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12 results

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Page 1
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: beze beyrie p. 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.
[Multicentric study of medical care and practices in spinal muscular atrophy type 1 over two 10-year periods].
Barnérias C, Quijano S, Mayer M, Estournet B, Cuisset JM, Sukno S, Peudenier S, Laroche C, Chabrier S, Sabouraud P, Vuillerot C, Chabrol B, Halbert C, Cancès C, Beze-Beyrie P, Ledivenah A, Viallard ML, Desguerre I. Barnérias C, et al. Among authors: beze beyrie p. Arch Pediatr. 2014 Apr;21(4):347-54. doi: 10.1016/j.arcped.2014.01.017. Epub 2014 Mar 12. Arch Pediatr. 2014. PMID: 24630620 French.
Evaluating next-generation sequencing in neuromuscular diseases with neonatal respiratory distress.
François-Heude MC, Walther-Louvier U, Espil-Taris C, Beze-Beyrie P, Rivier F, Baudou E, Uro-Coste E, Rigau V, Martin Negrier ML, Rendu J, Morales RJ, Pégeot H, Thèze C, Lacourt D, Coville AC, Cossée M, Cances C. François-Heude MC, et al. Among authors: beze beyrie p. Eur J Paediatr Neurol. 2021 Mar;31:78-87. doi: 10.1016/j.ejpn.2021.01.011. Epub 2021 Feb 17. Eur J Paediatr Neurol. 2021. PMID: 33667896
HINT1 neuropathy: Expanding the genotype and phenotype spectrum.
Morel V, Campana-Salort E, Boyer A, Esselin F, Walther-Louvier U, Querin G, Latour P, Lia AS, Magdelaine C, Beze-Beyrie P, Behin A, Delague V, Levy N, Stojkovic T, Attarian S, Bonello-Palot N. Morel V, et al. Among authors: beze beyrie p. Clin Genet. 2022 Nov;102(5):379-390. doi: 10.1111/cge.14198. Epub 2022 Aug 16. Clin Genet. 2022. PMID: 35882622 Free PMC article. Review.
[Acute immune epiduritis in a child].
Boumpoutou R, Beze-Beyrie P, Guerin B, Couleru G, Bersani D, Doireau V. Boumpoutou R, et al. Among authors: beze beyrie p. Arch Pediatr. 2003 Jun;10(6):521-3. doi: 10.1016/s0929-693x(03)00149-0. Arch Pediatr. 2003. PMID: 12915015 French.
Implication of the SH3TC2 gene in Charcot-Marie-Tooth disease associated with deafness and/or scoliosis: Illustration with four new pathogenic variants.
Lerat J, Magdelaine C, Lunati A, Dzugan H, Dejoie C, Rego M, Beze Beyrie P, Bieth E, Calvas P, Cintas P, Delaubrier A, Demurger F, Gilbert-Dussardier B, Goizet C, Journel H, Laffargue F, Magy L, Taithe F, Toutain A, Urtizberea JA, Sturtz F, Lia AS. Lerat J, et al. Among authors: beze beyrie p. J Neurol Sci. 2019 Nov 15;406:116376. doi: 10.1016/j.jns.2019.06.027. Epub 2019 Jun 26. J Neurol Sci. 2019. PMID: 31634715
[Airbag-related death in a toddler. A poorly known danger?].
Cabasson S, Bauvin I, Firah N, David A, Bèze-Beyrie P, Gréteau S, Mensire-Marinier A, Oilleau L, Mansir T. Cabasson S, et al. Among authors: beze beyrie p. Arch Pediatr. 2015 Apr;22(4):405-8. doi: 10.1016/j.arcped.2015.01.004. Epub 2015 Feb 26. Arch Pediatr. 2015. PMID: 25725974 French.
[Neonatal presentation of Prader-Willi syndrome].
Monnereau S, Choulot JJ, Beze-Beyrie P, Barbier R, Doireau V, Mensire A, Saint-Martin J. Monnereau S, et al. Among authors: beze beyrie p. Arch Pediatr. 2000 May;7(5):573. doi: 10.1016/s0929-693x(00)89021-1. Arch Pediatr. 2000. PMID: 10855403 French. No abstract available.
12 results