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Journal Abstract Search


472 related items for PubMed ID: 33638609

  • 1. The investigation of genetic and clinical features in patients with hereditary spastic paraplegia in central-Southern China.
    Wang C, Zhang YJ, Xu CH, Li D, Liu ZJ, Wu Y.
    Mol Genet Genomic Med; 2021 May; 9(5):e1627. PubMed ID: 33638609
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  • 2. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
    Hashemi SS, Hajati R, Davarzani A, Rohani M, DanaeeFard F, Rahimi Bidgoli MM, Fatehi F, Kariminejad A, Najmabadi H, Nafissi S, Alavi A.
    Can J Neurol Sci; 2022 Sep; 49(5):651-661. PubMed ID: 34353391
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  • 3. A novel variant (p.A524P) in Spastin is responsible for a Chinese family with hereditary spastic paraplegia.
    Jin YH, Xiang YZ, Zhao MF, Liu YH, Fan LL, Li XC.
    Mol Biol Rep; 2024 Sep 04; 51(1):951. PubMed ID: 39230614
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  • 6. A p.Arg499His mutation in SPAST is associated with infantile-onset complicated spastic paraplegia: a case report and review of the literature.
    Nan H, Shiraku H, Mizuno T, Takiyama Y.
    BMC Neurol; 2021 Nov 09; 21(1):439. PubMed ID: 34753439
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  • 9. A Retrospective Review of 18 Patients With Childhood-Onset Hereditary Spastic Paraplegia, Nine With Novel Variants.
    Kilic MA, Yildiz EP, Deniz A, Coskun O, Kurekci F, Avci R, Genc HM, Yesil G, Akbas S, Yesilyurt A, Kara B.
    Pediatr Neurol; 2024 Mar 09; 152():189-195. PubMed ID: 38301322
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  • 10. Sequence variants in SPAST, SPG3A and HSPD1 in hereditary spastic paraplegia.
    Svenstrup K, Bross P, Koefoed P, Hjermind LE, Eiberg H, Born AP, Vissing J, Gyllenborg J, Nørremølle A, Hasholt L, Nielsen JE.
    J Neurol Sci; 2009 Sep 15; 284(1-2):90-5. PubMed ID: 19423133
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  • 11. Mutational spectrum of the SPAST and ATL1 genes in Korean patients with hereditary spastic paraplegia.
    Park H, Kang SH, Park S, Kim SY, Seo SH, Lee SJ, Lee JA, Cho SI, Sung JJ, Lee KW, Kim JY, Park SS, Seong MW.
    J Neurol Sci; 2015 Oct 15; 357(1-2):167-72. PubMed ID: 26208798
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  • 12. Clinical spectrum and genetic landscape for hereditary spastic paraplegias in China.
    Dong EL, Wang C, Wu S, Lu YQ, Lin XH, Su HZ, Zhao M, He J, Ma LX, Wang N, Chen WJ, Lin X.
    Mol Neurodegener; 2018 Jul 06; 13(1):36. PubMed ID: 29980238
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  • 14. Novel mutations of the SPG11 gene in hereditary spastic paraplegia with thin corpus callosum.
    Liao SS, Shen L, Du J, Zhao GH, Wang XY, Yang Y, Xiao ZQ, Yuan Y, Jiang H, Li N, Sun HD, Wang JL, Wang CY, Zhou YF, Mo XY, Xia K, Tang BS.
    J Neurol Sci; 2008 Dec 15; 275(1-2):92-9. PubMed ID: 18835492
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  • 16. Spastic paraplegia type 4: A novel SPAST splice site donor mutation and expansion of the phenotype variability.
    Kawarai T, Montecchiani C, Miyamoto R, Gaudiello F, Caltagirone C, Izumi Y, Kaji R, Orlacchio A.
    J Neurol Sci; 2017 Sep 15; 380():92-97. PubMed ID: 28870597
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  • 18. Targeted next-generation sequencing improves diagnosis of hereditary spastic paraplegia in Chinese patients.
    Lu C, Li LX, Dong HL, Wei Q, Liu ZJ, Ni W, Gitler AD, Wu ZY.
    J Mol Med (Berl); 2018 Jul 15; 96(7):701-712. PubMed ID: 29934652
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