Rezultati - Delahodde, Agnès
- Showing 1 - 20 results of 20
-
1
-
2
-
3
-
4
-
5
Caenorhabditis elegans expressing the Saccharomyces cerevisiae NADH alternative dehydrogenase Ndi1p, as a tool to identify new genes involved in complex I related diseases od Cossard, Raynald, Esposito, Michela, Sellem, Carole H., Pitayu, Laras, Vasnier, Christelle, Delahodde, Agnès, Dassa, Emmanuel P.
Izdano 2015Text -
6
-
7
Dissection of the Carboxyl-Terminal Domain of the Proteasomal Subunit Rpn11 in Maintenance of Mitochondrial Structure and Function od Rinaldi, Teresa, Hofmann, Line, Gambadoro, Alessia, Cossard, Raynald, Livnat-Levanon, Nurit, Glickman, Michael H., Frontali, Laura, Delahodde, Agnès
Izdano 2008Text -
8
A Yeast-Based Screening Unravels Potential Therapeutic Molecules for Mitochondrial Diseases Associated with Dominant ANT1 Mutations od di Punzio, Giulia, Di Noia, Maria Antonietta, Delahodde, Agnès, Sellem, Carole, Donnini, Claudia, Palmieri, Luigi, Lodi, Tiziana, Dallabona, Cristina
Izdano 2021Text -
9
Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders od Mollet, Julie, Giurgea, Irina, Schlemmer, Dimitri, Dallner, Gustav, Chretien, Dominique, Delahodde, Agnès, Bacq, Delphine, de Lonlay, Pascale, Munnich, Arnold, Rötig, Agnès
Izdano 2007Text -
10
CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures od 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
Izdano 2008Text -
11
The Impairment of MAGMAS Function in Human Is Responsible for a Severe Skeletal Dysplasia od 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
Izdano 2014Text -
12
Mutations in human lipoyltransferase gene LIPT1 cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase od 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
Izdano 2013Text -
13
Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies od 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
Izdano 2015Text -
14
Efficient clofilium tosylate-mediated rescue of POLG-related disease phenotypes in zebrafish od 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
Izdano 2021Text -
15
FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases od 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
Izdano 2017Text -
16
Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy od 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
Izdano 2016Text -
17
Biallelic variants in TAMM41 are associated with low muscle cardiolipin levels, leading to neonatal mitochondrial disease od 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
Izdano 2022Text -
18
Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy od 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
Izdano 2017Text -
19
Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans od 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.
Izdano 2021Text -
20
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy od 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
Izdano 2017Text