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Journal Abstract Search

399 related items for PubMed ID: 30778698

  • 21.
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  • 23. 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
    [Abstract] [Full Text] [Related]

  • 24. Mutation and clinical characteristics of autosomal-dominant hereditary spastic paraplegias in China.
    Luo Y, Chen C, Zhan Z, Wang Y, Du J, Hu Z, Liao X, Zhao G, Wang J, Yan X, Jiang H, Pan Q, Xia K, Tang B, Shen L.
    Neurodegener Dis; 2014 May; 14(4):176-83. PubMed ID: 25341883
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  • 26. Homozygosity mapping and next generation sequencing for the genetic diagnosis of hereditary ataxia and spastic paraplegia in consanguineous families.
    Jiao B, Zhou Z, Hu Z, Du J, Liao X, Luo Y, Wang J, Yan X, Jiang H, Tang B, Shen L.
    Parkinsonism Relat Disord; 2020 Nov; 80():65-72. PubMed ID: 32961396
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  • 28. Massive sequencing of 70 genes reveals a myriad of missing genes or mechanisms to be uncovered in hereditary spastic paraplegias.
    Morais S, Raymond L, Mairey M, Coutinho P, Brandão E, Ribeiro P, Loureiro JL, Sequeiros J, Brice A, Alonso I, Stevanin G.
    Eur J Hum Genet; 2017 Nov; 25(11):1217-1228. PubMed ID: 28832565
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  • 31. Autosomal dominant spastic paraplegias: a review of 89 families resulting from a portuguese survey.
    Loureiro JL, Brandão E, Ruano L, Brandão AF, Lopes AM, Thieleke-Matos C, Miller-Fleming L, Cruz VT, Barbosa M, Silveira I, Stevanin G, Pinto-Basto J, Sequeiros J, Alonso I, Coutinho P.
    JAMA Neurol; 2013 Apr; 70(4):481-7. PubMed ID: 23400676
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  • 34. Hereditary spastic paraplegia in Greece: characterisation of a previously unexplored population using next-generation sequencing.
    Lynch DS, Koutsis G, Tucci A, Panas M, Baklou M, Breza M, Karadima G, Houlden H.
    Eur J Hum Genet; 2016 Jun; 24(6):857-63. PubMed ID: 26374131
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  • 36. [Ataxias and hereditary spastic paraplegias].
    Schüle R, Schöls L.
    Nervenarzt; 2017 Jul; 88(7):720-727. PubMed ID: 28600743
    [Abstract] [Full Text] [Related]

  • 37. Screening for the hereditary spastic paraplaegias SPG4 and SPG3A with the multiplex ligation-dependent probe amplification technique in a large population of affected individuals.
    Sulek A, Elert E, Rajkiewicz M, Zdzienicka E, Stepniak I, Krysa W, Zaremba J.
    Neurol Sci; 2013 Feb; 34(2):239-42. PubMed ID: 22203332
    [Abstract] [Full Text] [Related]

  • 38. Spastin mutation screening in Chinese patients with pure hereditary spastic paraplegia.
    Wei QQ, Chen Y, Zheng ZZ, Chen X, Huang R, Yang Y, Burgunder J, Shang HF.
    Parkinsonism Relat Disord; 2014 Aug; 20(8):845-9. PubMed ID: 24824479
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