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Page 1
GM3 synthase deficiency in non-Amish patients.
Heide S, Jacquemont ML, Cheillan D, Renouil M, Tallot M, Schwartz CE, Miquel J, Bintner M, Rodriguez D, Darcel F, Buratti J, Haye D, Passemard S, Gras D, Perrin L, Capri Y, Gérard B, Piton A, Keren B, Thauvin-Robinet C, Duffourd Y, Faivre L, Poe C, Pervillé A, Héron D, Thévenon J, Arnaud L, LeGuern E, La Selva L, Vetro A, Guerrini R, Nava C, Mignot C. Heide S, et al. Among authors: perville a. Genet Med. 2022 Feb;24(2):492-498. doi: 10.1016/j.gim.2021.10.007. Epub 2021 Nov 30. Genet Med. 2022. PMID: 34906476 Free article.
STAC3 related congenital myopathy: A case series of seven Comorian patients.
Gromand M, Gueguen P, Pervillé A, Ferroul F, Morel G, Harouna A, Doray B, Urtizberea JA, Alessandri JL, Robin S. Gromand M, et al. Among authors: perville a. Eur J Med Genet. 2022 Oct;65(10):104598. doi: 10.1016/j.ejmg.2022.104598. Epub 2022 Aug 25. Eur J Med Genet. 2022. PMID: 36030003
Effects of nusinersen after one year of treatment in 123 children with SMA type 1 or 2: a French real-life observational study.
Audic F, de la Banda MGG, Bernoux D, Ramirez-Garcia P, Durigneux J, Barnerias C, Isapof A, Cuisset JM, Cances C, Richelme C, Vuillerot C, Laugel V, Ropars J, Altuzarra C, Espil-Taris C, Walther-Louvier U, Sabouraud P, Chouchane M, Vanhulle C, Trommsdorff V, Pervillé A, Testard H, Lagrue E, Sarret C, Avice AL, Beze-Beyrie P, Pauly V, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: perville a. Orphanet J Rare Dis. 2020 Jun 12;15(1):148. doi: 10.1186/s13023-020-01414-8. Orphanet J Rare Dis. 2020. PMID: 32532349 Free PMC 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: perville a. 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: perville a. 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
Effect of nusinersen after 3 years of treatment in 57 young children with SMA in terms of SMN2 copy number or type.
Audic F, Dubois SM, Durigneux J, Barnerias C, Isapof A, Nougues MC, Davion JB, Richelme C, Vuillerot C, Legoff L, Sabouraud P, Cances C, Laugel V, Ropars J, Espil-Taris C, Trommsdorff V, Pervillé A, Garcia-de-la-Banda MG, Testard H, Chouchane M, Walther-Louvier U, Schweizer C, Halbert C, Badri M, Quijano-Roy S, Chabrol B, Desguerre I. Audic F, et al. Among authors: perville a. Arch Pediatr. 2024 Feb;31(2):117-123. doi: 10.1016/j.arcped.2023.10.009. Epub 2023 Dec 21. Arch Pediatr. 2024. PMID: 38135619
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: perville a. Pediatr Pulmonol. 2024 Mar;59(3):642-651. doi: 10.1002/ppul.26796. Epub 2023 Dec 13. Pediatr Pulmonol. 2024. PMID: 38088209