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Journal Abstract Search

399 related items for PubMed ID: 30778698

  • 1. Next-generation sequencing study reveals the broader variant spectrum of hereditary spastic paraplegia and related phenotypes.
    Elert-Dobkowska E, Stepniak I, Krysa W, Ziora-Jakutowicz K, Rakowicz M, Sobanska A, Pilch J, Antczak-Marach D, Zaremba J, Sulek A.
    Neurogenetics; 2019 Mar; 20(1):27-38. PubMed ID: 30778698
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  • 7. 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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  • 8. The impact of next-generation sequencing on the diagnosis of pediatric-onset hereditary spastic paraplegias: new genotype-phenotype correlations for rare HSP-related genes.
    Travaglini L, Aiello C, Stregapede F, D'Amico A, Alesi V, Ciolfi A, Bruselles A, Catteruccia M, Pizzi S, Zanni G, Loddo S, Barresi S, Vasco G, Tartaglia M, Bertini E, Nicita F.
    Neurogenetics; 2018 May 15; 19(2):111-121. PubMed ID: 29691679
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  • 10. Application of a custom NGS gene panel revealed a high diagnostic utility for molecular testing of hereditary ataxias.
    Radziwonik W, Elert-Dobkowska E, Klimkowicz-Mrowiec A, Ziora-Jakutowicz K, Stepniak I, Zaremba J, Sulek A.
    J Appl Genet; 2022 Sep 15; 63(3):513-525. PubMed ID: 35588347
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  • 14. Genetic analysis of SPG4 and SPG3A genes in a cohort of Chinese patients with hereditary spastic paraplegia.
    Lu X, Cen Z, Xie F, Ouyang Z, Zhang B, Zhao G, Luo W.
    J Neurol Sci; 2014 Dec 15; 347(1-2):368-71. PubMed ID: 25454648
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  • 18. Clinical and Genetic Spectrum in a Large Cohort of Hereditary Spastic Paraplegia.
    Cao Y, Zheng H, Zhu Z, Yao L, Tian W, Cao L.
    Mov Disord; 2024 Apr 15; 39(4):651-662. PubMed ID: 38291924
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  • 19. Investigating the genetic basis of hereditary spastic paraplegia and cerebellar Ataxia in Pakistani families.
    Azeem A, Ahmed AN, Khan N, Voutsina N, Ullah I, Ubeyratna N, Yasin M, Baple EL, Crosby AH, Rawlins LE, Saleha S.
    BMC Neurol; 2024 Sep 20; 24(1):354. PubMed ID: 39304850
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  • 20. [A novel mutation of SPAST gene in a hereditary spastic paraplegia type 4 family].
    Zhang LP, Wang YF.
    Zhonghua Nei Ke Za Zhi; 2022 Dec 01; 61(12):1343-1350. PubMed ID: 36456515
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