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Defective exercise-related expiratory muscle recruitment in patients with PHOX2B mutations: A clue to neural determinants of the congenital central hypoventilation syndrome.
Laveneziana P, Fossé Q, Bret M, Patout M, Dudoignon B, Llontop C, Morélot-Panzini C, Cayetanot F, Bodineau L, Straus C, Similowski T. Laveneziana P, et al. Among authors: dudoignon b. Pulmonology. 2024 Feb 24:S2531-0437(24)00009-6. doi: 10.1016/j.pulmoe.2024.01.005. Online ahead of print. Pulmonology. 2024. PMID: 38403573 Free article.
Further description of two individuals with de novo p.(Glu127Lys) missense variant in the ASCL1 gene.
Malbos M, Wakeling E, Gautier T, Boespflug-Tanguy O, Busby L, Taylor-Miller T, Dudoignon B, Bokov P, Govin J, Grisval M, Rega A, Mourot De Rougemont MG, Aubriot-Lorton MH, Darmency V, Bensignor C, Houzel A, Huet F, Denommé-Pichon AS, Delanne J, Tran Mau-Them F, Bruel AL, Safraou H, Nambot S, Garde A, Philippe C, Duffourd Y, Vitobello A, Faivre L, Thauvin-Robinet C. Malbos M, et al. Among authors: dudoignon b. Clin Genet. 2024 May;105(5):555-560. doi: 10.1111/cge.14485. Epub 2024 Jan 29. Clin Genet. 2024. PMID: 38287449
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: dudoignon b. Pediatr Pulmonol. 2024 Mar;59(3):642-651. doi: 10.1002/ppul.26796. Epub 2023 Dec 13. Pediatr Pulmonol. 2024. PMID: 38088209
26 results