Search Results - Agnès Delahodde
- Showing 1 - 16 results of 16
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Prenyldiphosphate synthase, subunit 1 (PDSS1) and OH-benzoate polyprenyltransferase (COQ2) mutations in ubiquinone deficiency and oxidative phosphorylation disorders by Julie Mollet, Irina Giurgea, Dimitri Schlemmer, Gustav Dallner, Dominique Chrétien, Agnés Delahodde, Delphine Bacq, Pascale de Lonlay, Arnold Münnich, Agnès Rötig
Published 2007Artigo -
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CABC1 Gene Mutations Cause Ubiquinone Deficiency with Cerebellar Ataxia and Seizures by Julie Mollet, Agnès Delahodde, Valérie Serre, Dominique Chrétien, Dimitri Schlemmer, Anne Lombès, Nathalie Boddaert, Isabelle Desguerre, Pascale de Lonlay, Hélène Ogier de Baulny, Arnold Münnich, Agnès Rötig
Published 2008Artigo -
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Mutations in human lipoyltransferase gene LIPT1cause a Leigh disease with secondary deficiency for pyruvate and alpha-ketoglutarate dehydrogenase by Yohan Sorèze, Audrey Boutron, Florence Habarou, Christine Barnérias, Luc Nonnenmacher, Hélène Delpech, Asmaa Mamoune, Dominique Chrétien, Laurence Hubert, Christine Bôle‐Feysot, Patrick Nitschké, Isabelle Correia, Claude Sardet, Nathalie Boddaert, Yamina Hamel, Agnès Delahodde, Chris Ottolenghi, Pascale de Lonlay
Published 2013Artigo -
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Yeast as a system for modeling mitochondrial disease mechanisms and discovering therapies by Jean-Paul Lasserre, Alain Dautant, Raeka S. Aiyar, Róża Kucharczyk, Annie Glatigny, Déborah Tribouillard‐Tanvier, Joanna Rytka, Marc Blondel, Natalia Skoczeń, Pascal Reynier, Laras Pitayu, Agnès Rötig, Agnès Delahodde, Lars M. Steinmetz, Geneviève Dujardin, Vincent Procaccio, Jean‐Paul di Rago
Published 2015Revisão -
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LPIN1 gene mutations: a major cause of severe rhabdomyolysis in early childhood by Caroline Michot, Laurence Hubert, Michèle Brivet, Linda De Meırleır, Vassili Valayannopoulos, Wolfgang Müller‐Felber, Venkateswaran Ramesh, Hélène Ogier, Isabelle Desguerre, Cécilia Altuzarra, Elizabeth Thompson, Martin Smitka, Angela Huebner, Marie Husson, Rita Horváth, Patrick F. Chinnery, Frédéric M. Vaz, Arnold Münnich, Orly Elpeleg, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay
Published 2010Artigo -
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FDXR Mutations Cause Sensorial Neuropathies and Expand the Spectrum of Mitochondrial Fe-S-Synthesis Diseases by Antoine Paul, Anthony Drecourt, Floriane Petit, D. Dupin Deguine, Christelle Vasnier, Myriam Oufadem, Cécile Masson, Crystel Bonnet, Saber Masmoudi, Isabelle Mosnier, L. Mahieu, D. Bouccara, Josseline Kaplan, Georges Challe, C. Domange, Fanny Mochel, Olivier Sterkers, S. Gerber, Patrick Nitschké, Christine Bôle‐Feysot, Laurence Jonard, Souad Gherbi, Oriane Mercati, Ines Aïssa, Stanislas Lyonnet, Agnès Rötig, Agnès Delahodde, Sandrine Marlin
Published 2017Artigo -
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Biallelic PPA2 Mutations Cause Sudden Unexpected Cardiac Arrest in Infancy by Anne Guimier, Christopher T. Gordon, François Godard, Gianina Ravenscroft, Myriam Oufadem, Christelle Vasnier, Caroline Rambaud, Patrick Nitschké, Christine Bôle‐Feysot, Cécile Masson, Stéphane Dauger, Cheryl Longman, Nigel G. Laing, B. Kugener, Damien Bonnet, Patrice Bouvagnet, Sylvie Di Filippo, Vincent Probst, Richard Redon, Philippe Charron, Agnès Rötig, Stanislas Lyonnet, Alain Dautant, Loïc de Pontual, Jean-Paul di Rago, Agnés Delahodde, Jeanne Amiel
Published 2016Artigo -
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Study of <i>LPIN1</i>, <i>LPIN2</i> and <i>LPIN3</i> in rhabdomyolysis and exercise‐induced myalgia by Caroline Michot, Laurence Hubert, Norma B. Romero, Amr S. Gouda, Asmaa Mamoune, Suja Ann Mathew, Edwin P. Kirk, Louis Viollet, Shamima Rahman, Soumeya Bekri, Heidi Peters, James M. McGill, Emma Glamuzina, Michelle A. Farrar, Maya der von Hagen, Ian E. Alexander, Brian Kirmse, Magalie Barth, Pascal Laforêt, Pascale Benlian, Arnold Münnich, Marc Jeanpierre, Orly Elpeleg, Ophry Pines, Agnès Delahodde, Yves de Keyzer, Pascale de Lonlay
Published 2012Artigo -
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Biallelic Mutations in LIPT2 Cause a Mitochondrial Lipoylation Defect Associated with Severe Neonatal Encephalopathy by Florence Habarou, Yamina Hamel, Tobias B. Haack, René G. Feichtinger, Élise Lebigot, Iris Marquardt, Kanetee Busiah, Cécile Laroche, Marine Madrange, Coraline Grisel, Clément Pontoizeau, Monika Eisermann, Audrey Boutron, Dominique Chrétien, Bernadette Chadefaux-Vekemans, Robert Barouki, Christine Bole‐Feysot, Patrick Nitschké, Nicolas Goudin, Nathalie Boddaert, Ivan Nemazanyy, Agnès Delahodde, Stefan Kölker, Richard J. Rodenburg, G. Christoph Korenke, Thomas Meitinger, Tim M. Strom, Holger Prokisch, Agnès Rötig, Chris Ottolenghi, Johannes A. Mayr, Pascale de Lonlay
Published 2017Artigo -
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Developmental Consequences of Defective ATG7-Mediated Autophagy in Humans by Jack J. Collier, Claire Guissart, Monika Oláhová, Souphatta Sasorith, Florence Piron‐Prunier, Fumi Suomi, David Zhang, Ubaldo Martinez‐Outschoorn, Nicolas Leboucq, Angela Bahr, Silvia Azzarello‐Burri, Selina Reich, Lüdger Schöls, Tuomo Polvikoski, Pierre Meyer, Lise Larrieu, Andrew M. Schaefer, Hessa S. Alsaif, Suad Alyamani, Stephan Züchner, Inês A. Barbosa, Charu Deshpande, Angela Pyle, Anita Rauch, Matthis Synofzik, Fowzan S. Alkuraya, François Rivier, Mina Ryten, Robert McFarland, Agnés Delahodde, Thomas G. McWilliams, M. Kœnig, Robert W. Taylor
Published 2021Artigo -
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Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy by Samira Ait-El-Mkadem, Manal Dayem-Quere, Mirjana Gušić, Annabelle Chaussenot, Sylvie Bannwarth, Bérengère François, Emmanuelle C. Genin, Konstantina Fragaki, Catharina L.M. Volker-Touw, Christelle Vasnier, Valérie Serre, Koen L.I. van Gassen, Françoise Lespinasse, Susan Richter, Graeme Eisenhofer, Cécile Rouzier, Fanny Mochel, Anne de Saint Martin, Marie‐Thérèse Abi Wardé, Monique G.M. de Sain-van der Velde, Judith Jans, Jeanne Amiel, Žiga Avsec, Christian Mertes, Tobias B. Haack, Tim M. Strom, Thomas Meitinger, Penelope E. Bonnen, Robert W. Taylor, Julien Gagneur, Peter M. van Hasselt, Agnès Rötig, Agnès Delahodde, Holger Prokisch, Sabine A. Fuchs, Véronique Paquis‐Flucklinger
Published 2016Artigo
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