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Journal Abstract Search


322 related items for PubMed ID: 26208798

  • 21. SPAST mutation spectrum and familial occurrence among Czech patients with pure hereditary spastic paraplegia.
    Mészárosová AU, Putzová M, Čermáková M, Vávrová D, Doležalová K, Smetanová I, Stejskal D, Beetz C, Seeman P.
    J Hum Genet; 2016 Oct; 61(10):845-850. PubMed ID: 27334366
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  • 22. Clinical and genetic characterization of hereditary spastic paraplegia type 3A in Taiwan.
    Hsu SL, Hsueh HW, Chen SY, Chang YY, Tan S, Hong CT, Tsai YS, Yu KW, Wu HM, Liao YC, Soong BW, Hu CJ, Lan MY, Lee YC.
    Parkinsonism Relat Disord; 2021 Jun; 87():87-91. PubMed ID: 34015694
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  • 23. 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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  • 24. Genetic and Clinical Profile of Chinese Patients with Autosomal Dominant Spastic Paraplegia.
    Zhao M, Chen YJ, Wang MW, Lin XH, Dong EL, Chen WJ, Wang N, Lin X.
    Mol Diagn Ther; 2019 Dec 09; 23(6):781-789. PubMed ID: 31630374
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  • 29. Truncating mutations in SPAST patients are associated with a high rate of psychiatric comorbidities in hereditary spastic paraplegia.
    Chelban V, Tucci A, Lynch DS, Polke JM, Santos L, Jonvik H, Groppa S, Wood NW, Houlden H.
    J Neurol Neurosurg Psychiatry; 2017 Aug 09; 88(8):681-687. PubMed ID: 28572275
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  • 31. 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 09; 20(1):27-38. PubMed ID: 30778698
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  • 32. 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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  • 33. 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 12; 260(10):2516-22. PubMed ID: 23812641
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  • 34. Mutation analysis of the spastin gene (SPG4) in patients in Germany with autosomal dominant hereditary spastic paraplegia.
    Sauter S, Miterski B, Klimpe S, Bönsch D, Schöls L, Visbeck A, Papke T, Hopf HC, Engel W, Deufel T, Epplen JT, Neesen J.
    Hum Mutat; 2002 Aug 12; 20(2):127-32. PubMed ID: 12124993
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  • 40. Early-Onset and Severe Complex Hereditary Spastic Paraplegia Caused by De Novo Variants in SPAST.
    Mo A, Saffari A, Kellner M, Döbler-Neumann M, Jordan C, Srivastava S, Zhang B, Sahin M, Fink JK, Smith L, Posey JE, Alter KE, Toro C, Blackstone C, Soldatos AG, Christie M, Schüle R, Ebrahimi-Fakhari D.
    Mov Disord; 2022 Dec 12; 37(12):2440-2446. PubMed ID: 36103453
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