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Journal Abstract Search

298 related items for PubMed ID: 36456515

  • 21. SPAST Intragenic CNVs Lead to Hereditary Spastic Paraplegia via a Haploinsufficiency Mechanism.
    Elert-Dobkowska E, Stepniak I, Radziwonik-Fraczyk W, Jahic A, Beetz C, Sulek A.
    Int J Mol Sci; 2024 May 03; 25(9):. PubMed ID: 38732227
    [Abstract] [Full Text] [Related]

  • 22. [A case of spastic paraplegia with SPG4 and SPG3 associated mutations].
    Rudenskaya GE, Kuchina AS, Kadnikova VA, Ryzhkova OP.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2023 May 03; 123(5):171-176. PubMed ID: 37315258
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  • 24. 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
    [Abstract] [Full Text] [Related]

  • 25. 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 15; 260(10):2516-22. PubMed ID: 23812641
    [Abstract] [Full Text] [Related]

  • 26. 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
    [Abstract] [Full Text] [Related]

  • 27. Amplifying the spectrum of SPAST gene mutations.
    Verriello L, Lonigro IR, Pessa ME, Betto E, Pauletto G, Fogolari F, Gigli GL, Curcio F.
    Acta Biomed; 2021 Nov 18; 92(S1):e2021220. PubMed ID: 35132972
    [Abstract] [Full Text] [Related]

  • 28. 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
    [Abstract] [Full Text] [Related]

  • 29. 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 15; 106(1):56-65. PubMed ID: 38403837
    [Abstract] [Full Text] [Related]

  • 30. Case report on novel mutation in SPAST gene in Polish family with spastic paraplegia.
    Klimkowicz-Mrowiec A, Dziubek A, Sado M, Karpiński M, Gorzkowska A.
    BMC Neurol; 2019 Dec 14; 19(1):322. PubMed ID: 31837705
    [Abstract] [Full Text] [Related]

  • 31. [Hereditary spastic paraplegia type 4 (SPG4) in Russian patients].
    Rudenskaya GE, Kadnikova VA, Sidorova OP, Beetz C, Illarioshkin SN, Dadaly EL, Proskokova TN, Ryzhkova OP.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2019 Dec 14; 119(11):11-20. PubMed ID: 31851166
    [Abstract] [Full Text] [Related]

  • 32. Missense mutation of SPAST protein (I344K) results in loss of ATPase activity and prolonged the half-life, implicated in autosomal dominant hereditary spastic paraplegia.
    Lim JH, Kang HM, Jung HR, Kim DS, Noh KH, Chang TK, Kim BJ, Sung DH, Cho HS, Chung KS, Kim NS, Jung CR.
    Biochim Biophys Acta Mol Basis Dis; 2018 Oct 14; 1864(10):3221-3233. PubMed ID: 30006150
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  • 34. 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 14; 20(1):27-38. PubMed ID: 30778698
    [Abstract] [Full Text] [Related]

  • 35. [Clinical characteristics and variant analysis of five pedigrees with hereditary spastic paraplegia].
    Xie Y, Xia Y, Sun Z, Gu L, Bai Z, Kong X.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2020 Jul 10; 37(7):709-712. PubMed ID: 32619247
    [Abstract] [Full Text] [Related]

  • 36. Genetic background of the hereditary spastic paraplegia phenotypes in Hungary - An analysis of 58 probands.
    Balicza P, Grosz Z, Gonzalez MA, Bencsik R, Pentelenyi K, Gal A, Varga E, Klivenyi P, Koller J, Züchner S, Molnar JM.
    J Neurol Sci; 2016 May 15; 364():116-21. PubMed ID: 27084228
    [Abstract] [Full Text] [Related]

  • 37. Clinical and genetic analysis of four Taiwanese families with autosomal dominant hereditary spastic paraplegia.
    Lan MY, Fu SC, Chang YY, Wu-Chou YH, Lai SC, Chen RS, Lu CS.
    J Formos Med Assoc; 2012 Jul 15; 111(7):380-5. PubMed ID: 22817815
    [Abstract] [Full Text] [Related]

  • 38. Alu-specific microhomology-mediated deletion of the final exon of SPAST in three unrelated subjects with hereditary spastic paraplegia.
    Boone PM, Liu P, Zhang F, Carvalho CM, Towne CF, Batish SD, Lupski JR.
    Genet Med; 2011 Jun 15; 13(6):582-92. PubMed ID: 21659953
    [Abstract] [Full Text] [Related]

  • 39. [Hereditary spastic paraplegia type 4 (SPG4): clinical and molecular-genetic characteristics].
    Rudenskaia GE, Sermiagina IG, Illarioshkin SN, Sidorova OP, Fedotov VP, Poliakov AV.
    Zh Nevrol Psikhiatr Im S S Korsakova; 2010 Jun 15; 110(6):12-9. PubMed ID: 20559269
    [Abstract] [Full Text] [Related]

  • 40. 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
    [Abstract] [Full Text] [Related]

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