Výsledky vyhledávání - Delahodde, Agnès
- Zobrazuji výsledky 1 - 20 z 20
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Caenorhabditis elegans expressing the Saccharomyces cerevisiae NADH alternative dehydrogenase Ndi1p, as a tool to identify new genes involved in complex I related diseases Autor Cossard, Raynald, Esposito, Michela, Sellem, Carole H., Pitayu, Laras, Vasnier, Christelle, Delahodde, Agnès, Dassa, Emmanuel P.
Vydáno 2015Text -
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Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1–dependent process Autor Chen, Yanfang, Leboutet, Romane, Largeau, Céline, Zentout, Siham, Lefebvre, Christophe, Delahodde, Agnès, Culetto, Emmanuel, Legouis, Renaud
Vydáno 2021Text -
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Dissection of the Carboxyl-Terminal Domain of the Proteasomal Subunit Rpn11 in Maintenance of Mitochondrial Structure and Function Autor Rinaldi, Teresa, Hofmann, Line, Gambadoro, Alessia, Cossard, Raynald, Livnat-Levanon, Nurit, Glickman, Michael H., Frontali, Laura, Delahodde, Agnès
Vydáno 2008Text -
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A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations Autor di Punzio, Giulia, Di Noia, Maria Antonietta, Delahodde, Agnès, Sellem, Carole, Donnini, Claudia, Palmieri, Luigi, Lodi, Tiziana, Dallabona, Cristina
Vydáno 2021Text -
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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders Autor Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Vydáno 2007Text -
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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures Autor Mollet, Julie, Delahodde, Agnès, Serre, Valérie, Chretien, Dominique, Schlemmer, Dimitri, Lombes, Anne, Boddaert, Nathalie, Desguerre, Isabelle, de Lonlay, Pascale, Ogier de Baulny, Hélène, Munnich, Arnold, Rötig, Agnès
Vydáno 2008Text -
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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia Autor Mehawej, Cybel, Delahodde, Agnès, Legeai-Mallet, Laurence, Delague, Valérie, Kaci, Nabil, Desvignes, Jean-Pierre, Kibar, Zoha, Capo-Chichi, José-Mario, Chouery, Eliane, Munnich, Arnold, Cormier-Daire, Valérie, Mégarbané, André
Vydáno 2014Text -
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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase Autor Soreze, Yohan, Boutron, Audrey, Habarou, Florence, Barnerias, Christine, Nonnenmacher, Luc, Delpech, Hélène, Mamoune, Asmaa, Chrétien, Dominique, Hubert, Laurence, Bole-Feysot, Christine, Nitschke, Patrick, Correia, Isabelle, Sardet, Claude, Boddaert, Nathalie, Hamel, Yamina, Delahodde, Agnès, Ottolenghi, Chris, de Lonlay, Pascale
Vydáno 2013Text -
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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies Autor Lasserre, Jean-Paul, Dautant, Alain, Aiyar, Raeka S., Kucharczyk, Roza, Glatigny, Annie, Tribouillard-Tanvier, Déborah, Rytka, Joanna, Blondel, Marc, Skoczen, Natalia, Reynier, Pascal, Pitayu, Laras, Rötig, Agnès, Delahodde, Agnès, Steinmetz, Lars M., Dujardin, Geneviève, Procaccio, Vincent, di Rago, Jean-Paul
Vydáno 2015Text -
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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish Autor Facchinello, Nicola, Laquatra, Claudio, Locatello, Lisa, Beffagna, Giorgia, Brañas Casas, Raquel, Fornetto, Chiara, Dinarello, Alberto, Martorano, Laura, Vettori, Andrea, Risato, Giovanni, Celeghin, Rudy, Meneghetti, Giacomo, Santoro, Massimo Mattia, Delahodde, Agnes, Vanzi, Francesco, Rasola, Andrea, Dalla Valle, Luisa, Rasotto, Maria Berica, Lodi, Tiziana, Baruffini, Enrico, Argenton, Francesco, Tiso, Natascia
Vydáno 2021Text -
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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases Autor Paul, Antoine, Drecourt, Anthony, Petit, Floriane, Deguine, Delphine Dupin, Vasnier, Christelle, Oufadem, Myriam, Masson, Cécile, Bonnet, Crystel, Masmoudi, Saber, Mosnier, Isabelle, Mahieu, Laurence, Bouccara, Didier, Kaplan, Josseline, Challe, Georges, Domange, Christelle, Mochel, Fanny, Sterkers, Olivier, Gerber, Sylvie, Nitschke, Patrick, Bole-Feysot, Christine, Jonard, Laurence, Gherbi, Souad, Mercati, Oriane, Ben Aissa, Ines, Lyonnet, Stanislas, Rötig, Agnès, Delahodde, Agnès, Marlin, Sandrine
Vydáno 2017Text -
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy Autor Guimier, Anne, Gordon, Christopher T., Godard, François, Ravenscroft, Gianina, Oufadem, Myriam, Vasnier, Christelle, Rambaud, Caroline, Nitschke, Patrick, Bole-Feysot, Christine, Masson, Cécile, Dauger, Stéphane, Longman, Cheryl, Laing, Nigel G., Kugener, Béatrice, Bonnet, Damien, Bouvagnet, Patrice, Di Filippo, Sylvie, Probst, Vincent, Redon, Richard, Charron, Philippe, Rötig, Agnès, Lyonnet, Stanislas, Dautant, Alain, de Pontual, Loïc, di Rago, Jean-Paul, Delahodde, Agnès, Amiel, Jeanne
Vydáno 2016Text -
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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease Autor Thompson, Kyle, Bianchi, Lucas, Rastelli, Francesca, Piron-Prunier, Florence, Ayciriex, Sophie, Besmond, Claude, Hubert, Laurence, Barth, Magalie, Barbosa, Inês A., Deshpande, Charu, Chitre, Manali, Mehta, Sarju G., Wever, Eric J.M., Marcorelles, Pascale, Donkervoort, Sandra, Saade, Dimah, Bönnemann, Carsten G., Chao, Katherine R., Cai, Chunyu, Iannaccone, Susan T., Dean, Andrew F., McFarland, Robert, Vaz, Frédéric M., Delahodde, Agnès, Taylor, Robert W., Rötig, Agnès
Vydáno 2022Text -
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy Autor Habarou, Florence, Hamel, Yamina, Haack, Tobias B., Feichtinger, René G., Lebigot, Elise, Marquardt, Iris, Busiah, Kanetee, Laroche, Cécile, Madrange, Marine, Grisel, Coraline, Pontoizeau, Clément, Eisermann, Monika, Boutron, Audrey, Chrétien, Dominique, Chadefaux-Vekemans, Bernadette, Barouki, Robert, Bole-Feysot, Christine, Nitschke, Patrick, Goudin, Nicolas, Boddaert, Nathalie, Nemazanyy, Ivan, Delahodde, Agnès, Kölker, Stefan, Rodenburg, Richard J., Korenke, G. Christoph, Meitinger, Thomas, Strom, Tim M., Prokisch, Holger, Rotig, Agnes, Ottolenghi, Chris, Mayr, Johannes A., de Lonlay, Pascale
Vydáno 2017Text -
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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans Autor Collier, Jack J., Guissart, Claire, Oláhová, Monika, Sasorith, Souphatta, Piron-Prunier, Florence, Suomi, Fumi, Zhang, David, Martinez-Lopez, Nuria, Leboucq, Nicolas, Bahr, Angela, Azzarello-Burri, Silvia, Reich, Selina, Schöls, Ludger, Polvikoski, Tuomo M., Meyer, Pierre, Larrieu, Lise, Schaefer, Andrew M., Alsaif, Hessa S., Alyamani, Suad, Zuchner, Stephan, Barbosa, Inês A., Deshpande, Charu, Pyle, Angela, Rauch, Anita, Synofzik, Matthis, Alkuraya, Fowzan S., Rivier, François, Ryten, Mina, McFarland, Robert, Delahodde, Agnès, McWilliams, Thomas G., Koenig, Michel, Taylor, Robert W.
Vydáno 2021Text -
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy Autor Ait-El-Mkadem, Samira, Dayem-Quere, Manal, Gusic, Mirjana, Chaussenot, Annabelle, Bannwarth, Sylvie, François, Bérengère, Genin, Emmanuelle C., Fragaki, Konstantina, Volker-Touw, Catharina L.M., Vasnier, Christelle, Serre, Valérie, van Gassen, Koen L.I., Lespinasse, Françoise, Richter, Susan, Eisenhofer, Graeme, Rouzier, Cécile, Mochel, Fanny, De Saint-Martin, Anne, Abi Warde, Marie-Thérèse, de Sain-van der Velde, Monique G.M., Jans, Judith J.M., Amiel, Jeanne, Avsec, Ziga, Mertes, Christian, Haack, Tobias B., Strom, Tim, Meitinger, Thomas, Bonnen, Penelope E., Taylor, Robert W., Gagneur, Julien, van Hasselt, Peter M., Rötig, Agnès, Delahodde, Agnès, Prokisch, Holger, Fuchs, Sabine A., Paquis-Flucklinger, Véronique
Vydáno 2017Text