المؤلفون: Cinzia Bocca, Judith Kouassi-Nzoughet, Juan Manuel Chao de la Barca, Dominique Bonneau, Christophe Verny, Philippe Gohier, Christophe Orssaud, Pascal Reynier

المصدر: Acta Neuropathologica Communications, Vol 12, Iss 1, Pp 1-3 (2024)

مصطلحات موضوعية: Glaucoma, Leber hereditary optic neuropathy, Mitochondria, Nicotinamide, Optic neuropathy, Retinal ganglion cells, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2051-5960

URL الوصول: https://doaj.org/article/4f745d54585a4808a18b008b47ac493d

المؤلفون: 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

المصدر: Nature Communications, Vol 14, Iss 1, Pp 1-21 (2023)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/cd5cc9ecdd2c4821a6750da1e26f46ce

المؤلفون: Frédéric Tran Mau-Them, Julian Delanne, Anne-Sophie Denommé-Pichon, Hana Safraou, Ange-Line Bruel, Antonio Vitobello, Aurore Garde, Sophie Nambot, Nicolas Bourgon, Caroline Racine, Arthur Sorlin, Sébastien Moutton, Nathalie Marle, Thierry Rousseau, Paul Sagot, Emmanuel Simon, Catherine Vincent-Delorme, Odile Boute, Cindy Colson, Florence Petit, Marine Legendre, Sophie Naudion, Caroline Rooryck, Clément Prouteau, Estelle Colin, Agnès Guichet, Alban Ziegler, Dominique Bonneau, Godelieve Morel, Mélanie Fradin, Alinoé Lavillaureix, Chloé Quelin, Laurent Pasquier, Sylvie Odent, Gabriella Vera, Alice Goldenberg, Anne-Marie Guerrot, Anne-Claire Brehin, Audrey Putoux, Jocelyne Attia, Carine Abel, Patricia Blanchet, Constance F. Wells, Caroline Deiller, Mathilde Nizon, Sandra Mercier, Marie Vincent, Bertrand Isidor, Jeanne Amiel, Rodolphe Dard, Manon Godin, Nicolas Gruchy, Médéric Jeanne, Elise Schaeffer, Pierre-Yves Maillard, Frédérique Payet, Marie-Line Jacquemont, Christine Francannet, Sabine Sigaudy, Marine Bergot, Emilie Tisserant, Marie-Laure Ascencio, Christine Binquet, Yannis Duffourd, Christophe Philippe, Laurence Faivre, Christel Thauvin-Robinet

المصدر: Frontiers in Genetics, Vol 14 (2023)

مصطلحات موضوعية: exome sequencing (ES), chromosomal microarray, prenatal, fetal, diagnostic yield, Genetics, QH426-470

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fgene.2023.1099995/full; https://doaj.org/toc/1664-8021

URL الوصول: https://doaj.org/article/cfb986b66f2e4ab7a0d4424ced7c5602

المؤلفون: Estelle Colin, Yannis Duffourd, Martin Chevarin, Emilie Tisserant, Simon Verdez, Julien Paccaud, Ange-Line Bruel, Frédéric Tran Mau-Them, Anne-Sophie Denommé-Pichon, Julien Thevenon, Hana Safraou, Thomas Besnard, Alice Goldenberg, Benjamin Cogné, Bertrand Isidor, Julian Delanne, Arthur Sorlin, Sébastien Moutton, Mélanie Fradin, Christèle Dubourg, Magali Gorce, Dominique Bonneau, Salima El Chehadeh, François-Guillaume Debray, Martine Doco-Fenzy, Kevin Uguen, Nicolas Chatron, Bernard Aral, Nathalie Marle, Paul Kuentz, Anne Boland, Robert Olaso, Jean-François Deleuze, Damien Sanlaville, Patrick Callier, Christophe Philippe, Christel Thauvin-Robinet, Laurence Faivre, Antonio Vitobello

المصدر: Frontiers in Cell and Developmental Biology, Vol 11 (2023)

مصطلحات موضوعية: genome sequencing, RNA-seq, optical genome mapping, long-read sequencing, clinical diagnoses, Biology (General), QH301-705.5

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fcell.2023.1021920/full; https://doaj.org/toc/2296-634X

URL الوصول: https://doaj.org/article/4593e6258ee746c78872071719392347

المؤلفون: 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

المصدر: Scientific Data, Vol 8, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2052-4463

URL الوصول: https://doaj.org/article/195296a2e17347d9a874041f568137b7

المؤلفون: Dominique Bonneau, Michel Berthier, Nicole Malo, Guillaume Magnin, Christian Bonneau

المساهمون: Académie Vétérinaire de France

المصدر: Bulletin de l'Académie Vétérinaire de France 144(3):301-307

URL الوصول: https://www.persee.fr/doc/bavf_0001-4192_1991_num_144_3_11105

المؤلفون: 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

المصدر: Molecular Neurodegeneration, Vol 16, Iss 1, Pp 1-9 (2021)

مصطلحات موضوعية: Mitochondria dynamics, Mitochondrial disease, MIEF1, Mid51, Dominant optic atrophy (DOA), Inherited optic neuropathy (ION), Neurology. Diseases of the nervous system, RC346-429, Geriatrics, RC952-954.6

وصف الملف: electronic resource

Relation: https://doaj.org/toc/1750-1326

URL الوصول: https://doaj.org/article/e7ccbd1244924e7b9928a8f0b2608ff1

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

المصدر: Frontiers in Psychiatry, Vol 13 (2022)

مصطلحات موضوعية: mitochondrial disorders, child, adolescent, neuropsychological profile, intelligence, executive function, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2022.864445/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/21f765b1d702426e9e597d8cbb392d1e

المؤلفون: 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

المصدر: Biomedicines; Volume 10; Issue 7; Pages: 1665

مصطلحات موضوعية: mitochondrial diseases, mtDNA, MELAS syndrome, multi-omics, glutamate, tricarboxylic acid cycle, NADH/NAD imbalance, ketone body treatment

وصف الملف: application/pdf

Relation: Cell Biology and Pathology; https://dx.doi.org/10.3390/biomedicines10071665

الاتاحة: https://doi.org/10.3390/biomedicines10071665

المؤلفون: 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

المصدر: Genes; Volume 13; Issue 7; Pages: 1202

مصطلحات موضوعية: dominant optic atrophy, mitochondrial peptidase, mitochondrial dynamic, heterozygous variants, retinal ganglion cell degeneration

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Human Genomics and Genetic Diseases; https://dx.doi.org/10.3390/genes13071202

الاتاحة: https://doi.org/10.3390/genes13071202

المؤلفون: 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

المصدر: International Journal of Molecular Sciences; Volume 23; Issue 3; Pages: 1815

مصطلحات موضوعية: epigenetics, DNA methylation, episignature, Wiedemann–Steiner syndrome, KMT2A gene, intellectual disability, neurodevelopmental disorders

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Biology; https://dx.doi.org/10.3390/ijms23031815

الاتاحة: https://doi.org/10.3390/ijms23031815

المؤلفون: Olivier Bonnot, Vladimir Adrien, Veronique Venelle, Dominique Bonneau, Fanny Gollier-Briant, Stephane Mouchabac

المصدر: JMIR Mental Health, Vol 8, Iss 9, p e27803 (2021)

مصطلحات موضوعية: Psychology, BF1-990

وصف الملف: electronic resource

Relation: https://mental.jmir.org/2021/9/e27803; https://doaj.org/toc/2368-7959

URL الوصول: https://doaj.org/article/5037793a85f8482d9fe223dc1429cd6b

المؤلفون: 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

المصدر: Nature Communications, Vol 10, Iss 1, Pp 1-16 (2019)

مصطلحات موضوعية: Science

وصف الملف: electronic resource

Relation: https://doaj.org/toc/2041-1723

URL الوصول: https://doaj.org/article/67fdcf82e84544e095b6c7c81e0bd8ff

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

المصدر: Frontiers in Psychiatry, Vol 12 (2021)

مصطلحات موضوعية: mitochondrial disorders, child, adolescent & youth, psychiatric symptom, anxiety, depression, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fpsyt.2021.685532/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/aa9a67b9eeb246d5b22258954b65afbf

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

المصدر: Frontiers in Neurology, Vol 12 (2021)

مصطلحات موضوعية: inherited optic neuropathies, mitochondrial disorders, molecular diagnosis, next generation sequencing, retinal ganglia cells, Neurology. Diseases of the nervous system, RC346-429

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/articles/10.3389/fneur.2021.602979/full; https://doaj.org/toc/1664-2295

URL الوصول: https://doaj.org/article/1ac99f57b91c4a468c90f9bbd54604f7

المؤلفون: Floris Chabrun (7362473), Xavier Dieu (8271141), Pascale May-Panloup (5868428), Stéphanie Chupin (4591774), Jennifer Bourreau (317033), Daniel Henrion (431681), Franck Letournel (256829), Vincent Procaccio (68193), Dominique Bonneau (144939), Guy Lenaers (563171), Delphine Mirebeau-Prunier (256957), Juan Manuel Chao de la Barca (3621335), Pascal Reynier (92729)

مصطلحات موضوعية: Biochemistry, Medicine, Genetics, Neuroscience, Physiology, Sociology, Biological Sciences not elsewhere classified, brain regions, dimorphism, Predominantly Abolished, results show, Metabolomic Sexual Dimorphism, mouse brain metabolome, multivariate analyses, sex difference, sham controls, Mouse Brain, metabolomic study, gonadectomy, 35 metabolites, 188 metabolites

Relation: https://figshare.com/articles/journal_contribution/Metabolomic_Sexual_Dimorphism_of_the_Mouse_Brain_is_Predominantly_Abolished_by_Gonadectomy_with_a_Higher_Impact_on_Females/14414646

الاتاحة: https://doi.org/10.1021/acs.jproteome.1c00045.s001

المؤلفون: Majida Charif (326461), Yvette C. Wong (10199484), Soojin Kim (415355), Agnès Guichet (7375814), Catherine Vignal (5675447), Xavier Zanlonghi (7362470), Philippe Bensaid (236805), Vincent Procaccio (68193), Dominique Bonneau (144939), Patrizia Amati-Bonneau (144951), Pascal Reynier (92729), Dimitri Krainc (1406062), Guy Lenaers (10199487)

مصطلحات موضوعية: Medicine, Cell Biology, Genetics, Neuroscience, Cancer, Science Policy, Infectious Diseases, Computational Biology, Chemical Sciences not elsewhere classified, Mitochondria dynamics, Mitochondrial disease, MIEF1, Mid51, Dominant optic atrophy (DOA), Inherited optic neuropathy (ION), Peripheral visual field, Neurodegeneration

Relation: https://figshare.com/articles/journal_contribution/Additional_file_1_of_Dominant_mutations_in_MIEF1_affect_mitochondrial_dynamics_and_cause_a_singular_late_onset_optic_neuropathy/14121759

الاتاحة: https://doi.org/10.6084/m9.figshare.14121759.v1

المؤلفون: 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

المصدر: International Journal of Molecular Sciences; Volume 22; Issue 24; Pages: 13294

مصطلحات موضوعية: Usher syndrome, retinitis pigmentosa, hearing loss, MYO7A, USH2A, pathogenic genotype, ACMG classification, deep intronic variant

جغرافية الموضوع: agris

وصف الملف: application/pdf

Relation: Molecular Pathology, Diagnostics, and Therapeutics; https://dx.doi.org/10.3390/ijms222413294

الاتاحة: https://doi.org/10.3390/ijms222413294

المؤلفون: Elise Riquin, Philippe Duverger, Cindy Cariou, Magalie Barth, Clément Prouteau, Patrick Van Bogaert, Dominique Bonneau, Arnaud Roy

المصدر: Frontiers in Psychiatry, Vol 11 (2020)

مصطلحات موضوعية: mitochondrial diseases, children, adolescent, neuropsychological profile, psychiatric profile, Psychiatry, RC435-571

وصف الملف: electronic resource

Relation: https://www.frontiersin.org/article/10.3389/fpsyt.2020.00747/full; https://doaj.org/toc/1664-0640

URL الوصول: https://doaj.org/article/189198e323a04e0980646d1c0c585a8b

المؤلفون: Mio Aerden, Anne-Sophie Denommé-Pichon, Dominique Bonneau, Ange-Line Bruel, Julian Delanne, Bénédicte Gérard, Benoît Mazel, Christophe Philippe, Lucile Pinson, Clément Prouteau, Audrey Putoux, Frédéric Tran Mau-Them, Éléonore Viora-Dupont, Antonio Vitobello, Alban Ziegler, Amélie Piton, Bertrand Isidor, Christine Francannet, Pierre-Yves Maillard, Sophie Julia, Anais Philippe, Elise Schaefer, Saskia Koene, Claudia Ruivenkamp, Mariette Hoffer, Eric Legius, Miel Theunis, Boris Keren, Julien Buratti, Perrine Charles, Thomas Courtin, Mala Misra-Isrie, Mieke van Haelst, Quinten Waisfisz, Dagmar Wieczorek, Ariane Schmetz, Theresia Herget, Fanny Kortüm, Jasmin Lisfeld, François-Guillaume Debray, Nuria C. Bramswig, Isis Atallah, Heidi Fodstad, Guillaume Jouret, Berta Almoguera, Saoud Tahsin-Swafiri, Fernando Santos-Simarro, Maria Palomares-Bralo, Vanesa López-González, Maria Kibaek, Pernille M. Tørring, Alessandra Renieri, Lucia Pia Bruno, Katrin Õunap, Monica Wojcik, Tzung-Chien Hsieh, Peter Krawitz, Hilde Van Esch

المساهمون: Human genetics, Amsterdam Reproduction & Development (AR&D), Amsterdam Neuroscience - Complex Trait Genetics, CCA - Cancer biology and immunology

المصدر: European Journal of Human Genetics, 31(4), 461-468. Nature Publishing Group
Aerden, M, Denommé-Pichon, A-S, Bonneau, D, Bruel, A-L, Delanne, J, Gérard, B N, Mazel, B, Philippe, C, Pinson, L, Prouteau, C, Putoux, A, Tran Mau-Them, F, Viora-Dupont, É, Vitobello, A, Ziegler, A, Piton, A, Isidor, B, Francannet, C, Maillard, P-Y, Julia, S, Philippe, A, Schaefer, E, Koene, S, Ruivenkamp, C, Hoffer, M, Legius, E, Theunis, M, Keren, B, Buratti, J, Charles, P, Courtin, T, Misra-Isrie, M, van Haelst, M, Waisfisz, Q, Wieczorek, D, Schmetz, A, Herget, T, Kortüm, F, Lisfeld, J, Debray, F-G, Bramswig, N C, Atallah, I, Fodstad, H, Jouret, G, Almoguera, B, Tahsin-Swafiri, S, Santos-Simarro, F, Palomares-Bralo, M, López-González, V, Kibaek, M, Tørring, P M, Renieri, A, Bruno, L P, Õunap, K, Wojcik, M, Hsieh, T-C, Krawitz, P & van Esch, H 2023, ' The neurodevelopmental and facial phenotype in individuals with a TRIP12 variant ', European Journal of Human Genetics, vol. 31, no. 4, pp. 461-468 . https://doi.org/10.1038/s41431-023-01307-x

مصطلحات موضوعية: Genetics, Genetics (clinical)

URL الوصول: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::9bd3051ef1e64c7bdec49a7621be4891
https://doi.org/10.1038/s41431-023-01307-x