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Journal Abstract Search

130 related items for PubMed ID: 36537231

  • 1. Copy number variations in SPAST and ATL1 are rare among Brazilians.
    Fussiger H, Pereira BLDS, Padilha JPD, Donis KC, Rare-Genomes Project ConsortiumHospital Israelita Albert Einstein, São Paulo, Brazil., Siebert M, Brusius-Facchin AC, Baldo G, Saute JAM.
    Clin Genet; 2023 May; 103(5):580-584. PubMed ID: 36537231
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  • 2. Mutational Spectrum of Spast (Spg4) and Atl1 (Spg3a) Genes In Russian Patients With Hereditary Spastic Paraplegia.
    Kadnikova VA, Rudenskaya GE, Stepanova AA, Sermyagina IG, Ryzhkova OP.
    Sci Rep; 2019 Oct 08; 9(1):14412. PubMed ID: 31594988
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  • 4. Genetic, structural and clinical analysis of spastic paraplegia 4.
    Varghaei P, Estiar MA, Ashtiani S, Veyron S, Mufti K, Leveille E, Yu E, Spiegelman D, Rioux MF, Yoon G, Tarnopolsky M, Boycott KM, Dupre N, Suchowersky O, Trempe JF, Rouleau GA, Gan-Or Z.
    Parkinsonism Relat Disord; 2022 May 08; 98():62-69. PubMed ID: 35487127
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  • 5. 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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  • 6. Mutational spectrum of the SPG4 (SPAST) and SPG3A (ATL1) genes in Spanish patients with hereditary spastic paraplegia.
    Alvarez V, Sánchez-Ferrero E, Beetz C, Díaz M, Alonso B, Corao AI, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López de Munain A, Moris G, Ribacoba R, Márquez C, Rosell J, Marín R, García-Barcina MJ, Del Castillo E, Benito C, Coto E, Group for the Study of the Genetics of Spastic Paraplegia.
    BMC Neurol; 2010 Oct 08; 10():89. PubMed ID: 20932283
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  • 9. Anticipation Can Be More Common in Hereditary Spastic Paraplegia with SPAST Mutations Than It Appears.
    Hashemi SS, Hajati R, Davarzani A, Rohani M, DanaeeFard F, Rahimi Bidgoli MM, Fatehi F, Kariminejad A, Najmabadi H, Nafissi S, Alavi A.
    Can J Neurol Sci; 2022 Sep 08; 49(5):651-661. PubMed ID: 34353391
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  • 11. 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 08; 34(2):239-42. PubMed ID: 22203332
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  • 12. 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 08; 39(4):651-662. PubMed ID: 38291924
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  • 14. Molecular spectrum of the SPAST, ATL1 and REEP1 gene mutations associated with the most common hereditary spastic paraplegias in a group of Polish patients.
    Elert-Dobkowska E, Stepniak I, Krysa W, Rajkiewicz M, Rakowicz M, Sobanska A, Rudzinska M, Wasielewska A, Pilch J, Kubalska J, Lipczynska-Lojkowska W, Kulczycki J, Kurdziel K, Sikorska A, Beetz C, Zaremba J, Sulek A.
    J Neurol Sci; 2015 Dec 15; 359(1-2):35-9. PubMed ID: 26671083
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  • 15. 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
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  • 19. 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 15; 14(4):176-83. PubMed ID: 25341883
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