Severe respiratory complex III defect prevents liver adaptation to prolonged fasting
Kremer, Laura S, Stead, Caroline L’hermitte, Lesimple, Pierre, Gilleron, Mylène, Filaut, Sandrine, Jardel, Claude, Haack, Tobias B, Strom, Tim M, Meitinger, Thomas, Azzouz, Hatem, Tebib, Neji, Baulny, Hélène Ogier de, Touati, Guy, Prokisch, Holger, Lombès, Anne
Published in Journal of hepatology (01.08.2016)
Published in Journal of hepatology (01.08.2016)
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Homoplasmic deleterious MT-ATP6/8 mutations in adult patients
Rucheton, Benoit, Jardel, Claude, Filaut, Sandrine, Amador, Maria del Mar, Maisonobe, Thierry, Serre, Isabelle, Romero, Norma Beatriz, Leonard-Louis, Sarah, Haraux, Francis, Lombès, Anne
Published in Mitochondrion (01.11.2020)
Published in Mitochondrion (01.11.2020)
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A diagnostic flow chart for POLG-related diseases based on signs sensitivity and specificity
Tchikviladzé, Maya, Gilleron, Mylène, Maisonobe, Thierry, Galanaud, Damien, Laforêt, Pascal, Durr, Alexandra, Eymard, Bruno, Mochel, Fanny, Ogier, Hélène, Béhin, Anthony, Stojkovic, Tanya, Degos, Bertrand, Gourfinkel-An, Isabelle, Sedel, Frederic, Anheim, Mathieu, Elbaz, Alexis, Viala, Karine, Vidailhet, Marie, Brice, Alexis, Jardel, Claude, Lombès, Anne
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2015)
Published in Journal of neurology, neurosurgery and psychiatry (01.06.2015)
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Usefulness of combined sequencing of the mitochondrial genome and a targeted panel of nuclear genes involved in mitochondrial diseases
Rucheton, Benoit, Ader, Flavie, Goudenege, David, Filaut, Sandrine, Legrand, Laura, Bloch, Adrien, MitoDiag, Réseau, Fressart, Véronique, Bonnefont-Rousselot, Dominique, Mochel, Fanny, Lamari, Foudil, Richard, Pascale, Procaccio, Vincent, Bannwarth, Sylvie
Published in Annales de biologie clinique (Paris) (01.02.2021)
Published in Annales de biologie clinique (Paris) (01.02.2021)
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Homoplasmic mitochondrial tRNAPro mutation causing exercise-induced muscle swelling and fatigue
Auré, Karine, Fayet, Guillemette, Chicherin, Ivan, Rucheton, Benoit, Filaut, Sandrine, Heckel, Anne-Marie, Eichler, Julie, Caillon, Florence, Péréon, Yann, Entelis, Nina, Tarassov, Ivan, Lombès, Anne
Published in Neurology. Genetics (01.08.2020)
Published in Neurology. Genetics (01.08.2020)
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Homoplasmic mitochondrial tRNA Pro mutation causing exercise-induced muscle swelling and fatigue
Auré, Karine, Fayet, Guillemette, Chicherin, Ivan, Rucheton, Benoit, Filaut, Sandrine, Heckel, Anne-Marie, Eichler, Julie, Caillon, Florence, Péréon, Yann, Entelis, Nina, Tarassov, Ivan, Lombès, Anne
Published in Neurology. Genetics (01.08.2020)
Published in Neurology. Genetics (01.08.2020)
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A novel mitochondrial DNA tRNAIle (m.4322dupC) mutation associated with idiopathic dilated cardiomyopathy
Mahjoub, Sinda, Sternberg, Damien, Boussaada, Rafik, Filaut, Sandrine, Gmira, Fathi, Mechmech, Rachid, Jardel, Claude, Arab, Saïda Ben
Published in Diagnostic molecular pathology (01.12.2007)
Published in Diagnostic molecular pathology (01.12.2007)
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