Found: 20

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  • Endogenous IL-1 receptor antagonist restricts healthy and malignant myeloproliferation.

    Published in:
    Nature Communications, 2023, v. 14, n. 1, p. 1, doi. 10.1038/s41467-022-35700-9
    By:
    • Villatoro, Alicia;
    • Cuminetti, Vincent;
    • Bernal, Aurora;
    • Torroja, Carlos;
    • Cossío, Itziar;
    • Benguría, Alberto;
    • Ferré, Marc;
    • Konieczny, Joanna;
    • Vázquez, Enrique;
    • Rubio, Andrea;
    • Utnes, Peter;
    • You, Xiaona;
    • Fenton, Christopher G.;
    • Paulssen, Ruth H.;
    • Zhang, Jing;
    • Sánchez-Cabo, Fátima;
    • Dopazo, Ana;
    • Vik, Anders;
    • Anderssen, Endre;
    • Hidalgo, Andrés
    Publication type:
    Article

  • OPA1: 516 unique variants and 831 patients registered in an updated centralized Variome database.

    Published in:
    2019
    By:
    • Le Roux, Bastien;
    • Lenaers, Guy;
    • Zanlonghi, Xavier;
    • Amati-Bonneau, Patrizia;
    • Chabrun, Floris;
    • Foulonneau, Thomas;
    • Caignard, Angélique;
    • Leruez, Stéphanie;
    • Gohier, Philippe;
    • Procaccio, Vincent;
    • Milea, Dan;
    • den Dunnen, Johan T.;
    • Reynier, Pascal;
    • Ferré, Marc
    Publication type:
    journal article

  • The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands.

    Published in:
    2023
    By:
    • Rocatcher, Aude;
    • Desquiret-Dumas, Valérie;
    • Charif, Majida;
    • Ferré, Marc;
    • Gohier, Philippe;
    • Mirebeau-Prunier, Delphine;
    • Verny, Christophe;
    • Milea, Dan;
    • Lenaers, Guy;
    • Group, HON Collaborators;
    • Bonneau, Dominique;
    • Reynier, Pascal;
    • Amati-Bonneau, Patrizia;
    • HON Collaborators Group
    Publication type:
    journal article

  • The metabolomic signature of Leber's hereditary optic neuropathy reveals endoplasmic reticulum stress.

    Published in:
    2016
    By:
    • de la Barca, Juan Manuel Chao;
    • 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;
    • Nzoughet, Judith Kouassi;
    • Bocca, Cinzia;
    • Leruez, Stéphanie;
    • Verny, Christophe;
    • Miléa, Dan;
    • Bonneau, Dominique;
    • Lenaers, Guy
    Publication type:
    journal article

  • Genetic susceptibility to optic neuropathy in patients with alcohol use disorder.

    Published in:
    Journal of Translational Medicine, 2024, v. 22, n. 1, p. 1, doi. 10.1186/s12967-024-05334-0
    By:
    • Delibes, Camille;
    • Ferré, Marc;
    • Rozet, Marine;
    • Desquiret-Dumas, Valérie;
    • Descatha, Alexis;
    • Gohier, Bénédicte;
    • Gohier, Philippe;
    • Amati-Bonneau, Patrizia;
    • Milea, Dan;
    • Reynier, Pascal
    Publication type:
    Article

  • Are zona pellucida genes involved in recurrent oocyte lysis observed during in vitro fertilization?

    Published in:
    Journal of Assisted Reproduction & Genetics, 2014, v. 31, n. 2, p. 221, doi. 10.1007/s10815-013-0141-8
    By:
    • Ferré, Marc;
    • Amati-Bonneau, Patrizia;
    • Morinière, Catherine;
    • Ferré-L'Hôtellier, Véronique;
    • Lemerle, Sophie;
    • Przyrowski, Daniel;
    • Procaccio, Vincent;
    • Descamps, Philippe;
    • Reynier, Pascal;
    • May-Panloup, Pascale
    Publication type:
    Article

  • Deep learning shows nomorphological abnormalities in neutrophils in Alzheimer’s disease.

    Published in:
    Alzheimer's & Dementia: Diagnosis, Assessment & Disease Monitoring, 2021, v. 13, n. 1, p. 1, doi. 10.1002/dad2.12146
    By:
    • Chabrun, Floris;
    • Dieu, Xavier;
    • Doudeau, Nicolas;
    • Gautier, Jennifer;
    • Luque-Paz, Damien;
    • Geneviève, Franck;
    • Ferré, Marc;
    • Mirebeau-Prunier, Delphine;
    • Annweiler, Cédric;
    • Reynier, Pascal
    Publication type:
    Article

  • A Microservices-Based Control Plane for Time-Sensitive Networking.

    Published in:
    Future Internet, 2024, v. 16, n. 4, p. 120, doi. 10.3390/fi16040120
    By:
    • Agustí-Torra, Anna;
    • Ferré-Mancebo, Marc;
    • Orozco-Urrutia, Gabriel David;
    • Rincón-Rivera, David;
    • Remondo, David
    Publication type:
    Article

  • Is ABCC6 a genuine mitochondrial protein?

    Published in:
    BMC Research Notes, 2013, v. 6, n. 1, p. 1, doi. 10.1186/1756-0500-6-427
    By:
    • Ferré, Marc;
    • Reynier, Pascal;
    • Chevrollier, Arnaud;
    • Prunier-Mirebeau, Delphine;
    • Lefthériotis, Georges;
    • Henrion, Daniel;
    • Bonneau, Dominique;
    • Procaccio, Vincent;
    • Martin, Ludovic
    Publication type:
    Article

  • Molecular screening of 980 cases of suspected hereditary optic neuropathy with a report on 77 novel OPA1 mutations.

    Published in:
    Human Mutation, 2009, v. 30, n. 7, p. E692, doi. 10.1002/humu.21025
    By:
    • 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
    Publication type:
    Article

  • eOPA1: An online database for OPA1 mutations.

    Published in:
    Human Mutation, 2005, v. 25, n. 5, p. 423, doi. 10.1002/humu.20161
    By:
    • Ferré, Marc;
    • Amati-Bonneau, Patrizia;
    • Tourmen, Yves;
    • Malthièry, Yves;
    • Reynier, Pascal
    Publication type:
    Article

  • Early-onset Behr syndrome due to compound heterozygous mutations in OPA1.

    Published in:
    Brain: A Journal of Neurology, 2014, v. 137, n. 10, p. e301, doi. 10.1093/brain/awu184
    By:
    • 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
    Publication type:
    Article

  • Sensorineural hearing loss in OPA1-linked disorders.

    Published in:
    Brain: A Journal of Neurology, 2013, v. 136, n. 7, p. e236, doi. 10.1093/brain/aws340
    By:
    • Leruez, Stéphanie;
    • Milea, Dan;
    • Defoort-Dhellemmes, Sabine;
    • Colin, Estelle;
    • Crochet, Martine;
    • Procaccio, Vincent;
    • Ferré, Marc;
    • Lamblin, Julie;
    • Drouin, Valérie;
    • Vincent-Delorme, Catherine;
    • Lenaers, Guy;
    • Hamel, Christian;
    • Blanchet, Catherine;
    • Juul, Gitte;
    • Larsen, Michael;
    • Verny, Christophe;
    • Reynier, Pascal;
    • Amati-Bonneau, Patrizia;
    • Bonneau, Dominique
    Publication type:
    Article

  • NR2F1 database: 112 variants and 84 patients support refining the clinical synopsis of Bosch–Boonstra–Schaaf optic atrophy syndrome.

    Published in:
    Human Mutation, 2022, v. 43, n. 2, p. 128, doi. 10.1002/humu.24305
    By:
    • 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
    Publication type:
    Article

  • Improved Locus-Specific Database for OPA1 Mutations Allows Inclusion of Advanced Clinical Data.

    Published in:
    Human Mutation, 2015, v. 36, n. 1, p. 20, doi. 10.1002/humu.22703
    By:
    • Ferré, Marc;
    • Caignard, Angélique;
    • Milea, Dan;
    • Leruez, Stéphanie;
    • Cassereau, Julien;
    • Chevrollier, Arnaud;
    • Amati‐Bonneau, Patrizia;
    • Verny, Christophe;
    • Bonneau, Dominique;
    • Procaccio, Vincent;
    • Reynier, Pascal
    Publication type:
    Article

  • A Tear Metabolomic Profile Showing Increased Ornithine Decarboxylase Activity and Spermine Synthesis in Thyroid-Associated Orbitopathy.

    Published in:
    Journal of Clinical Medicine, 2022, v. 11, n. 2, p. 404, doi. 10.3390/jcm11020404
    By:
    • Billiet, Benjamin;
    • Chao de la Barca, Juan Manuel;
    • Ferré, Marc;
    • Muller, Jeanne;
    • Vautier, Anaïs;
    • Assad, Sophie;
    • Blanchet, Odile;
    • Tessier, Lydie;
    • Wetterwald, Céline;
    • Faure, Justine;
    • Urbanski, Geoffrey;
    • Simard, Gilles;
    • Mirebeau-Prunier, Delphine;
    • Rodien, Patrice;
    • Gohier, Philippe;
    • Reynier, Pascal
    Publication type:
    Article

  • A Plasma Metabolomic Profiling of Exudative Age-Related Macular Degeneration Showing Carnosine and Mitochondrial Deficiencies.

    Published in:
    Journal of Clinical Medicine, 2020, v. 9, n. 3, p. 631, doi. 10.3390/jcm9030631
    By:
    • Chao de la Barca, Juan M.;
    • Rondet-Courbis, Barnabé;
    • Ferré, Marc;
    • Muller, Jeanne;
    • Buisset, Adrien;
    • Leruez, Stéphanie;
    • Plubeau, Guillaume;
    • Macé, Thibaut;
    • Moureauzeau, Laurie;
    • Chupin, Stéphanie;
    • Tessier, Lydie;
    • Blanchet, Odile;
    • Lenaers, Guy;
    • Procaccio, Vincent;
    • Mirebeau-Prunier, Delphine;
    • Simard, Gilles;
    • Gohier, Philippe;
    • Miléa, Dan;
    • Reynier, Pascal
    Publication type:
    Article

  • ACO2 clinicobiological dataset with extensive phenotype ontology annotation.

    Published in:
    Scientific Data, 2021, v. 8, n. 1, p. 1, doi. 10.1038/s41597-021-00984-x
    By:
    • Guehlouz, Khadidja;
    • Foulonneau, Thomas;
    • Amati-Bonneau, Patrizia;
    • Charif, Majida;
    • Colin, Estelle;
    • Bris, Céline;
    • Desquiret-Dumas, Valérie;
    • Milea, Dan;
    • Gohier, Philippe;
    • Procaccio, Vincent;
    • Bonneau, Dominique;
    • den Dunnen, Johan T.;
    • Lenaers, Guy;
    • Reynier, Pascal;
    • Ferré, Marc
    Publication type:
    Article

  • Reversible optic neuropathy with OPA1 exon 5b mutation.

    Published in:
    Annals of Neurology, 2008, v. 63, n. 5, p. 667, doi. 10.1002/ana.21376
    By:
    • Cornille, Karen;
    • Milea, Dan;
    • Amati-Bonneau, Patrizia;
    • Procaccio, Vincent;
    • Zazoun, Lydie;
    • Guillet, Virginie;
    • El Achouri, Ghizlane;
    • Delettre, Cécile;
    • Gueguen, Naïg;
    • Loiseau, Dominique;
    • Muller, Agnès;
    • Ferré, Marc;
    • Chevrollier, Arnaud;
    • Wallace, Douglas C.;
    • Bonneau, Dominique;
    • Hamel, Christian;
    • Reynier, Pascal;
    • Lenaers, Guy
    Publication type:
    Article

  • Mitochondrial coupling defect in Charcot–Marie–Tooth type 2A disease.

    Published in:
    Annals of Neurology, 2007, v. 61, n. 4, p. 315, doi. 10.1002/ana.21086
    By:
    • Dominique Loiseau;
    • Arnaud Chevrollier;
    • Christophe Verny;
    • Virginie Guillet;
    • Naïg Gueguen;
    • Marie‐Anne Pou De Crescenzo;
    • Marc Ferré;
    • Marie‐Claire Malinge;
    • Agnès Guichet;
    • Guillaume Nicolas;
    • Patrizia Amati‐Bonneau;
    • Yves Malthièry;
    • Dominique Bonneau;
    • Pascal Reynier
    Publication type:
    Article