Neuropsychological and Psychiatric Features of Children and Adolescents Affected With Mitochondrial Diseases: A Systematic Review

by Elise Riquin, Elise Riquin, Elise Riquin, Philippe Duverger, Philippe Duverger, Cindy Cariou, Magalie Barth, Clément Prouteau, Patrick Van Bogaert, Dominique Bonneau, Dominique Bonneau, Arnaud Roy, Arnaud Roy
Published 2020-07-01

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

by Elise Riquin, Elise Riquin, Elise Riquin, Thomas Le Nerzé, Natwin Pasquini, Magalie Barth, Clément Prouteau, Estelle Colin, Estelle Colin, Patrizia Amati Bonneau, Vincent Procaccio, Patrick Van Bogaert, Philippe Duverger, Philippe Duverger, Dominique Bonneau, Dominique Bonneau, Arnaud Roy, Arnaud Roy
Published 2021-07-01

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

by Céline Bris, Céline Bris, David Goudenege, David Goudenege, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Majida Charif, Estelle Colin, Estelle Colin, Dominique Bonneau, Dominique Bonneau, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau, Guy Lenaers, Pascal Reynier, Pascal Reynier, Vincent Procaccio, Vincent Procaccio
Published 2018-12-01

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

by Majida Charif, Majida Charif, Céline Bris, Céline Bris, David Goudenège, David Goudenège, Valérie Desquiret-Dumas, Valérie Desquiret-Dumas, Estelle Colin, Estelle Colin, Alban Ziegler, Alban Ziegler, Vincent Procaccio, Vincent Procaccio, Pascal Reynier, Pascal Reynier, Dominique Bonneau, Dominique Bonneau, Guy Lenaers, Patrizia Amati-Bonneau, Patrizia Amati-Bonneau
Published 2021-03-01

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

by Majida Charif, Yvette C. Wong, Soojin Kim, Agnès Guichet, Catherine Vignal, Xavier Zanlonghi, Philippe Bensaid, Vincent Procaccio, Dominique Bonneau, Patrizia Amati-Bonneau, Pascal Reynier, Dimitri Krainc, Guy Lenaers
Published 2021-02-01

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

by Stéphanie Leruez, Christophe Verny, Dominique Bonneau, Vincent Procaccio, Guy Lenaers, Patrizia Amati-Bonneau, Pascal Reynier, Clarisse Scherer, Adriana Prundean, Christophe Orssaud, Xavier Zanlonghi, Marie-Bénédicte Rougier, Caroline Tilikete, Dan Miléa
Published 2018-02-01

ACO2 clinicobiological dataset with extensive phenotype ontology annotation

by Khadidja Guehlouz, Thomas Foulonneau, Patrizia Amati-Bonneau, Majida Charif, Estelle Colin, Céline Bris, Valérie Desquiret-Dumas, Dan Milea, Philippe Gohier, Vincent Procaccio, Dominique Bonneau, Johan T. den Dunnen, Guy Lenaers, Pascal Reynier, Marc Ferré
Published 2021-08-01

A Data Mining Metabolomics Exploration of Glaucoma

by Judith Kouassi Nzoughet, Khadidja Guehlouz, Stéphanie Leruez, Philippe Gohier, Cinzia Bocca, Jeanne Muller, Odile Blanchet, Dominique Bonneau, Gilles Simard, Dan Milea, Vincent Procaccio, Guy Lenaers, Juan M. Chao de la Barca, Pascal Reynier
Published 2020-01-01

OPA1-related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology

by Juan Manuel Chao de la Barca, Delphine Prunier-Mirebeau, Patrizia Amati-Bonneau, Marc Ferré, Emmanuelle Sarzi, Céline Bris, Stéphanie Leruez, Arnaud Chevrollier, Valérie Desquiret-Dumas, Naïg Gueguen, Christophe Verny, Christian Hamel, Dan Miléa, Vincent Procaccio, Dominique Bonneau, Guy Lenaers, Pascal Reynier
Published 2016-06-01

Rare primary mitochondrial DNA mutations and probable synergistic variants in Leber's hereditary optic neuropathy.

by Alessandro Achilli, Luisa Iommarini, Anna Olivieri, Maria Pala, Baharak Hooshiar Kashani, Pascal Reynier, Chiara La Morgia, Maria Lucia Valentino, Rocco Liguori, Fabio Pizza, Piero Barboni, Federico Sadun, Anna Maria De Negri, Massimo Zeviani, Helene Dollfus, Antoine Moulignier, Ghislaine Ducos, Christophe Orssaud, Dominique Bonneau, Vincent Procaccio, Beate Leo-Kottler, Sascha Fauser, Bernd Wissinger, Patrizia Amati-Bonneau, Antonio Torroni, Valerio Carelli
Published 2012-01-01

Increased Wnt and Notch signaling: a clue to the renal disease in Schimke immuno-osseous dysplasia?

by Marie Morimoto, Clara Myung, Kimberly Beirnes, Kunho Choi, Yumi Asakura, Arend Bokenkamp, Dominique Bonneau, Milena Brugnara, Joel Charrow, Estelle Colin, Amira Davis, Georges Deschenes, Mattia Gentile, Mario Giordano, Andrew K. Gormley, Rajeshree Govender, Mark Joseph, Kory Keller, Evelyne Lerut, Elena Levtchenko, Laura Massella, Christy Mayfield, Behzad Najafian, David Parham, Jurgen Spranger, Peter Stenzel, Uluc Yis, Zhongxin Yu, Jonathan Zonana, Glenda Hendson, Cornelius F. Boerkoel
Published 2016-11-01

Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: a gradient of severity in cognitive impairments.

by Claire S Leblond, Caroline Nava, Anne Polge, Julie Gauthier, Guillaume Huguet, Serge Lumbroso, Fabienne Giuliano, Coline Stordeur, Christel Depienne, Kevin Mouzat, Dalila Pinto, Jennifer Howe, Nathalie Lemière, Christelle M Durand, Jessica Guibert, Elodie Ey, Roberto Toro, Hugo Peyre, Alexandre Mathieu, Frédérique Amsellem, Maria Rastam, I Carina Gillberg, Gudrun A Rappold, Richard Holt, Anthony P Monaco, Elena Maestrini, Pilar Galan, Delphine Heron, Aurélia Jacquette, Alexandra Afenjar, Agnès Rastetter, Alexis Brice, Françoise Devillard, Brigitte Assouline, Fanny Laffargue, James Lespinasse, Jean Chiesa, François Rivier, Dominique Bonneau, Beatrice Regnault, Diana Zelenika, Marc Delepine, Mark Lathrop, Damien Sanlaville, Caroline Schluth-Bolard, Patrick Edery, Laurence Perrin, Anne Claude Tabet, Michael J Schmeisser, Tobias M Boeckers, Mary Coleman, Daisuke Sato, Peter Szatmari, Stephen W Scherer, Guy A Rouleau, Catalina Betancur, Marion Leboyer, Christopher Gillberg, Richard Delorme, Thomas Bourgeron
Published 2014-09-01

Genetic and functional analyses of SHANK2 mutations suggest a multiple hit model of autism spectrum disorders.

by Claire S Leblond, Jutta Heinrich, Richard Delorme, Christian Proepper, Catalina Betancur, Guillaume Huguet, Marina Konyukh, Pauline Chaste, Elodie Ey, Maria Rastam, Henrik Anckarsäter, Gudrun Nygren, I Carina Gillberg, Jonas Melke, Roberto Toro, Beatrice Regnault, Fabien Fauchereau, Oriane Mercati, Nathalie Lemière, David Skuse, Martin Poot, Richard Holt, Anthony P Monaco, Irma Järvelä, Katri Kantojärvi, Raija Vanhala, Sarah Curran, David A Collier, Patrick Bolton, Andreas Chiocchetti, Sabine M Klauck, Fritz Poustka, Christine M Freitag, Regina Waltes, Marnie Kopp, Eftichia Duketis, Elena Bacchelli, Fiorella Minopoli, Liliana Ruta, Agatino Battaglia, Luigi Mazzone, Elena Maestrini, Ana F Sequeira, Barbara Oliveira, Astrid Vicente, Guiomar Oliveira, Dalila Pinto, Stephen W Scherer, Diana Zelenika, Marc Delepine, Mark Lathrop, Dominique Bonneau, Vincent Guinchat, Françoise Devillard, Brigitte Assouline, Marie-Christine Mouren, Marion Leboyer, Christopher Gillberg, Tobias M Boeckers, Thomas Bourgeron
Published 2012-02-01

AMPA receptor GluA2 subunit defects are a cause of neurodevelopmental disorders

by Vincenzo Salpietro, Christine L. Dixon, Hui Guo, Oscar D. Bello, Jana Vandrovcova, Stephanie Efthymiou, Reza Maroofian, Gali Heimer, Lydie Burglen, Stephanie Valence, Erin Torti, Moritz Hacke, Julia Rankin, Huma Tariq, Estelle Colin, Vincent Procaccio, Pasquale Striano, Kshitij Mankad, Andreas Lieb, Sharon Chen, Laura Pisani, Conceicao Bettencourt, Roope Männikkö, Andreea Manole, Alfredo Brusco, Enrico Grosso, Giovanni Battista Ferrero, Judith Armstrong-Moron, Sophie Gueden, Omer Bar-Yosef, Michal Tzadok, Kristin G. Monaghan, Teresa Santiago-Sim, Richard E. Person, Megan T. Cho, Rebecca Willaert, Yongjin Yoo, Jong-Hee Chae, Yingting Quan, Huidan Wu, Tianyun Wang, Raphael A. Bernier, Kun Xia, Alyssa Blesson, Mahim Jain, Mohammad M. Motazacker, Bregje Jaeger, Amy L. Schneider, Katja Boysen, Alison M. Muir, Candace T. Myers, Ralitza H. Gavrilova, Lauren Gunderson, Laura Schultz-Rogers, Eric W. Klee, David Dyment, Matthew Osmond, Mara Parellada, Cloe Llorente, Javier Gonzalez-Peñas, Angel Carracedo, Arie Van Haeringen, Claudia Ruivenkamp, Caroline Nava, Delphine Heron, Rosaria Nardello, Michele Iacomino, Carlo Minetti, Aldo Skabar, Antonella Fabretto, SYNAPS Study Group, Miquel Raspall-Chaure, Michael Chez, Anne Tsai, Emily Fassi, Marwan Shinawi, John N. Constantino, Rita De Zorzi, Sara Fortuna, Fernando Kok, Boris Keren, Dominique Bonneau, Murim Choi, Bruria Benzeev, Federico Zara, Heather C. Mefford, Ingrid E. Scheffer, Jill Clayton-Smith, Alfons Macaya, James E. Rothman, Evan E. Eichler, Dimitri M. Kullmann, Henry Houlden
Published 2019-07-01