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spastic paraplegia相关文献:
The global epidemiology of hereditary ataxia and spastic paraplegia: a systematic review of prevalence studies.
Ruano L, Melo C, Silva MC, Coutinho P.
Neuroepidemiology. 2014;42(3):174-83. doi: 10.1159/000358801. Epub 2014 Mar 5.
PMID:24603320
Intrathecal AAV9/AP4M1 gene therapy for hereditary spastic paraplegia 50 shows safety and efficacy in preclinical studies.
Chen X, Dong T, Hu Y, De Pace R, Mattera R, Eberhardt K, Ziegler M, Pirovolakis T, Sahin M, Bonifacino JS, Ebrahimi-Fakhari D, Gray SJ.
J Clin Invest. 2023 May 15;133(10):e164575. doi: 10.1172/JCI164575.
PMID:36951961
Spastic paraplegia type 76 due to novel CAPN1 mutations: three case reports with literature review.
Zhu Z, Hou W, Cao Y, Zheng H, Tian W, Cao L.
Neurogenetics. 2023 Oct;24(4):243-250. doi: 10.1007/s10048-023-00726-8. Epub 2023 Jul 19.
PMID:37468791
Movement disorders in hereditary spastic paraplegia (HSP): a systematic review and individual participant data meta-analysis.
Fereshtehnejad SM, Saleh PA, Oliveira LM, Patel N, Bhowmick S, Saranza G, Kalia LV.
Neurol Sci. 2023 Mar;44(3):947-959. doi: 10.1007/s10072-022-06516-8. Epub 2022 Nov 28.
PMID:36441344
Ophthalmological changes in hereditary spastic paraplegia and other genetic diseases with spastic paraplegia.
de Freitas JL, Rezende Filho FM, Sallum JMF, França MC Jr, Pedroso JL, Barsottini OGP.
J Neurol Sci. 2020 Feb 15;409:116620. doi: 10.1016/j.jns.2019.116620. Epub 2019 Dec 6.
PMID:31865189
Pure hereditary spastic paraplegia.
Reid E.
J Med Genet. 1997 Jun;34(6):499-503. doi: 10.1136/jmg.34.6.499.
PMID:9192272
Dysarthria in hereditary spastic paraplegia type 4.
Jacinto-Scudeiro LA, Rothe-Neves R, Dos Santos VB, Machado GD, Burguêz D, Padovani MMP, Ayres A, Rech RS, González-Salazar C, Junior MCF, Saute JAM, Olchik MR.
Clinics (Sao Paulo). 2022 Dec 3;78:100128. doi: 10.1016/j.clinsp.2022.100128. eCollection 2023.
PMID:36473366
Spastic Paraplegia and Ataxia in a Welder.
Mumoli L, Vescio V, Bosco D.
Neurology. 2022 Oct 3;99(14):612-613. doi: 10.1212/WNL.0000000000201107.
PMID:35858819
Spastic paraplegia 51: phenotypic spectrum related to novel homozygous AP4E1 mutation.
Manoochehri J, Goodarzi HR, Tabei SMB.
J Genet. 2022;101:40.
PMID:36226339
Hereditary Spastic
Paraplegia: Role of MRI.
Palwa AR, Shafique M, Haqnawaz K.
J Coll Physicians Surg Pak. 2021 Dec;31(12):1518-1519. doi: 10.29271/jcpsp.2021.12.1518.
PMID:34794303
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