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

Mobile App for Parental Empowerment for Caregivers of Children With Autism Spectrum Disorders: Prospective Open Trial

by Olivier Bonnot, Vladimir Adrien, Veronique Venelle, Dominique Bonneau, Fanny Gollier-Briant, Stephane Mouchabac
Published 2021-09-01

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

by Elise Riquin, Elise Riquin, Elise Riquin, Magalie Barth, Thomas Le Nerzé, Natwin Pasquini, Clement 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 2022-04-01

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

Letter to the editor on: prophylactic nicotinamide treatment protects from rotenone-induced neurodegeneration by increasing mitochondrial content and volume

by Cinzia Bocca, Judith Kouassi-Nzoughet, Juan Manuel Chao de la Barca, Dominique Bonneau, Christophe Verny, Philippe Gohier, Christophe Orssaud, Pascal Reynier
Published 2024-04-01

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

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

by Majida Charif, Arnaud Chevrollier, Naïg Gueguen, Selma Kane, Céline Bris, David Goudenège, Valerie Desquiret-Dumas, Isabelle Meunier, Fanny Mochel, Luc Jeanjean, Fanny Varenne, Vincent Procaccio, Pascal Reynier, Dominique Bonneau, Patrizia Amati-Bonneau, Guy Lenaers
Published 2022-07-01

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

The Study of a 231 French Patient Cohort Significantly Extends the Mutational Spectrum of the Two Major Usher Genes <i>MYO7A</i> and <i>USH2A</i>

by Luke Mansard, David Baux, Christel Vaché, Catherine Blanchet, Isabelle Meunier, Marjolaine Willems, Valérie Faugère, Corinne Baudoin, Melody Moclyn, Julie Bianchi, Helene Dollfus, Brigitte Gilbert-Dussardier, Delphine Dupin-Deguine, Dominique Bonneau, Isabelle Drumare, Sylvie Odent, Xavier Zanlonghi, Mireille Claustres, Michel Koenig, Vasiliki Kalatzis, Anne-Françoise Roux
Published 2021-12-01

Glutamate-Induced Deregulation of Krebs Cycle in Mitochondrial Encephalopathy Lactic Acidosis Syndrome Stroke-Like Episodes (MELAS) Syndrome Is Alleviated by Ketone Body Exposure

by Sophie Belal, David Goudenège, Cinzia Bocca, Florent Dumont, Juan Manuel Chao De La Barca, Valérie Desquiret-Dumas, Naïg Gueguen, Guillaume Geffroy, Rayane Benyahia, Selma Kane, Salim Khiati, Céline Bris, Tamas Aranyi, Daniel Stockholm, Aurore Inisan, Aurélie Renaud, Magalie Barth, Gilles Simard, Pascal Reynier, Franck Letournel, Guy Lenaers, Dominique Bonneau, Arnaud Chevrollier, Vincent Procaccio
Published 2022-07-01

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

Clinical Utility of a Unique Genome-Wide DNA Methylation Signature for <i>KMT2A</i>-Related Syndrome

by Aidin Foroutan, Sadegheh Haghshenas, Pratibha Bhai, Michael A. Levy, Jennifer Kerkhof, Haley McConkey, Marcello Niceta, Andrea Ciolfi, Lucia Pedace, Evelina Miele, David Genevieve, Solveig Heide, Mariëlle Alders, Giuseppe Zampino, Giuseppe Merla, Mélanie Fradin, Eric Bieth, Dominique Bonneau, Klaus Dieterich, Patricia Fergelot, Elise Schaefer, Laurence Faivre, Antonio Vitobello, Silvia Maitz, Rita Fischetto, Cristina Gervasini, Maria Piccione, Ingrid van de Laar, Marco Tartaglia, Bekim Sadikovic, Anne-Sophie Lebre
Published 2022-02-01

TEFM variants impair mitochondrial transcription causing childhood-onset neurological disease

by Lindsey Van Haute, Emily O’Connor, Héctor Díaz-Maldonado, Benjamin Munro, Kiran Polavarapu, Daniella H. Hock, Gautham Arunachal, Alkyoni Athanasiou-Fragkouli, Mainak Bardhan, Magalie Barth, Dominique Bonneau, Nicola Brunetti-Pierri, Gerarda Cappuccio, Nikeisha J. Caruana, Natalia Dominik, Himanshu Goel, Guy Helman, Henry Houlden, Guy Lenaers, Karine Mention, David Murphy, Bevinahalli Nandeesh, Catarina Olimpio, Christopher A. Powell, Veeramani Preethish-Kumar, Vincent Procaccio, Rocio Rius, Pedro Rebelo-Guiomar, Cas Simons, Seena Vengalil, Maha S. Zaki, Alban Ziegler, David R. Thorburn, David A. Stroud, Reza Maroofian, John Christodoulou, Claes Gustafsson, Atchayaram Nalini, Hanns Lochmüller, Michal Minczuk, Rita Horvath
Published 2023-02-01

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