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Page 1
Nonsense mutations accelerate lung disease and decrease survival of cystic fibrosis children.
Orenti A, Pranke I, Faucon C, Varilh J, Hatton A, Golec A, Dehillotte C, Durieu I, Reix P, Burgel PR, Grenet D, Tasset C, Gachelin E, Perisson C, Lepissier A, Dreano E, Tondelier D, Chevalier B, Weiss L, Kiefer S, Laurans M, Chiron R, Lemonnier L, Marguet C, Jung A, Edelman A, Kerem BS, Girodon E, Taulan-Cadars M, Hinzpeter A, Kerem E, Naehrlich L, Sermet-Gaudelus I; ECFSPR Steering group. Orenti A, et al. Among authors: gachelin e. J Cyst Fibros. 2023 Nov;22(6):1070-1079. doi: 10.1016/j.jcf.2023.06.005. Epub 2023 Jul 6. J Cyst Fibros. 2023. PMID: 37422433
Rapid Improvement after Starting Elexacaftor-Tezacaftor-Ivacaftor in Patients with Cystic Fibrosis and Advanced Pulmonary Disease.
Burgel PR, Durieu I, Chiron R, Ramel S, Danner-Boucher I, Prevotat A, Grenet D, Marguet C, Reynaud-Gaubert M, Macey J, Mely L, Fanton A, Quetant S, Lemonnier L, Paillasseur JL, Da Silva J, Martin C; French Cystic Fibrosis Reference Network Study Group. Burgel PR, et al. Am J Respir Crit Care Med. 2021 Jul 1;204(1):64-73. doi: 10.1164/rccm.202011-4153OC. Am J Respir Crit Care Med. 2021. PMID: 33600738
Reclassifying inconclusive diagnosis for cystic fibrosis with new generation sweat test.
Nguyen-Khoa T, Hatton A, Drummond D, Aoust L, Schlatter J, Martin C, Ramel S, Kiefer S, Gachelin E, Stremler N, Cosson L, Gabsi A, Remus N, Benhamida M, Hadchouel A, Fajac I, Munck A, Girodon E, Sermet-Gaudelus I. Nguyen-Khoa T, et al. Among authors: gachelin e. Eur Respir J. 2022 Aug 4;60(2):2200209. doi: 10.1183/13993003.00209-2022. Print 2022 Aug. Eur Respir J. 2022. PMID: 35777769 Free article. No abstract available.
Methionine supplementation for multi-organ dysfunction in MetRS-related pulmonary alveolar proteinosis.
Hadchouel A, Drummond D, Pontoizeau C, Aoust L, Hurtado Nedelec MM, El Benna J, Gachelin E, Perisson C, Vigier C, Schiff M, Lacaille F, Molina TJ, Berteloot L, Renolleau S, Ottolenghi C, Tréluyer JM, de Blic J, Delacourt C. Hadchouel A, et al. Among authors: gachelin e. Eur Respir J. 2022 Apr 21;59(4):2101554. doi: 10.1183/13993003.01554-2021. Print 2022 Apr. Eur Respir J. 2022. PMID: 34503986 Free article.
Paediatric long term continuous positive airway pressure and noninvasive ventilation in France: A cross-sectional study.
Fauroux B, Khirani S, Amaddeo A, Massenavette B, Bierme P, Taytard J, Stremler N, Baravalle-Einaudi M, Mazenq J, Ioan I, Schweitzer C, Lampin ME, Binoche A, Mordacq C, Bergounioux J, Mbieleu B, Rubinsztajn R, Sigur E, Labouret G, Genevois A, Becourt A, Hullo E, Pin I, Debelleix S, Galodé F, Bui S, Moreau J, Renoux MC, Matecki S, Lavadera ML, Heyman R, Pomedio M, Le Clainche L, Bokov P, Masson A, Hangard P, Menetrey C, Jokic M, Gachelin E, Perisson C, Pervillé A, Fina A, Giovannini-Chami L, Fleurence E, Barzic A, Breining A, Ollivier M, Labbé G, Coutier L, Aubertin G. Fauroux B, et al. Among authors: gachelin e. Respir Med. 2021 May;181:106388. doi: 10.1016/j.rmed.2021.106388. Epub 2021 Apr 3. Respir Med. 2021. PMID: 33848922 Free article.
Long term noninvasive ventilation and continuous positive airway pressure in children with neuromuscular diseases in France.
Allaer L, Khirani S, Griffon L, Massenavette B, Bierme P, Aubertin G, Stremler N, Baravalle-Einaudi M, Mazenq J, Ioan I, Schweitzer C, Binoche A, Lampin ME, Mordacq C, Bergounioux J, Mbieleu B, Rubinsztajn R, Sigur E, Labouret G, Genevois A, Becourt A, Hullo E, Debelleix S, Galodé F, Bui S, Moreau J, Renoux MC, Matecki S, Lubrano Lavadera M, Heyman R, Pomedio M, Clainche LL, Bokov P, Dudoignon B, Masson A, Hangard P, Menetrey C, Jokic M, Gachelin E, Perisson C, Pervillé A, Fina A, Giovannini-Chami L, Fleurence E, Barzic A, Cros P, Breining A, Ollivier M, Labbé G, Coutier L, Taytard J, Fauroux B. Allaer L, et al. Among authors: gachelin e. Neuromuscul Disord. 2022 Dec;32(11-12):886-892. doi: 10.1016/j.nmd.2022.09.008. Epub 2022 Sep 24. Neuromuscul Disord. 2022. PMID: 36270935
The expanded French compassionate programme for elexacaftor-tezacaftor-ivacaftor use in people with cystic fibrosis without a F508del CFTR variant: a real-world study.
Burgel PR, Sermet-Gaudelus I, Girodon E, Durieu I, Houdouin V, Audousset C, Macey J, Grenet D, Porzio M, Murris-Espin M, Reix P, Baravalle M, Belleguic C, Mely L, Verhille J, Weiss L, Reynaud-Gaubert M, Mittaine M, Hamidfar R, Ramel S, Cosson L, Douvry B, Danner-Boucher I, Foucaud P, Roy C, Burnet E, Raynal C, Audrezet MP, Da Silva J, Martin C; French Cystic Fibrosis Reference Network study group. Burgel PR, et al. Lancet Respir Med. 2024 Nov;12(11):888-900. doi: 10.1016/S2213-2600(24)00208-X. Epub 2024 Aug 13. Lancet Respir Med. 2024. PMID: 39151434
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