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Heterozygous frameshift variants in HNRNPA2B1 cause early-onset oculopharyngeal muscular dystrophy.
Kim HJ, Mohassel P, Donkervoort S, Guo L, O'Donovan K, Coughlin M, Lornage X, Foulds N, Hammans SR, Foley AR, Fare CM, Ford AF, Ogasawara M, Sato A, Iida A, Munot P, Ambegaonkar G, Phadke R, O'Donovan DG, Buchert R, Grimmel M, Töpf A, Zaharieva IT, Brady L, Hu Y, Lloyd TE, Klein A, Steinlin M, Kuster A, Mercier S, Marcorelles P, Péréon Y, Fleurence E, Manzur A, Ennis S, Upstill-Goddard R, Bello L, Bertolin C, Pegoraro E, Salviati L, French CE, Shatillo A, Raymond FL, Haack TB, Quijano-Roy S, Böhm J, Nelson I, Stojkovic T, Evangelista T, Straub V, Romero NB, Laporte J, Muntoni F, Nishino I, Tarnopolsky MA, Shorter J, Bönnemann CG, Taylor JP. Kim HJ, et al. Among authors: fleurence e. Nat Commun. 2022 Apr 28;13(1):2306. doi: 10.1038/s41467-022-30015-1. Nat Commun. 2022. PMID: 35484142 Free PMC 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: fleurence 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
Respiratory management of spinal muscular atrophy type 1 patients treated with Nusinersen.
Menard J, Seferian AM, Fleurence E, Barzic A, Binoche A, Labouret G, Coutier L, Vuillerot C, Bieleu BM, Gomez Garcia de la Banda M, Corvol H, Servais L, Taytard J. Menard J, et al. Among authors: fleurence e. Pediatr Pulmonol. 2022 Jun;57(6):1505-1512. doi: 10.1002/ppul.25899. Epub 2022 Mar 28. Pediatr Pulmonol. 2022. PMID: 35307979 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: fleurence 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.
Pediatric long-term noninvasive respiratory support in children with central nervous system disorders.
Carrara M, Aubertin G, Khirani S, Massenavette B, Bierme P, Griffon L, Ioan I, Schweitzer C, Binoche A, Lampin ME, Mordacq C, Rubinsztajn R, Debeilleix S, Galode F, Bui S, Hullo E, Becourt A, Lubrano M, Moreau J, Renoux MC, Matecki S, Stremler N, Baravalle-Einaudi M, Mazenq J, Sigur E, Labouret G, Genevois AL, Heyman R, Pomedio M, Masson A, Hangard P, Menetrey C, Le Clainche L, Bokov P, Dudoignon B, Fleurence E, Bergounioux J, Mbieleu B, Breining A, Giovannin-Chami L, Fina A, Ollivier M, Gachelin E, Perisson C, Pervillé A, Barzic A, Cros P, Jokic M, Labbé G, Diaz V, Coutier L, Fauroux B, Taytard J. Carrara M, et al. Among authors: fleurence e. Pediatr Pulmonol. 2024 Mar;59(3):642-651. doi: 10.1002/ppul.26796. Epub 2023 Dec 13. Pediatr Pulmonol. 2024. PMID: 38088209
Expanding the clinical spectrum of hereditary fibrosing poikiloderma with tendon contractures, myopathy and pulmonary fibrosis due to FAM111B mutations.
Mercier S, Küry S, Salort-Campana E, Magot A, Agbim U, Besnard T, Bodak N, Bou-Hanna C, Bréhéret F, Brunelle P, Caillon F, Chabrol B, Cormier-Daire V, David A, Eymard B, Faivre L, Figarella-Branger D, Fleurence E, Ganapathi M, Gherardi R, Goldenberg A, Hamel A, Igual J, Irvine AD, Israël-Biet D, Kannengiesser C, Laboisse C, Le Caignec C, Mahé JY, Mallet S, MacGowan S, McAleer MA, McLean I, Méni C, Munnich A, Mussini JM, Nagy PL, Odel J, O'Regan GM, Péréon Y, Perrier J, Piard J, Puzenat E, Sampson JB, Smith F, Soufir N, Tanji K, Thauvin C, Ulane C, Watson RM, Khumalo NP, Mayosi BM, Barbarot S, Bézieau S. Mercier S, et al. Among authors: fleurence e. Orphanet J Rare Dis. 2015 Oct 15;10:135. doi: 10.1186/s13023-015-0352-4. Orphanet J Rare Dis. 2015. PMID: 26471370 Free PMC article.