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Journal Abstract Search

366 related items for PubMed ID: 31594988

  • 21. High frequency of partial SPAST deletions in autosomal dominant hereditary spastic paraplegia.
    Beetz C, Nygren AO, Schickel J, Auer-Grumbach M, Bürk K, Heide G, Kassubek J, Klimpe S, Klopstock T, Kreuz F, Otto S, Schüle R, Schöls L, Sperfeld AD, Witte OW, Deufel T.
    Neurology; 2006 Dec 12; 67(11):1926-30. PubMed ID: 17035675
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  • 22. Novel mutations in the SPAST gene cause hereditary spastic paraplegia.
    Zhu Z, Zhang C, Zhao G, Liu Q, Zhong P, Zhang M, Tang W, Zhan F, Tian W, Wang Y, Yin K, Huang X, Jiang J, Liu X, Liu S, Zhou H, Luan X, Tang H, Wang Y, Chen S, Cao L.
    Parkinsonism Relat Disord; 2019 Dec 12; 69():125-133. PubMed ID: 31751864
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  • 24. Mutation analysis of four Chinese families with pure hereditary spastic paraplegia: pseudo- X-linked dominant inheritance and male lethality due to a novel ATL1 mutation.
    Zhao N, Sui Y, Li XF, Liu W, Lu YP, Feng WH, Ma C, Wang YW, Bao HX, Huang F, Wang H, Yi DX, Han WT, Jiang M.
    Genet Mol Res; 2015 Nov 23; 14(4):14690-7. PubMed ID: 26600529
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  • 30. A novel missense mutation in SPAST causes hereditary spastic paraplegia in male members of a family: A case report.
    Wang XC, Liu RH, Wang T, Wang Y, Jiang Y, Chen DD, Wang XY, Hou TS, Kong QX.
    Mol Med Rep; 2023 Apr 23; 27(4):. PubMed ID: 36825575
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  • 32. Spastin accumulation and motor neuron defects caused by a novel SPAST splice site mutation.
    Luo M, Wang Y, Liang J, Wan X.
    J Transl Med; 2024 Sep 27; 22(1):872. PubMed ID: 39334479
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  • 34. Targeted next generation sequencing in SPAST-negative hereditary spastic paraplegia.
    Kumar KR, Blair NF, Vandebona H, Liang C, Ng K, Sharpe DM, Grünewald A, Gölnitz U, Saviouk V, Rolfs A, Klein C, Sue CM.
    J Neurol; 2013 Oct 27; 260(10):2516-22. PubMed ID: 23812641
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  • 35. Clinical and genetic characteristics in a Chinese cohort of complex spastic paraplegia type 4.
    Yao L, Cao Y, Zhang C, Huang X, Tian W, Cao L.
    Clin Genet; 2024 Jul 27; 106(1):56-65. PubMed ID: 38403837
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  • 36. 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 Jul 27; 14(4):176-83. PubMed ID: 25341883
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  • 38. Unique spectrum of SPAST variants in Estonian HSP patients: presence of benign missense changes but lack of exonic rearrangements.
    Braschinsky M, Tamm R, Beetz C, Sachez-Ferrero E, Raukas E, Lüüs SM, Gross-Paju K, Boillot C, Canzian F, Metspalu A, Haldre S.
    BMC Neurol; 2010 Mar 09; 10():17. PubMed ID: 20214791
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  • 40. Mutation analysis of SPAST, ATL1, and REEP1 in Korean Patients with Hereditary Spastic Paraplegia.
    Kim TH, Lee JH, Park YE, Shin JH, Nam TS, Kim HS, Jang HJ, Semenov A, Kim SJ, Kim DS.
    J Clin Neurol; 2014 Jul 09; 10(3):257-61. PubMed ID: 25045380
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