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progressive spinal muscular atrophy相关文献:
Spinal muscular atrophy.
D'Amico A, Mercuri E, Tiziano FD, Bertini E.
Orphanet J Rare Dis. 2011 Nov 2;6:71. doi: 10.1186/1750-1172-6-71.
PMID:22047105
Advances in Treatment of Spinal Muscular Atrophy - New Phenotypes, New Challenges, New Implications for Care.
Schorling DC, Pechmann A, Kirschner J.
J Neuromuscul Dis. 2020;7(1):1-13. doi: 10.3233/JND-190424.
PMID:31707373
Progressive Muscular Atrophy.
Liewluck T, Saperstein DS.
Neurol Clin. 2015 Nov;33(4):761-73. doi: 10.1016/j.ncl.2015.07.005.
PMID:26515620
Mid- and long-term (at least 12 months) follow-up of patients with spinal muscular atrophy (SMA) treated with nusinersen, onasemnogene abeparvovec, risdiplam or combination therapies: A systematic review of real-world study data.
Erdos J, Wild C.
Eur J Paediatr Neurol. 2022 Jul;39:1-10. doi: 10.1016/j.ejpn.2022.04.006. Epub 2022 Apr 30.
PMID:35533607
Spinal Muscular Atrophy Treatments, Newborn Screening, and the Creation of a Neurogenetics Urgency.
Butterfield RJ.
Semin Pediatr Neurol. 2021 Jul;38:100899. doi: 10.1016/j.spen.2021.100899. Epub 2021 May 29.
PMID:34183144
Spinal Muscular Atrophy: An Evolving Scenario through New Perspectives in Diagnosis and Advances in Therapies.
Angilletta I, Ferrante R, Giansante R, Lombardi L, Babore A, Dell'Elice A, Alessandrelli E, Notarangelo S, Ranaudo M, Palmarini C, De Laurenzi V, Stuppia L, Rossi C.
Int J Mol Sci. 2023 Oct 3;24(19):14873. doi: 10.3390/ijms241914873.
PMID:37834320
Physical Therapy and Nusinersen Impact on Spinal Muscular Atrophy Rehabilitative Outcome.
Mirea A, Leanca MC, Onose G, Sporea C, Padure L, Shelby ES, Dima V, Daia C.
Front Biosci (Landmark Ed). 2022 Jun 6;27(6):179. doi: 10.31083/j.fbl2706179.
PMID:35748255
Five patients with spinal muscular atrophy-progressive myoclonic epilepsy (SMA-PME): a novel pathogenic variant, treatment and review of the literature.
Karimzadeh P, Najmabadi H, Lochmuller H, Babaee M, Dehdahsi S, Miryounesi M, Amirsalari S, Rayegani SM, Tonekaboni SH.
Neuromuscul Disord. 2022 Oct;32(10):806-810. doi: 10.1016/j.nmd.2022.08.002. Epub 2022 Aug 6.
PMID:36309462
Spinal Muscular Atrophy: A (Now) Treatable Neurodegenerative Disease.
Fay A.
Pediatr Clin North Am. 2023 Oct;70(5):963-977. doi: 10.1016/j.pcl.2023.06.002. Epub 2023 Jul 26.
PMID:37704354
[Spinal muscular atrophy].
Martin P, Horber V, Park J, Kronlage C, Grimm A.
Nervenarzt. 2022 Feb;93(2):191-200. doi: 10.1007/s00115-021-01256-0. Epub 2022 Jan 17.
PMID:35037967
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