Dominant optic atrophy

por Lenaers, Guy, Hamel, Christian, Delettre, Cécile, Amati-Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Reynier, Pascal, Milea, Dan
Publicado 2012

OPA1-related dominant optic atrophy is not strongly influenced by mitochondrial DNA background

por Pierron, Denis, Ferré, Marc, Rocher, Christophe, Chevrollier, Arnaud, Murail, Pascal, Thoraval, Didier, Amati-Bonneau, Patrizia, Reynier, Pascal, Letellier, Thierry
Publicado 2009

A ROD–CONE DYSTROPHY IS SYSTEMATICALLY ASSOCIATED TO THE RTN4IP1 RECESSIVE OPTIC ATROPHY

por Meunier, Isabelle, Bocquet, Béatrice, Charif, Majida, Dhaenens, Claire-Marie, Manes, Gael, Amati-Bonneau, Patrizia, Roubertie, Agathe, Zanlonghi, Xavier, Lenaers, Guy
Publicado 2021

Bioinformatics Tools and Databases to Assess the Pathogenicity of Mitochondrial DNA Variants in the Field of Next Generation Sequencing

por Bris, Céline, Goudenege, David, Desquiret-Dumas, Valérie, Charif, Majida, Colin, Estelle, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Procaccio, Vincent
Publicado 2018

Use of Next-Generation Sequencing for the Molecular Diagnosis of 1,102 Patients With a Autosomal Optic Neuropathy

por Charif, Majida, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valérie, Colin, Estelle, Ziegler, Alban, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Lenaers, Guy, Amati-Bonneau, Patrizia
Publicado 2021

Autophagy controls the pathogenicity of OPA1 mutations in dominant optic atrophy

por Kane, Mariame Selma, Alban, Jennifer, Desquiret‐Dumas, Valérie, Gueguen, Naïg, Ishak, Layal, Ferre, Marc, Amati‐Bonneau, Patrizia, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal, Chevrollier, Arnaud
Publicado 2017

Novel NDUFS4 gene mutation in an atypical late-onset mitochondrial form of multifocal dystonia

por Bris, Celine, Rouaud, Tiphaine, Desquiret-Dumas, Valerie, Gueguen, Naig, Goudenege, David, Barth, Magalie, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy, Reynier, Pascal, Lebre, Anne-Sophie, Procaccio, Vincent
Publicado 2017

Psychiatric Symptoms of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

por Riquin, Elise, Le Nerzé, Thomas, Pasquini, Natwin, Barth, Magalie, Prouteau, Clément, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud
Publicado 2021

Neuropsychological Features of Children and Adolescents With Mitochondrial Disorders: A Descriptive Case Series

por Riquin, Elise, Barth, Magalie, Le Nerzé, Thomas, Pasquini, Natwin, Prouteau, Clement, Colin, Estelle, Amati Bonneau, Patrizia, Procaccio, Vincent, Van Bogaert, Patrick, Duverger, Philippe, Bonneau, Dominique, Roy, Arnaud
Publicado 2022

Acute and late-onset optic atrophy due to a novel OPA1 mutation leading to a mitochondrial coupling defect

por Nochez, Yannick, Arsene, Sophie, Gueguen, Naig, Chevrollier, Arnaud, Ferré, Marc, Guillet, Virginie, Desquiret, Valérie, Toutain, Annick, Bonneau, Dominique, Procaccio, Vincent, Amati-Bonneau, Patrizia, Pisella, Pierre-Jean, Reynier, Pascal
Publicado 2009

Dominant mutations in MIEF1 affect mitochondrial dynamics and cause a singular late onset optic neuropathy

por Charif, Majida, Wong, Yvette C., Kim, Soojin, Guichet, Agnès, Vignal, Catherine, Zanlonghi, Xavier, Bensaid, Philippe, Procaccio, Vincent, Bonneau, Dominique, Amati-Bonneau, Patrizia, Reynier, Pascal, Krainc, Dimitri, Lenaers, Guy
Publicado 2021

Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration

por Angebault, Claire, Gueguen, Naïg, Desquiret-Dumas, Valérie, Chevrollier, Arnaud, Guillet, Virginie, Verny, Christophe, Cassereau, Julien, Ferre, Marc, Milea, Dan, Amati-Bonneau, Patrizia, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal, Loiseau, Dominique
Publicado 2011

Cyclosporine A does not prevent second-eye involvement in Leber’s hereditary optic neuropathy

por Leruez, Stéphanie, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Amati-Bonneau, Patrizia, Reynier, Pascal, Scherer, Clarisse, Prundean, Adriana, Orssaud, Christophe, Zanlonghi, Xavier, Rougier, Marie-Bénédicte, Tilikete, Caroline, Miléa, Dan
Publicado 2018

OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database

por Le Roux, Bastien, Lenaers, Guy, Zanlonghi, Xavier, Amati-Bonneau, Patrizia, Chabrun, Floris, Foulonneau, Thomas, Caignard, Angélique, Leruez, Stéphanie, Gohier, Philippe, Procaccio, Vincent, Milea, Dan, den Dunnen, Johan T., Reynier, Pascal, Ferré, Marc
Publicado 2019

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

por Guehlouz, Khadidja, Foulonneau, Thomas, Amati-Bonneau, Patrizia, Charif, Majida, Colin, Estelle, Bris, Céline, Desquiret-Dumas, Valérie, Milea, Dan, Gohier, Philippe, Procaccio, Vincent, Bonneau, Dominique, den Dunnen, Johan T., Lenaers, Guy, Reynier, Pascal, Ferré, Marc
Publicado 2021

Next-Generation Sequencing Identifies Novel PMPCA Variants in Patients with Late-Onset Dominant Optic Atrophy

por Charif, Majida, Chevrollier, Arnaud, Gueguen, Naïg, Kane, Selma, Bris, Céline, Goudenège, David, Desquiret-Dumas, Valerie, Meunier, Isabelle, Mochel, Fanny, Jeanjean, Luc, Varenne, Fanny, Procaccio, Vincent, Reynier, Pascal, Bonneau, Dominique, Amati-Bonneau, Patrizia, Lenaers, Guy
Publicado 2022

A plasma metabolomic signature of Leber hereditary optic neuropathy showing taurine and nicotinamide deficiencies

por Bocca, Cinzia, Le Paih, Victor, Chao de la Barca, Juan Manuel, Kouassy Nzoughet, Judith, Amati-Bonneau, Patrizia, Blanchet, Odile, Védie, Benoit, Géromin, Daniela, Simard, Gilles, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Orssaud, Christophe, Reynier, Pascal
Publicado 2021

Next-generation sequencing of Tunisian Leigh syndrome patients reveals novel variations: impact for diagnosis and treatment

por Hechmi, Meriem, Charif, Majida, Kraoua, Ichraf, Fassatoui, Meriem, Dallali, Hamza, Desquiret-Dumas, Valerie, Bris, Céline, Goudenège, David, Drissi, Cyrine, Galaï, Saïd, Ouerhani, Slah, Procaccio, Vincent, Amati-Bonneau, Patrizia, Abdelhak, Sonia, Ben Youssef-Turki, Ilhem, Lenaers, Guy, Kefi, Rym
Publicado 2022

The Metabolomic Bioenergetic Signature of Opa1-Disrupted Mouse Embryonic Fibroblasts Highlights Aspartate Deficiency

por Bocca, Cinzia, Kane, Mariame Selma, Veyrat-Durebex, Charlotte, Chupin, Stéphanie, Alban, Jennifer, Kouassi Nzoughet, Judith, Le Mao, Morgane, Chao de la Barca, Juan Manuel, Amati-Bonneau, Patrizia, Bonneau, Dominique, Procaccio, Vincent, Lenaers, Guy, Simard, Gilles, Chevrollier, Arnaud, Reynier, Pascal
Publicado 2018

Rare Primary Mitochondrial DNA Mutations and Probable Synergistic Variants in Leber’s Hereditary Optic Neuropathy

por Achilli, Alessandro, Iommarini, Luisa, Olivieri, Anna, Pala, Maria, Hooshiar Kashani, Baharak, Reynier, Pascal, La Morgia, Chiara, Valentino, Maria Lucia, Liguori, Rocco, Pizza, Fabio, Barboni, Piero, Sadun, Federico, De Negri, Anna Maria, Zeviani, Massimo, Dollfus, Helene, Moulignier, Antoine, Ducos, Ghislaine, Orssaud, Christophe, Bonneau, Dominique, Procaccio, Vincent, Leo-Kottler, Beate, Fauser, Sascha, Wissinger, Bernd, Amati-Bonneau, Patrizia, Torroni, Antonio, Carelli, Valerio
Publicado 2012