Zobrazeno 1 - 10
of 239
pro vyhledávání: '"A. Rucheton"'
Autor:
Cécile Rouzier, Emmanuelle Pion, Annabelle Chaussenot, Céline Bris, Samira Ait‐El‐Mkadem Saadi, Valérie Desquiret‐Dumas, Naïg Gueguen, Konstantina Fragaki, Patrizia Amati‐Bonneau, Giulia Barcia, Pauline Gaignard, Julie Steffann, Alessandra Pennisi, Jean‐Paul Bonnefont, Elise Lebigot, Sylvie Bannwarth, Bruno Francou, Benoit Rucheton, Damien Sternberg, Marie‐Laure Martin‐Negrier, Aurélien Trimouille, Gaëlle Hardy, Stéphane Allouche, Cécile Acquaviva‐Bourdain, Cécile Pagan, Anne‐Sophie Lebre, Pascal Reynier, Mireille Cossee, Shahram Attarian, Véronique Paquis‐Flucklinger, MitoDiag's Network Collaborators, Vincent Procaccio
Publikováno v:
Annals of Clinical and Translational Neurology, Vol 11, Iss 6, Pp 1478-1491 (2024)
Abstract Objective The objective of this study was to evaluate the implementation of NGS within the French mitochondrial network, MitoDiag, from targeted gene panels to whole exome sequencing (WES) or whole genome sequencing (WGS) focusing on mitocho
Externí odkaz:
https://doaj.org/article/e4307533a35a473a9b33fb23706ccfa7
Autor:
Desaegher, Anthony, Marin, Victor, Beauvieux, Marie-Christine, Colombiès, Brigitte, Lauga, Margaux, Alloug, Sonia, Kalkan, Selen, Castaing-Mouhica, Gladys, Lacape, Geneviève, Rucheton, Benoit, Doublet, Julien, Dabernat, Sandrine, Bats, Marie-Lise
Publikováno v:
In Clinica Chimica Acta 15 January 2025 565
Autor:
Huin, Vincent, Barbier, Mathieu, Bottani, Armand, Lobrinus, Johannes, Clot, Fabienne, Lamari, Foudil, Chat, Laureen, Rucheton, Benoît, Fluchère, Frédérique, Auvin, Stéphane, Myers, Peter, Gelot, Antoinette, Camuzat, Agnès, Caillaud, Catherine, Jornéa, Ludmila, Forlani, Sylvie, Saracino, Dario, Duyckaerts, Charles, Brice, Alexis, Durr, Alexandra, Ber, Isabelle Le
Publikováno v:
Brain - A Journal of Neurology , Oxford University Press (OUP), 2020, 143 (1), pp.303-319
Homozygous mutations in the progranulin gene (GRN) are associated with neuronal ceroid lipofuscinosis 11 (CLN11), a rare lysosomal-storage disorder characterized by cerebellar ataxia, seizures, retinitis pigmentosa, and cognitive disorders, usually b
Externí odkaz:
http://arxiv.org/abs/2011.10319
Autor:
Khrouf, Walid, Saracino, Dario, Rucheton, Benoit, Houot, Marion, Clot, Fabienne, Rinaldi, Daisy, Vitor, Joana, Huynh, Marie, Heng, Evelyne, Schlemmer, Dimitri, Pasquier, Florence, Deramecourt, Vincent, Auriacombe, Sophie, Azuar, Carole, Levy, Richard, Bombois, Stéphanie, Boutoleau-Brétonnière, Claire, Pariente, Jérémie, Didic, Mira, Wallon, David, Fluchère, Frédérique, Auvin, Stéphane, Younes, Imen Ben, Nadjar, Yann, Brice, Alexis, Dubois, Bruno, Bonnefont-Rousselot, Dominique, Le Ber, Isabelle, Lamari, Foudil
Publikováno v:
In Neurobiology of Disease 1 June 2023 181
Publikováno v:
In Energy Policy February 2023 173
Akademický článek
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Autor:
Walid Khrouf, Dario Saracino, Benoit Rucheton, Marion Houot, Fabienne Clot, Daisy Rinaldi, Joana Vitor, Marie Huynh, Evelyne Heng, Dimitri Schlemmer, Florence Pasquier, Vincent Deramecourt, Sophie Auriacombe, Carole Azuar, Richard Levy, Stéphanie Bombois, Claire Boutoleau-Brétonnière, Jérémie Pariente, Mira Didic, David Wallon, Frédérique Fluchère, Stéphane Auvin, Imen Ben Younes, Yann Nadjar, Alexis Brice, Bruno Dubois, Dominique Bonnefont-Rousselot, Isabelle Le Ber, Foudil Lamari
Publikováno v:
Neurobiology of Disease, Vol 181, Iss , Pp 106108- (2023)
GRN mutations are among the main genetic causes of frontotemporal dementia (FTD). Considering the progranulin involvement in lysosomal homeostasis, we aimed to evaluate if plasma lysosphingolipids (lysoSPL) are increased in GRN mutation carriers, and
Externí odkaz:
https://doaj.org/article/74d41b87d2e9459a8fa3e729c04253b6
Publikováno v:
In Neuromuscular Disorders December 2022 32(11-12):923-930
Autor:
Constance Delaby, Olivier Bousiges, Damien Bouvier, Catherine Fillée, Anthony Fourier, Etienne Mondésert, Nicolas Nezry, Souheil Omar, Isabelle Quadrio, Benoit Rucheton, Susanna Schraen-Maschke, Vincent van Pesch, Stéphanie Vicca, Sylvain Lehmann, Aurelie Bedel
Publikováno v:
Frontiers in Aging Neuroscience, Vol 14 (2022)
Neurological biomarkers are particularly valuable to clinicians as they can be used for diagnosis, prognosis, or response to treatment. This field of neurology has evolved considerably in recent years with the improvement of analytical methods, allow
Externí odkaz:
https://doaj.org/article/b931b35796fd4807bbef259aa2ce127f
Autor:
Boutin, Julian, Bats, Marie-Lise, Amintas, Samuel, Bérard, Annie, Dabernat, Sandrine, Colombies, Brigitte, Rucheton, Benoit, Bedel, Aurélie
Publikováno v:
In Clinica Chimica Acta November 2020 510:54-59