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Marie-Louise Frémond
Marie-Louise Frémond
Institut Imagine
Verified email at aphp.fr
Title
Cited by
Cited by
Year
Inherited STING-activating mutation underlies a familial inflammatory syndrome with lupus-like manifestations
N Jeremiah, B Neven, M Gentili, I Callebaut, S Maschalidi, ...
The Journal of clinical investigation 124 (12), 5516-5520, 2014
4982014
Detection of interferon alpha protein reveals differential levels and cellular sources in disease
MP Rodero, J Decalf, V Bondet, D Hunt, GI Rice, S Werneke, ...
Journal of experimental medicine 214 (5), 1547-1555, 2017
3432017
Preexisting autoantibodies to type I IFNs underlie critical COVID-19 pneumonia in patients with APS-1
P Bastard, E Orlova, L Sozaeva, R Lévy, A James, MM Schmitt, S Ochoa, ...
Journal of Experimental Medicine 218 (7), 2021
2342021
Efficacy of the Janus kinase 1/2 inhibitor ruxolitinib in the treatment of vasculopathy associated with TMEM173-activating mutations in 3 children
ML Frémond, MP Rodero, N Jeremiah, A Belot, E Jeziorski, D Duffy, ...
Journal of Allergy and Clinical Immunology 138 (6), 1752-1755, 2016
2302016
Type I interferon-mediated autoinflammation due to DNase II deficiency
MP Rodero, A Tesser, E Bartok, GI Rice, E Della Mina, M Depp, B Beitz, ...
Nature communications 8 (1), 2176, 2017
2042017
Disease-associated mutations identify a novel region in human STING necessary for the control of type I interferon signaling
I Melki, Y Rose, C Uggenti, L Van Eyck, ML Frémond, N Kitabayashi, ...
Journal of Allergy and Clinical Immunology 140 (2), 543-552. e5, 2017
1822017
Assessment of type I interferon signaling in pediatric inflammatory disease
GI Rice, I Melki, ML Frémond, TA Briggs, MP Rodero, N Kitabayashi, ...
Journal of clinical immunology 37, 123-132, 2017
1812017
Mutations in COPA lead to abnormal trafficking of STING to the Golgi and interferon signaling
A Lepelley, MJ Martin-Niclós, M Le Bihan, JA Marsh, C Uggenti, GI Rice, ...
Journal of Experimental Medicine 217 (11), e20200600, 2020
1532020
Next-generation sequencing for diagnosis and tailored therapy: a case report of astrovirus-associated progressive encephalitis
ML Frémond, P Pérot, E Muth, G Cros, M Dumarest, N Mahlaoui, ...
Journal of the Pediatric Infectious Diseases Society 4 (3), e53-e57, 2015
1352015
Inherited CARD9 Deficiency in 2 Unrelated Patients With Invasive Exophiala Infection
F Lanternier, E Barbati, U Meinzer, L Liu, V Pedergnana, M Migaud, ...
The Journal of Infectious Diseases 211 (8), 1241-1250, 2015
1342015
Reverse-transcriptase inhibitors in the Aicardi–Goutières syndrome
GI Rice, C Meyzer, N Bouazza, M Hully, N Boddaert, M Semeraro, ...
New England Journal of Medicine 379 (23), 2275-2277, 2018
1272018
cGAS-mediated induction of type I interferon due to inborn errors of histone pre-mRNA processing
C Uggenti, A Lepelley, M Depp, AP Badrock, MP Rodero, MT El-Daher, ...
Nature Genetics 52 (12), 1364-1372, 2020
1202020
Overview of STING-associated vasculopathy with onset in infancy (SAVI) among 21 patients
ML Frémond, A Hadchouel, L Berteloot, I Melki, V Bresson, L Barnabei, ...
The Journal of Allergy and Clinical Immunology: In Practice 9 (2), 803-818. e11, 2021
1192021
Haploidentical hematopoietic stem cell transplantation with post-transplant cyclophosphamide for primary immunodeficiencies and inherited disorders in children
B Neven, JS Diana, M Castelle, A Magnani, J Rosain, F Touzot, B Moreira, ...
Biology of Blood and Marrow Transplantation 25 (7), 1363-1373, 2019
792019
A child with severe juvenile dermatomyositis treated with ruxolitinib
FA Aeschlimann, ML Frémond, D Duffy, GI Rice, JL Charuel, V Bondet, ...
Brain 141 (11), e80-e80, 2018
752018
Anti–TNF-α therapy may cause neonatal neutropenia
T Guiddir, ML Frémond, TB Triki, S Candon, L Croisille, T Leblanc, ...
Pediatrics 134 (4), e1189-e1193, 2014
692014
JAK inhibitors are effective in a subset of patients with juvenile dermatomyositis: a monocentric retrospective study
T Le Voyer, C Gitiaux, FJ Authier, C Bodemer, I Melki, P Quartier, ...
Rheumatology 60 (12), 5801-5808, 2021
652021
Clinical spectrum and long-term follow-up of 14 cases with G6PC3 mutations from the French severe congenital neutropenia registry
C Desplantes, ML Fremond, B Beaupain, JL Harousseau, A Buzyn, ...
Orphanet Journal of Rare Diseases 9, 1-15, 2014
622014
STING-mediated lung inflammation and beyond
ML Frémond, YJ Crow
Journal of clinical immunology 41 (3), 501-514, 2021
572021
Efficacy of JAK1/2 inhibition in the treatment of chilblain lupus due to TREX1 deficiency
C Briand, ML Frémond, D Bessis, A Carbasse, GI Rice, V Bondet, D Duffy, ...
Annals of the rheumatic diseases 78 (3), 431-433, 2019
542019
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