Bilaketaren emaitzak - Luís Seabra

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  1. 1
    Baricitinib Treatment in <scp>RNU7</scp>‐1‐Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report

    Baricitinib Treatment in <scp>RNU7</scp>‐1‐Associated Aicardi–Goutières Syndrome in a South African Child: A Case Report nork Timothy F. Spracklen, Shehnaaz Akhalwaya, Sally Ackermann, Carolina Uggenti, Luís Seabra, Yanick J. Crow, Kate Webb

    Argitaratua 2025
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  2. 2
    Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype

    Type 1 interferonopathy presenting as juvenile idiopathic arthritis with interstitial lung disease: report of a new phenotype nork Sarah L. N. Clarke, Lindsay Robertson, Grace E. Rice, Luís Seabra, Tom Hilliard, Yanick J. Crow, Athimalaipet V Ramanan

    Argitaratua 2020
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  3. 3
    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A nork Alice Lepelley, Erika Della Mina, Erika Van Nieuwenhove, Lise Waumans, Sylvie Fraïtag, Gillian Rice, Ashish Dhir, Marie‐Louise Frémond, Mathieu P. Rodero, Luís Seabra, Edwin Carter, Christine Bodemer, Daniela Buhaş, Bert Callewaert, Pascale de Lonlay, Lien De Somer, David A. Dyment, Fran Faes, Lucy Grove, Simon Holden, Marie Hully, Manju A. Kurian, Hugh J. McMillan, Kristin Suetens, Henna Tyynismaa, Stéphanie Chhun, Timothy Wai, Carine Wouters, Brigitte Bader‐Meunier, Yanick J. Crow

    Argitaratua 2021
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  4. 4
    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus

    Gain-of-function human <i>UNC93B1</i> variants cause systemic lupus erythematosus and chilblain lupus nork C. David, Carlos A. Arango-Franco, Mihaly Badonyi, Julien Fouchet, Gillian Rice, Blaise Didry‐Barca, L. Maisonneuve, Luís Seabra, Robin Kechiche, Cécile Masson, Aurélie Cobat, Laurent Abel, Estelle Talouarn, Vivien Béziat, Caroline Deswarte, Katie Livingstone, C. Paul, G. R. Malik, Alison Ross, Jane Adam, Jo Walsh, Sathish Kumar, Damien Bonnet, Christine Bodemer, Brigitte Bader‐Meunier, Joseph A. Marsh, Jean‐Laurent Casanova, Yanick J. Crow, Bénédicte Manoury, Marie‐Louise Frémond, Jonathan Bohlen, Alice Lepelley

    Argitaratua 2024
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  5. 5
    Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling

    Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling nork Alice Lepelley, Maria José Martin-Niclós, Melvin Le Bihan, Joseph A. Marsh, Carolina Uggenti, Gillian Rice, Vincent Bondet, Darragh Duffy, Jonny Hertzog, Jan Rehwinkel, Serge Amselem, Siham Boulisfane-El Khalifi, Mary Brennan, Edwin Carter, Lucienne Chatenoud, Stéphanie Chhun, Aurore Coulomb‐L'Herminé, Marine Depp, Marie Legendre, Karen J. Mackenzie, Jonathan Marey, Catherine M. McDougall, Kathryn J. McKenzie, Thierry Jo Molina, Bénédicte Neven, Luís Seabra, C. Thumerelle, Marie Wislez, Nadia Nathan, Nicolas Manel, Yanick J. Crow, Marie‐Louise Frémond

    Argitaratua 2020
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  6. 6
    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome

    Reverse-Transcriptase Inhibitors in the Aicardi–Goutières Syndrome nork Gillian Rice, Candice Meyzer, Naïm Bouazza, Marie Hully, Nathalie Boddaert, Michaëla Semeraro, Leo Zeef, Flore Rozenberg, Vincent Bondet, Darragh Duffy, Alba Llibre, Jinmi Baek, Mame N Sambe, Elodie Henry, Valérie Jolaine, Christine Barnérias, Magalie Barth, Alexandre Bélot, Claude Cancès, François‐Guillaume Debray, Diane Doummar, Marie‐Louise Frémond, Naoki Kitabayashi, Alice Lepelley, Virginie Levrat, Isabelle Melki, Pierre Meyer, Marie‐Christine Nouguès, Florence Renaldo, Mathieu P. Rodero, Diana Rodriguez, Agathe Roubertie, Luís Seabra, Carolina Uggenti, Hendy Abdoul, Jean‐Marc Tréluyer, Isabelle Desguerre, Stéphane Blanche, Yanick J. Crow

    Argitaratua 2018
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  7. 7
    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study

    JAK Inhibition in Aicardi-Goutières Syndrome: a Monocentric Multidisciplinary Real-World Approach Study nork Marie‐Louise Frémond, Marie Hully, Benjamin Fournier, Rémi Barrois, Romain Lévy, Mélodie Aubart, Martin Castelle, Delphine Chabalier, Clarisse Gins, Eugénie Sarda, Buthaina Al Adba, Sophie Couderc, Carla Almeida, Claire‐Marine Bérat, Chloé Durrleman, Caroline Espil, Laëtitia Lambert, C. Méni, Maximilien Périvier, Pascal Pillet, Laura Polivka, Manuel Schiff, Calina Todosi, Florence Uettwiller, Alice Lepelley, Gillian Rice, Luís Seabra, Sylvia Sanquer, Anne Hulin, Claire Pressiat, Lauriane Goldwirt, Vincent Bondet, Darragh Duffy, Despina Moshous, Brigitte Bader‐Meunier, Christine Bodemer, Florence Robin-Renaldo, Nathalie Boddaert, Stéphane Blanche, Isabelle Desguerre, Yanick J. Crow, Bénédicte Neven

    Argitaratua 2023
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  8. 8
    Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients

    Overview of STING-Associated Vasculopathy with Onset in Infancy (SAVI) Among 21 Patients nork Marie‐Louise Frémond, Alice Hadchouel, Laureline Berteloot, Isabelle Melki, Violaine Bresson, Laura Barnabei, Nadia Jeremiah, Alexandre Bélot, Vincent Bondet, Olivier Brocq, Damien Chan, Rawane Dagher, J.‐C. Dubus, Darragh Duffy, Séverine Feuillet-Soummer, Mathieu Fusaro, Marco Gattorno, Antonella Insalaco, Éric Jeziorski, Naoki Kitabayashi, Mireia López-Corbeto, Françoise Mazingue, Marie‐Anne Morren, Gillian Rice, Jacques G. Rivière, Luís Seabra, Jérôme Sirvente, Pere Soler‐Palacín, Nathalie Stremler-Le Bel, Guillaume Thouvenin, C. Thumerelle, Eline van Aerde, Stefano Volpi, Sophie Willcocks, Carine Wouters, Sylvain Breton, Thierry Jo Molina, Brigitte Bader‐Meunier, Despina Moshous, Alain Fischer, Stéphane Blanche, Frédéric Rieux‐Laucat, Yanick J. Crow, Bénédicte Neven

    Argitaratua 2020
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  9. 9
    Type I interferon-mediated autoinflammation due to DNase II deficiency

    Type I interferon-mediated autoinflammation due to DNase II deficiency nork Mathieu P. Rodero, Alessandra Tesser, Eva Bartok, Gillian Rice, Erika Della Mina, Marine Depp, Benoît Beitz, Vincent Bondet, Nicolas Cagnard, Darragh Duffy, Michaël Dussiot, Marie‐Louise Frémond, Marco Gattorno, Flavia Guillem, Naoki Kitabayashi, Fabrice Porcheray, Frédéric Rieux‐Laucat, Luís Seabra, Carolina Uggenti, Stefano Volpi, Leo Zeef, Marie-Alexandra Alyanakian, Jacques Beltrand, Anna Monica Bianco, Nathalie Boddaert, Chantal Brouzes, Sophie Candon, Roberta Caorsi, Marina Charbit, Monique Fabrè, Flavio Faletra, M Girard, Annie Harroche, Evelyn Hartmann, Dominique Lasne, Annalisa Marcuzzi, Bénédicte Neven, Patrick Nitschké, Tiffany Pascreau, Serena Pastore, Capucine Pïcard, Paolo Picco, Elisa Piscianz, Michel Polak, Pierre Quartier, Marion Rabant, Gabriele Stocco, Andrea Taddio, Florence Uettwiller, Erica Valencic, Diego Vozzi, Gunther Hartmann, Winfried Barchet, Olivier Hermine, Brigitte Bader‐Meunier, Alberto Tommasini, Yanick J. Crow

    Argitaratua 2017
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  10. 10
    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing

    cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing nork Carolina Uggenti, Alice Lepelley, Marine Depp, Andrew P. Badrock, Mathieu P. Rodero, Marie‐Thérèse El‐Daher, Gillian Rice, Somdutta Dhir, Ann P. Wheeler, Ashish Dhir, Waad Albawardi, Marie‐Louise Frémond, Luís Seabra, Jennifer Doig, Natalie Blair, Maria José Martin-Niclós, Erika Della Mina, Alejandro Rubio-Roldán, José L. García-Pérez, Duncan Sproul, Jan Rehwinkel, Jonny Hertzog, Anne Boland, Robert Olaso, Jean‐François Deleuze, Julien Baruteau, Karine Brochard, Jonathan D. Buckley, Vanessa Cavallera, Cristina Cereda, Liesbeth M. H. De Waele, Angus Dobbie, Diane Doummar, Frances Elmslie, Margarete Koch‐Hogrebe, Ram Kumar, Kate Lamb, John H. Livingston, Anirban Majumdar, Charles Marques Lorenço, Simona Orcesi, Sylviane Peudenier, Kevin Rostásy, Caroline A. Salmon, Christiaan Scott, Davide Tonduti, Guy Touati, Marialuisa Valente, Hélio van der Linden, Hilde Van Esch, Marie Vermelle, Kate Webb, Andrew P. Jackson, Martin A.M. Reijns, Nick Gilbert, Yanick J. Crow

    Argitaratua 2020
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  11. 11
    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications

    Biallelic NAA60 variants with impaired N-terminal acetylation capacity cause autosomal recessive primary familial brain calcifications nork Viorica Chelban, Henriette Aksnes, Reza Maroofian, Lauren C. LaMonica, Luís Seabra, Anette Siggervåg, Perrine Devic, Hanan E. Shamseldin, Jana Vandrovcová, David Murphy, Anne‐Claire Richard, Olivier Quenez, Antoine Bonnevalle, M. Natalia Zanetti, Rauan Kaiyrzhanov, Vincenzo Salpietro, Stéphanie Efthymiou, Lucía Schottlaender, Heba Morsy, Annarita Scardamaglia, Gerome Breen, Alistair T. Pagnamenta, Ajia Pennavaria, Liv S Krogstad, Åse K. Bekkelund, Alessia Caiella, Nina Glomnes, Kirsten Brønstad, Sandrine Tury, Andrés Moreno-De-Luca, Anne Boland, Robert Olaso, Jean‐François Deleuze, Mathieu Anheim, Benjamin Cretin, Barbara Vona, Fahad Al-Ajlan, Firdous Abdulwahab, Jean‐Luc Battini, Rojan İpek, Peter Bauer, Giovanni Zifarelli, Serdal Güngör, Semra Hız Kurul, Hanns Lochmüller, Sahar I. Da’as, Khalid A. Fakhro, Alicia Gómez-Pascual, Juan A. Botía, Nicholas Wood, Rita Horváth, Andreas M. Ernst, James E. Rothman, Meriel McEntagart, Yanick J. Crow, Fowzan S. Alkuraya, Gaël Nicolas, Thomas Arnesen, Henry Houlden

    Argitaratua 2024
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  12. 12
    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function

    Genetic and phenotypic spectrum associated with IFIH1 gain‐of‐function nork Gillian Rice, Sehoon Park, Francesco Gavazzi, Laura Adang, Loveline A. Ayuk, Lien Van Eyck, Luís Seabra, Christophe Barrea, Roberta Battini, Alexandre Bélot, Stefan Berg, Thierry Billette de Villemeur, Annette Bley, Lubov Blumkin, Odile Boespflug‐Tanguy, Tracy A. Briggs, Elise Brimble, Russell C. Dale, Niklas Darín, François‐Guillaume Debray, Valentina De Giorgis, Jonas Denecke, Diane Doummar, Gunilla Drake af Hagelsrum, Despina Eleftheriou, Margherita Estienne, Elisa Fazzi, François Feillet, Jessica Galli, Nicholas Hartog, Julie Harvengt, Bénédicte Héron, Delphine Héron, D. Kelly, Dorit Lev, Virginie Levrat, John H. Livingston, Itxaso Martí, Cyril Mignot, Fanny Mochel, Marie‐Christine Nouguès, Ilena Oppermann, Belén Pérez‐Dueñas, Bernt Popp, Mathieu P. Rodero, Diana Rodriguez, Veronica Saletti, C. M. SHARPE, Davide Tonduti, Gayatri Vadlamani, Keith Van Haren, Miguel Tomás Vila, Julie Vogt, Evangeline Wassmer, Arnaud Wiedemann, Callum Wilson, Ayelet Zerem, Christiane Zweier, Sameer M. Zuberi, Simona Orcesi, Adeline Vanderver, Sun Hur, Yanick J. Crow

    Argitaratua 2020
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