, Arjan, van Slegtenhorst, Marjon, Álvarez, Sara, Fernández-Jaén, Alberto, Porta, Javier, Accogli, Andrea, Mancardi, Margherita Maria, Striano, Pasquale, Iacomino, Michele, Chae, Jong-Hee, Jang, SeSong, Kim, Soo Y., Chitayat, David, Mercimek-Andrews, Saadet, Depienne, Christel, Kampmeier, Antje, Kuechler, Alma, Surowy, Harald, Bertini, Enrico Silvio, Radio, Francesca Clementina, Mancini, Cecilia, Pizzi, Simone, Tartaglia, Marco, Gauthier, Lucas, Genevieve, David, Tharreau, Mylène, Azoulay, Noy, Zaks-Hoffer, Gal, Gilad, Nesia K., Orenstein, Naama, Bernard, Geneviève, Thiffault, Isabelle, Denecke, Jonas, Herget, Theresia, Kortüm, Fanny, Kubisch, Christian, Bähring, Robert, Kindler, Stefan
Publikováno v:
In The American Journal of Human Genetics 6 June 2024 111(6):1206-1221
Autor:
Tessarech, Marine, Friocourt, Gaëlle, Marguet, Florent, Lecointre, Maryline, Le Mao, Morgane, Díaz, Rodrigo Muñoz, Mignot, Cyril, Keren, Boris, Héron, Bénédicte, De Bie, Charlotte, Van Gassen, Koen, Loisel, Didier, Delorme, Benoit, Syrbe, Steffen, Klabunde-Cherwon, Annick, Jamra, Rami Abou, Wegler, Meret, Callewaert, Bert, Dheedene, Annelies, Zidane-Marinnes, Merzouka, Guichet, Agnès, Bris, Céline, Van Bogaert, Patrick, Biquard, Florence, Lenaers, Guy, Marcorelles, Pascale, Ferec, Claude, Gonzalez, Bruno, Procaccio, Vincent, Vitobello, Antonio, Bonneau, Dominique, Laquerriere, Annie, Khiati, Salim, Colin, Estelle
Publikováno v:
In Genetics in Medicine May 2024 26(5)
Akademický článek
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Autor:
Sonnek, Benedikt, Döring, Jan Henje, Mütze, Ulrike, Schubert-Bast, Susanne, Bast, Thomas, Balke, Doreen, Reuner, Gitta, Schuler, Elisabeth, Klabunde-Cherwon, Annick, Hoffmann, Georg F., Kölker, Stefan, Syrbe, Steffen
Publikováno v:
In European Journal of Paediatric Neurology January 2021 30:121-127
Autor:
Bölsterli, Bigna K., Boltshauser, Eugen, Palmieri, Luigi, Spenger, Johannes, Brunner-Krainz, Michaela, Distelmaier, Felix, Freisinger, Peter, Geis, Tobias, Gropman, Andrea L., Häberle, Johannes, Hentschel, Julia, Jeandidier, Bruno, Karall, Daniela, Keren, Boris, Klabunde-Cherwon, Annick, Konstantopoulou, Vassiliki, Kottke, Raimund, Lasorsa, Francesco M., Makowski, Christine, Mignot, Cyril, O'Gorman Tuura, Ruth, Porcelli, Vito, Santer, René, Sen, Kuntal, Steinbrücker, Katja, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Zöggeler, Thomas, Mayr, Johannes A., Prokisch, Holger, Wortmann, Saskia B.
Themitochondrialmalate aspartate shuttle system(MAS)maintains the cytosolicNAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects in f
Externí odkaz:
https://ul.qucosa.de/id/qucosa%3A88529
https://ul.qucosa.de/api/qucosa%3A88529/attachment/ATT-0/
https://ul.qucosa.de/api/qucosa%3A88529/attachment/ATT-0/
Autor:
Bigna K. Bölsterli, Eugen Boltshauser, Luigi Palmieri, Johannes Spenger, Michaela Brunner-Krainz, Felix Distelmaier, Peter Freisinger, Tobias Geis, Andrea L. Gropman, Johannes Häberle, Julia Hentschel, Bruno Jeandidier, Daniela Karall, Boris Keren, Annick Klabunde-Cherwon, Vassiliki Konstantopoulou, Raimund Kottke, Francesco M. Lasorsa, Christine Makowski, Cyril Mignot, Ruth O’Gorman Tuura, Vito Porcelli, René Santer, Kuntal Sen, Katja Steinbrücker, Steffen Syrbe, Matias Wagner, Andreas Ziegler, Thomas Zöggeler, Johannes A. Mayr, Holger Prokisch, Saskia B. Wortmann
Publikováno v:
Nutrients, Vol 14, Iss 17, p 3605 (2022)
The mitochondrial malate aspartate shuttle system (MAS) maintains the cytosolic NAD+/NADH redox balance, thereby sustaining cytosolic redox-dependent pathways, such as glycolysis and serine biosynthesis. Human disease has been associated with defects
Externí odkaz:
https://doaj.org/article/b0f6a6745c114d6e995f41fa35173885
Akademický článek
Tento výsledek nelze pro nepřihlášené uživatele zobrazit.
K zobrazení výsledku je třeba se přihlásit.
K zobrazení výsledku je třeba se přihlásit.
Autor:
Jan H, Döring, Afshin, Saffari, Thomas, Bast, Knut, Brockmann, Laura, Ehrhardt, Walid, Fazeli, Wibke G, Janzarik, Annick, Klabunde-Cherwon, Gerhard, Kluger, Hiltrud, Muhle, Manuela, Pendziwiat, Rikke S, Møller, Konrad, Platzer, Joana Larupa, Santos, Julian, Schröter, Georg F, Hoffmann, Stefan, Kölker, Steffen, Syrbe
Publikováno v:
Neurology. Genetics. 8(5)
Pathogenic variants inA multicenter, retrospective, cross-sectional cohort study was conducted according to the Strengthening the Reporting of Observational Studies in Epidemiology criteria. Inclusion criteria were occurrence of infantile seizures an
Autor:
Ulrike Mütze, Steffen Syrbe, Gitta Reuner, Stefan Kölker, Thomas Bast, Georg F. Hoffmann, Doreen Balke, Susanne Schubert-Bast, Annick Klabunde-Cherwon, Elisabeth Schuler, Jan Henje Döring, Benedikt Sonnek
Publikováno v:
European Journal of Paediatric Neurology. 30:121-127
Objective Continuous spikes and waves during sleep (CSWS) is an epileptic encephalopathy characterized by generalised epileptiform activity and neurocognitive dysfunction. Causes and outcome are diverse and treatment is mainly empirical. Methods Retr
Autor:
Bölsterli, Bigna K, Boltshauser, Eugen, Distelmaier, Felix, Geis, Tobias, Klabunde-Cherwon, Annick, Kottke, Raimund, Makowski, Christine, Mayr, Johannes A, O'Gorman Tuura, Ruth L, Prokisch, Holger, Steinbruecker, Katja, Steinfeld, Robert, Syrbe, Steffen, Wagner, Matias, Ziegler, Andreas, Wortmann, Saskia
Externí odkaz:
https://explore.openaire.eu/search/publication?articleId=od_______885::304ced4e7818350be743162d1f69794d
https://www.zora.uzh.ch/id/eprint/213727/
https://www.zora.uzh.ch/id/eprint/213727/