檢索結果 - Marie‐Louise Frémond

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  1. 1
    Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI)

    Lung Inflammation in STING-Associated Vasculopathy with Onset in Infancy (SAVI) 由 C. David, Marie‐Louise Frémond

    出版 2022
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  2. 2
    STING-Mediated Lung Inflammation and Beyond

    STING-Mediated Lung Inflammation and Beyond 由 Marie‐Louise Frémond, Yanick J. Crow

    出版 2021
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  3. 3
    Interferonopathies: From concept to clinical practice

    Interferonopathies: From concept to clinical practice 由 Leonardo Oliveira Mendonça, Marie‐Louise Frémond

    出版 2024
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  4. 4
    Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity

    Emerging Place of JAK Inhibitors in the Treatment of Inborn Errors of Immunity 由 Jérôme Hadjadj, Marie‐Louise Frémond, Bénédicte Neven

    出版 2021
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  5. 5
    Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency

    Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency 由 Coralie Briand, Marie‐Louise Frémond, D. Bessis, Aurélia Carbasse, Gillian Rice, Vincent Bondet, Darragh Duffy, Lucienne Chatenoud, Stéphane Blanche, Yanick J. Crow, Bénédicte Neven

    出版 2018
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  6. 6
    Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease

    Assessment of Type I Interferon Signaling in Pediatric Inflammatory Disease 由 Gillian Rice, Isabelle Melki, Marie‐Louise Frémond, Tracy A. Briggs, Mathieu P. Rodero, Naoki Kitabayashi, Anthony Oojageer, Brigitte Bader‐Meunier, Alexandre Bélot, Christine Bodemer, Pierre Quartier, Yanick J. Crow

    出版 2016
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  7. 7
    A child with severe juvenile dermatomyositis treated with ruxolitinib

    A child with severe juvenile dermatomyositis treated with ruxolitinib 由 Florence A. Aeschlimann, Marie‐Louise Frémond, Darragh Duffy, Gillian Rice, Jean‐Luc Charuel, Vincent Bondet, Elsa Saire, Bénédicte Neven, Christine Bodemer, Laurent Balu, Cyril Gitiaux, Yanick J. Crow, Brigitte Bader‐Meunier

    出版 2018
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  8. 8
    JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study

    JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study 由 Tom Le Voyer, Cyril Gitiaux, François‐Jérôme Authier, Christine Bodemer, Isabelle Melki, Pierre Quartier, Florence A. Aeschlimann, Arnaud Isapof, Jean‐Philippe Herbeuval, Vincent Bondet, Jean‐Luc Charuel, Marie‐Louise Frémond, Darragh Duffy, Mathieu P. Rodero, Brigitte Bader‐Meunier

    出版 2021
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  9. 9
    Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children

    Haploidentical Hematopoietic Stem Cell Transplantation with Post-Transplant Cyclophosphamide for Primary Immunodeficiencies and Inherited Disorders in Children 由 Bénédicte Neven, Jean‐Sébastien Diana, Martin Castelle, Alessandra Magnani, Jérémie Rosain, Fabien Touzot, Baptiste Moreira, Marie‐Louise Frémond, Coralie Briand, Matthieu Bendavid, Romain Lévy, Guillaume Morelle, Marc Vincent, Elsa Magrin, Philippe Bourget, Lucienne Chatenoud, Capucine Pïcard, Alain Fischer, Despina Moshous, Stéphane Blanche

    出版 2019
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  10. 10
    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage

    Use of ruxolitinib in COPA syndrome manifesting as life-threatening alveolar haemorrhage 由 Marie‐Louise Frémond, Marie Legendre, Michaël Fayon, Annick Clément, Emilie Filhol-Blin, Nicolas Richard, Laura Berdah, Sylvie Roullaud, Gillian Rice, Vincent Bondet, Darragh Duffy, Chiara Siléo, Hubert Ducou Le Pointe, Hugues Begueret, Aurore Coulomb, Bénédicte Neven, Serge Amselem, Yanick J. Crow, Nadia Nathan

    出版 2019
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  11. 11
    International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders

    International multidisciplinary consensus on the definition and clinical approach for monogenic inflammatory immune dysregulation disorders 由 Hend Alkwai, Ibrahim Almaghlouth, Leonardo Oliveira Mendonça, Shuayb Elkhalifa, Hassan Abolhassani, Suliman Aljumaah, Hamoud Al‐Mousa, Mohammed F. Alosaimi, Alhanouf AlSaleem, Tadej Avčin, WL Chan, Graciela Espada, Marie‐Louise Frémond, Ahmet Gül, Djohra Hadef, Nasim Movahedi, Helmut Wittkowski, Sulaiman M. Al‐Mayouf

    出版 2025
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  12. 12
    2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice

    2022 EULAR points to consider for the measurement, reporting and application of IFN-I pathway activation assays in clinical research and practice 由 Javier Rodríguez‐Carrio, Agata Burska, Philip G. Conaghan, Willem A. Dik, Robert Biesen, Maija‐Leena Eloranta, Giulio Cavalli, Marianne E Visser, Dimitrios T. Boumpas, George Βertsias, Marie Wahren‐Herlenius, Jan Rehwinkel, Marie‐Louise Frémond, Mary K. Crow, Lars Rönnblom, Marjan A. Versnel, Edward M Vital

    出版 2023
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  13. 13
    Type I interferon pathway assays in studies of rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider

    Type I interferon pathway assays in studies of rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider 由 Agata Burska, Javier Rodríguez‐Carrio, Robert Biesen, Willem A. Dik, Maija‐Leena Eloranta, Giulio Cavalli, Marjolein Visser, Dimitrios T. Boumpas, George Βertsias, Marie Wahren‐Herlenius, Jan Rehwinkel, Marie‐Louise Frémond, Mary K. Crow, Lars Rönnblom, Philip G. Conaghan, Marjan A. Versnel, Edward M Vital

    出版 2023
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  14. 14
    Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to consider

    Association between type I interferon pathway activation and clinical outcomes in rheumatic and musculoskeletal diseases: a systematic literature review informing EULAR points to c... 由 Javier Rodríguez‐Carrio, Agata Burska, Philip G. Conaghan, Willem A. Dik, Robert Biesen, Maija‐Leena Eloranta, Giulio Cavalli, Marjolein Visser, Dimitrios T. Boumpas, George Βertsias, Marie Wahren‐Herlenius, Jan Rehwinkel, Marie‐Louise Frémond, Mary K. Crow, Lars Rönnblom, Edward M Vital, Marjan A. Versnel

    出版 2023
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  15. 15
    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry

    Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry 由 Claire Desplantes, Marie Louise Fremond, Blandine Beaupain, Jean Luc Harousseau, Agnès Buzyn, Isabelle Pellier, G. Roques, P Morville, Catherine Paillard, Julie Bruneau, Lucile Pinson, Éric Jeziorski, Jean Pierre Vannier, Capucine Pïcard, Florence Bellanger, Norma B. Romero, Loïc de Pontual, Hélène Lapillonne, Patrick Lutz, Christine bellanne Chantelot, Jean Donadieu

    出版 2014
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  16. 16
    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease

    Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease 由 C. David, Mihaly Badonyi, Robin Kechiche, Antonella Insalaco, Marco Zecca, Fabrizio De Benedetti, Simona Orcesi, Luisa Chiapparini, Patrizia Comoli, Silvia Federici, Marco Gattorno, Monia Ginevrino, Elisa Giorgio, Valentina Matteo, Patricia Morán‐Álvarez, Davide Politano, Giusi Prencipe, Fabio Sirchia, Stefano Volpi, Cécile Masson, Gillian Rice, Marie‐Louise Frémond, Alice Lepelley, Joseph A. Marsh, Yanick J. Crow

    出版 2024
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  17. 17
    Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children

    Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173 -activating mutations in 3 children 由 Marie‐Louise Frémond, Mathieu P. Rodero, Nadia Jeremiah, Alexandre Bélot, Éric Jeziorski, Darragh Duffy, D. Bessis, Guilhem Cros, Gillian Rice, Bruno Charbit, Anne Hulin, Nihel Khoudour, Consuelo Modesto Caballero, Christine Bodemer, Monique Fabrè, Laureline Berteloot, M. Le Bourgeois, Philippe Reix, Thierry Walzer, Despina Moshous, Stéphane Blanche, Alain Fischer, Brigitte Bader‐Meunier, Frédéric Rieux‐Laucat, Yanick J. Crow, Bénédicte Neven

    出版 2016
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  18. 18
    Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection

    Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection 由 Fanny Lanternier, Elisa Barbati, Ulrich Meinzer, Luyan Liu, Vincent Pedergnana, Mélanie Migaud, Sebastien Héritier, Maryline Chomton, Marie‐Louise Frémond, Emmanuel Gonzalès, Caroline Galeotti, Serge Romana, Emmanuel Jacquemin, A. Angoulvant, Valeska Bidault, Danielle Canioni, Julie Lachenaud, Davood Mansouri, Seyed Alireza Mahdaviani, Parvaneh Adimi, Nahal Mansouri, Mahin Jamshidi Makiani, Marie‐Elisabeth Bougnoux, Laurent Abel, Olivier Lortholary, Stéphane Blanche, Jean‐Laurent Casanova, Capucine Pïcard, Anne Puel

    出版 2014
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  19. 19
    Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling

    Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling 由 Isabelle Melki, Y Rose, Carolina Uggenti, Lien Van Eyck, Marie‐Louise Frémond, Naoki Kitabayashi, Gillian Rice, Emma M. Jenkinson, Anaïs Boulai, Nadia Jeremiah, Marco Gattorno, Stefano Volpi, Oliviero Sacco, Suzanne W. J. Terheggen-Lagro, Harm A.W.M. Tiddens, Isabelle Meyts, Marie‐Anne Morren, Petra De Haes, Carine Wouters, Eric Legius, Anniek Corveleyn, Frédéric Rieux‐Laucat, Christine Bodemer, Isabelle Callebaut, Mathieu P. Rodero, Yanick J. Crow

    出版 2017
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  20. 20
    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A

    Enhanced cGAS-STING–dependent interferon signaling associated with mutations in ATAD3A 由 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

    出版 2021
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