Rationale and protocol for using a smartphone application to study autism spectrum disorders: SMARTAUTISM

Por Bonnot, Olivier, Bonneau, Dominique, Doudard, Aude, Duverger, Philippe
Publicado no BMJ Open (2016)

Salivary Hormones Response to Preparation and Pre-competitive Training of World-class Level Athletes

Por Guilhem, Gaël, Hanon, Christine, Gendreau, Nicolas, Bonneau, Dominique, Guével, Arnaud, Chennaoui, Mounir
Publicado no Front Physiol (2015)

A locus-specific database for mutations in GDAP1 allows analysis of genotype-phenotype correlations in Charcot-Marie-Tooth diseases type 4A and 2K

Por Cassereau, Julien, Chevrollier, Arnaud, Bonneau, Dominique, Verny, Christophe, Procaccio, Vincent, Reynier, Pascal, Ferré, Marc
Publicado em 2011

A de novo germline MLH1 mutation in a Lynch syndrome patient with discordant immunohistochemical and molecular biology test results

Por Airaud, Fabrice, Küry, Sébastien, Valo, Isabelle, Maury, Ingrid, Bonneau, Dominique, Ingster, Olivier, Bezieau, Stéphane
Publicado em 2012

Bilateral cataract and high serum ferritin: a new dominant genetic disorder?

Por Bonneau, Dominique, Winter-Fuseau, Isabelle, Loiseau, Marie-Noëlle, Amati, Patrizia, Berthier, Michel, Oriot, Denis, Beaumont, Carole
Publicado em 1995

USH1A: Chronicle of a Slow Death

Por Gerber, Sylvie, Bonneau, Dominique, Gilbert, Brigitte, Munnich, Arnold, Dufier, Jean-Louis, Rozet, Jean-Michel, Kaplan, Josseline
Publicado em 2006

Dominant optic atrophy

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

Seasonal influence over serum and urine metabolic markers in submariners during prolonged patrols

Por Holy, Xavier, Bégot, Laurent, Renault, Sylvie, Butigieg, Xavier, André, Catherine, Bonneau, Dominique, Savourey, Gustave, Collombet, Jean-Marc
Publicado no Physiol Rep (2015)

Is ABCC6 a genuine mitochondrial protein?

Por Ferré, Marc, Reynier, Pascal, Chevrollier, Arnaud, Prunier-Mirebeau, Delphine, Lefthériotis, Georges, Henrion, Daniel, Bonneau, Dominique, Procaccio, Vincent, Martin, Ludovic
Publicado em 2013

Theory of mind and empathy in preclinical and clinical Huntington’s disease

Por Adjeroud, Najia, Besnard, Jérémy, Massioui, Nicole El, Verny, Christophe, Prudean, Adriana, Scherer, Clarisse, Gohier, Bénédicte, Bonneau, Dominique, Allain, Philippe
Publicado no Soc Cogn Affect Neurosci (2016)

Metabolically induced heteroplasmy shifting and L-arginine treatment reduce the energetic defect in a neuronal-like model of MELAS

Por Desquiret-Dumas, Valerie, Gueguen, Naig, Barth, Magalie, Chevrollier, Arnaud, Hancock, Saege, Wallace, Douglas C, Amati-Bonneau, Patrizia, Henrion, Daniel, Bonneau, Dominique, Reynier, Pascal, Procaccio, Vincent
Publicado em 2012

Evaluation of the colorectal cancer risk conferred by rare UNC5C alleles

Por Küry, Sébastien, Garrec, Céline, Airaud, Fabrice, Breheret, Flora, Guibert, Virginie, Frenard, Cécile, Jiao, Shuo, Bonneau, Dominique, Berthet, Pascaline, Bossard, Céline, Ingster, Olivier, Cauchin, Estelle, Bezieau, Stéphane
Publicado em 2014

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 em 2009

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 em 2011

Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells

Por Desquiret-Dumas, Valérie, Gueguen, Naïg, Leman, Géraldine, Baron, Stéphanie, Nivet-Antoine, Valérie, Chupin, Stéphanie, Chevrollier, Arnaud, Vessières, Emilie, Ayer, Audrey, Ferré, Marc, Bonneau, Dominique, Henrion, Daniel, Reynier, Pascal, Procaccio, Vincent
Publicado em 2013

Intellectual disability associated with retinal dystrophy in the Xp11.3 deletion syndrome: ZNF674 on trial. Guilty or innocent?

Por Delphin, Nathalie, Hanein, Sylvain, Taie, Lucas Fares, Zanlonghi, Xavier, Bonneau, Dominique, Moisan, Jean-Paul, Boyle, Christine, Nitschke, Patrick, Pruvost, Solenn, Bonnefont, Jean-Paul, Munnich, Arnold, Roche, Olivier, Kaplan, Josseline, Rozet, Jean-Michel
Publicado em 2012

Eight previously unidentified mutations found in the OA1 ocular albinism gene

Por Mayeur, Hélène, Roche, Olivier, Vêtu, Christelle, Jaliffa, Carolina, Marchant, Dominique, Dollfus, Hélène, Bonneau, Dominique, Munier, Francis L, Schorderet, Daniel F, Levin, Alex V, Héon, Elise, Sutherland, Joanne, Lacombe, Didier, Said, Edith, Mezer, Eedy, Kaplan, Josseline, Dufier, Jean-Louis, Marsac, Cécile, Menasche, Maurice, Abitbol, Marc
Publicado em 2006

MEF2C haploinsufficiency caused by either microdeletion of the 5q14.3 region or mutation is responsible for severe mental retardation with stereotypic movements, epilepsy and/or ce...

Por Le Meur, Nathalie, Holder-Espinasse, Muriel, Jaillard, Sylvie, Goldenberg, Alice, Joriot, Sylvie, Amati-Bonneau, Patrizia, Guichet, Agnès, Barth, Magalie, Charollais, Aude, Journel, Hubert, Auvin, Stéphane, Boucher, Cécile, Kerckaert, Jean-Pierre, David, Véronique, Manouvrier-Hanu, Sylvie, Saugier-Veber, Pascale, Frébourg, Thierry, Dubourg, Christèle, Andrieux, Joris, Bonneau, Dominique
Publicado em 2010

Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome

Por Colin, Estelle, Huynh Cong, Evelyne, Mollet, Géraldine, Guichet, Agnès, Gribouval, Olivier, Arrondel, Christelle, Boyer, Olivia, Daniel, Laurent, Gubler, Marie-Claire, Ekinci, Zelal, Tsimaratos, Michel, Chabrol, Brigitte, Boddaert, Nathalie, Verloes, Alain, Chevrollier, Arnaud, Gueguen, Naig, Desquiret-Dumas, Valérie, Ferré, Marc, Procaccio, Vincent, Richard, Laurence, Funalot, Benoit, Moncla, Anne, Bonneau, Dominique, Antignac, Corinne
Publicado no Am J Hum Genet (2014)

Identification of a Novel BBS Gene (BBS12) Highlights the Major Role of a Vertebrate-Specific Branch of Chaperonin-Related Proteins in Bardet-Biedl Syndrome

Por Stoetzel, Corinne, Muller, Jean, Laurier, Virginie, Davis, Erica E., Zaghloul, Norann A., Vicaire, Serge, Jacquelin, Cécile, Plewniak, Frédéric, Leitch, Carmen C., Sarda, Pierre, Hamel, Christian, de Ravel, Thomy J. L., Lewis, Richard Alan, Friederich, Evelyne, Thibault, Christelle, Danse, Jean-Marc, Verloes, Alain, Bonneau, Dominique, Katsanis, Nicholas, Poch, Olivier, Mandel, Jean-Louis, Dollfus, Hélène
Publicado em 2007