A Microservices-Based Control Plane for Time-Sensitive Networking
Agustí-Torra, Anna, Ferré-Mancebo, Marc, Orozco-Urrutia, Gabriel David, Rincón-Rivera, David, Remondo, David
Published in Future internet (01.04.2024)
Published in Future internet (01.04.2024)
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Hereditary optic neuropathies share a common mitochondrial coupling defect
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Published in Annals of neurology (01.06.2008)
Published in Annals of neurology (01.06.2008)
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Idebenone increases mitochondrial complex I activity in fibroblasts from LHON patients while producing contradictory effects on respiration
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Published in BMC research notes (22.12.2011)
Published in BMC research notes (22.12.2011)
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OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database
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Published in Orphanet journal of rare diseases (10.09.2019)
Published in Orphanet journal of rare diseases (10.09.2019)
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Genetic susceptibility to optic neuropathy in patients with alcohol use disorder
Delibes, Camille, Ferré, Marc, Rozet, Marine, Desquiret-Dumas, Valérie, Descatha, Alexis, Gohier, Bénédicte, Gohier, Philippe, Amati-Bonneau, Patrizia, Milea, Dan, Reynier, Pascal
Published in Journal of translational medicine (25.05.2024)
Published in Journal of translational medicine (25.05.2024)
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Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation
Villatoro, Alicia, Cuminetti, Vincent, Bernal, Aurora, Torroja, Carlos, Cossío, Itziar, Benguría, Alberto, Ferré, Marc, Konieczny, Joanna, Vázquez, Enrique, Rubio, Andrea, Utnes, Peter, Tello, Almudena, You, Xiaona, Fenton, Christopher G., Paulssen, Ruth H., Zhang, Jing, Sánchez-Cabo, Fátima, Dopazo, Ana, Vik, Anders, Anderssen, Endre, Hidalgo, Andrés, Arranz, Lorena
Published in Nature communications (03.01.2023)
Published in Nature communications (03.01.2023)
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Loss-of-Function Mutations in WDR73 Are Responsible for Microcephaly and Steroid-Resistant Nephrotic Syndrome: Galloway-Mowat Syndrome
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
Published in American journal of human genetics (04.12.2014)
Published in American journal of human genetics (04.12.2014)
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Resveratrol Induces a Mitochondrial Complex I-dependent Increase in NADH Oxidation Responsible for Sirtuin Activation in Liver Cells
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
Published in The Journal of biological chemistry (20.12.2013)
Published in The Journal of biological chemistry (20.12.2013)
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Neurotoxicity of Insecticides
Cassereau, Julien, Ferré, Marc, Chevrollier, Arnaud, Codron, Philippe, Verny, Christophe, Homedan, Chadi, Lenaers, Guy, Procaccio, Vincent, May-Panloup, Pascale, Reynier, Pascal
Published in Current medicinal chemistry (01.08.2017)
Published in Current medicinal chemistry (01.08.2017)
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The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Rocatcher, Aude, Desquiret-Dumas, Valérie, Charif, Majida, Ferré, Marc, Gohier, Philippe, Mirebeau-Prunier, Delphine, Verny, Christophe, Milea, Dan, Lenaers, Guy, Bonneau, Dominique, Reynier, Pascal, Amati-Bonneau, Patrizia
Published in Brain (London, England : 1878) (13.02.2023)
Published in Brain (London, England : 1878) (13.02.2023)
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OPA1 -related disorders: Diversity of clinical expression, modes of inheritance and pathophysiology
Chao de la Barca, Juan Manuel, Prunier-Mirebeau, Delphine, Amati-Bonneau, Patrizia, Ferré, Marc, Sarzi, Emmanuelle, Bris, Céline, Leruez, Stéphanie, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Gueguen, Naïg, Verny, Christophe, Hamel, Christian, Miléa, Dan, Procaccio, Vincent, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal
Published in Neurobiology of disease (01.06.2016)
Published in Neurobiology of disease (01.06.2016)
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NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome
Billiet, Benjamin, Amati‐Bonneau, Patrizia, Desquiret‐Dumas, Valérie, Guehlouz, Khadidja, Milea, Dan, Gohier, Philippe, Lenaers, Guy, Mirebeau‐Prunier, Delphine, den Dunnen, Johan T., Reynier, Pascal, Ferré, Marc
Published in Human mutation (01.02.2022)
Published in Human mutation (01.02.2022)
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OPA1-associated disorders: Phenotypes and pathophysiology
Amati-Bonneau, Patrizia, Milea, Dan, Bonneau, Dominique, Chevrollier, Arnaud, Ferré, Marc, Guillet, Virginie, Gueguen, Naïg, Loiseau, Dominique, Crescenzo, Marie-Anne Pou de, Verny, Christophe, Procaccio, Vincent, Lenaers, Guy, Reynier, Pascal
Published in The international journal of biochemistry & cell biology (01.10.2009)
Published in The international journal of biochemistry & cell biology (01.10.2009)
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Early-onset Behr syndrome due to compound heterozygous mutations in OPA1
Bonneau, Dominique, Colin, Estelle, Oca, Florine, Ferré, Marc, Chevrollier, Arnaud, Guéguen, Naïg, Desquiret-Dumas, Valérie, N'Guyen, Sylvie, Barth, Magalie, Zanlonghi, Xavier, Rio, Marlène, Desguerre, Isabelle, Barnerias, Christine, Momtchilova, Marta, Rodriguez, Diana, Slama, Abdelhamid, Lenaers, Guy, Procaccio, Vincent, Amati-Bonneau, Patrizia, Reynier, Pascal
Published in Brain (London, England : 1878) (01.10.2014)
Published in Brain (London, England : 1878) (01.10.2014)
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Dominant Optic Atrophy: How to Determine the Pathogenicity of Novel Variants?
Zehden, Jason A, Raviskanthan, Subahari, Mortensen, Peter W, Ferré, Marc, Reynier, Pascal, Milea, Dan, Lee, Andrew G
Published in Journal of neuro-ophthalmology (01.06.2022)
Published in Journal of neuro-ophthalmology (01.06.2022)
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Author Correction: Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation
Villatoro, Alicia, Cuminetti, Vincent, Bernal, Aurora, Torroja, Carlos, Cossío, Itziar, Benguría, Alberto, Ferré, Marc, Konieczny, Joanna, Vázquez, Enrique, Rubio, Andrea, Utnes, Peter, Tello, Almudena, You, Xiaona, Fenton, Christopher G., Paulssen, Ruth H., Zhang, Jing, Sánchez-Cabo, Fátima, Dopazo, Ana, Vik, Anders, Anderssen, Endre, Hidalgo, Andrés, Arranz, Lorena
Published in Nature communications (30.06.2023)
Published in Nature communications (30.06.2023)
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A Plasma Metabolomic Signature Involving Purine Metabolism in Human Optic Atrophy 1 (OPA1)-Related Disorders
Bocca, Cinzia, Kouassi Nzoughet, Judith, Leruez, Stéphanie, Amati-Bonneau, Patrizia, Ferré, Marc, Kane, Mariame-Selma, Veyrat-Durebex, Charlotte, Chao de la Barca, Juan Manuel, Chevrollier, Arnaud, Homedan, Chadi, Verny, Christophe, Miléa, Dan, Procaccio, Vincent, Simard, Gilles, Bonneau, Dominique, Lenaers, Guy, Reynier, Pascal
Published in Investigative ophthalmology & visual science (01.01.2018)
Published in Investigative ophthalmology & visual science (01.01.2018)
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Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data
Ferré, Marc, Caignard, Angélique, Milea, Dan, Leruez, Stéphanie, Cassereau, Julien, Chevrollier, Arnaud, Amati-Bonneau, Patrizia, Verny, Christophe, Bonneau, Dominique, Procaccio, Vincent, Reynier, Pascal
Published in Human mutation (01.01.2015)
Published in Human mutation (01.01.2015)
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The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress
Chao de la Barca, Juan Manuel, Simard, Gilles, Amati-Bonneau, Patrizia, Safiedeen, Zainab, Prunier-Mirebeau, Delphine, Chupin, Stéphanie, Gadras, Cédric, Tessier, Lydie, Gueguen, Naïg, Chevrollier, Arnaud, Desquiret-Dumas, Valérie, Ferré, Marc, Bris, Céline, Kouassi Nzoughet, Judith, Bocca, Cinzia, Leruez, Stéphanie, Verny, Christophe, Miléa, Dan, Bonneau, Dominique, Lenaers, Guy, Martinez, M Carmen, Procaccio, Vincent, Reynier, Pascal
Published in Brain (London, England : 1878) (01.11.2016)
Published in Brain (London, England : 1878) (01.11.2016)
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Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations
Ferré, Marc, Bonneau, Dominique, Milea, Dan, Chevrollier, Arnaud, Verny, Christophe, Dollfus, Hélène, Ayuso, Carmen, Defoort, Sabine, Vignal, Catherine, Zanlonghi, Xavier, Charlin, Jean-Francois, Kaplan, Josseline, Odent, Sylvie, Hamel, Christian P., Procaccio, Vincent, Reynier, Pascal, Amati-Bonneau, Patrizia
Published in Human mutation (01.07.2009)
Published in Human mutation (01.07.2009)
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