Canlyniadau Chwilio - Delahodde, Agnès
- Dangos 1 - 20 canlyniadau o 20
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Integrity of the Saccharomyces cerevisiae Rpn11 Protein Is Critical for Formation of Proteasome Storage Granules (PSG) and Survival in Stationary Phase gan Saunier, Rémy, Esposito, Michela, Dassa, Emmanuel P., Delahodde, Agnès
Cyhoeddwyd 2013Text -
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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 gan Cossard, Raynald, Esposito, Michela, Sellem, Carole H., Pitayu, Laras, Vasnier, Christelle, Delahodde, Agnès, Dassa, Emmanuel P.
Cyhoeddwyd 2015Text -
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Autophagy facilitates mitochondrial rebuilding after acute heat stress via a DRP-1–dependent process gan Chen, Yanfang, Leboutet, Romane, Largeau, Céline, Zentout, Siham, Lefebvre, Christophe, Delahodde, Agnès, Culetto, Emmanuel, Legouis, Renaud
Cyhoeddwyd 2021Text -
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Dissection of the Carboxyl-Terminal Domain of the Proteasomal Subunit Rpn11 in Maintenance of Mitochondrial Structure and Function gan Rinaldi, Teresa, Hofmann, Line, Gambadoro, Alessia, Cossard, Raynald, Livnat-Levanon, Nurit, Glickman, Michael H., Frontali, Laura, Delahodde, Agnès
Cyhoeddwyd 2008Text -
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A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations gan di Punzio, Giulia, Di Noia, Maria Antonietta, Delahodde, Agnès, Sellem, Carole, Donnini, Claudia, Palmieri, Luigi, Lodi, Tiziana, Dallabona, Cristina
Cyhoeddwyd 2021Text -
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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders gan Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Cyhoeddwyd 2007Text -
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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures gan 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
Cyhoeddwyd 2008Text -
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The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia gan 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
Cyhoeddwyd 2014Text -
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Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase gan 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
Cyhoeddwyd 2013Text -
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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies gan 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
Cyhoeddwyd 2015Text -
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Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish gan 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
Cyhoeddwyd 2021Text -
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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases gan 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
Cyhoeddwyd 2017Text -
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy gan 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
Cyhoeddwyd 2016Text -
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Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease gan 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
Cyhoeddwyd 2022Text -
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy gan 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
Cyhoeddwyd 2017Text -
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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans gan 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.
Cyhoeddwyd 2021Text -
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy gan 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
Cyhoeddwyd 2017Text