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Journal Abstract Search

271 related items for PubMed ID: 12566514

  • 1. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
    Reid E.
    J Med Genet; 2003 Feb; 40(2):81-6. PubMed ID: 12566514
    [Abstract] [Full Text] [Related]

  • 2. Molecular basis of inherited spastic paraplegias.
    Casari G, Rugarli E.
    Curr Opin Genet Dev; 2001 Jun; 11(3):336-42. PubMed ID: 11377972
    [Abstract] [Full Text] [Related]

  • 3. 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]

  • 4. Clinical and genetic findings in a series of Italian children with pure hereditary spastic paraplegia.
    Battini R, Fogli A, Borghetti D, Michelucci A, Perazza S, Baldinotti F, Conidi ME, Ferreri MI, Simi P, Cioni G.
    Eur J Neurol; 2011 Jan 15; 18(1):150-7. PubMed ID: 20550563
    [Abstract] [Full Text] [Related]

  • 5. Hereditary spastic paraplegia: the pace quickens.
    Fink JK.
    Ann Neurol; 2002 Jun 15; 51(6):669-72. PubMed ID: 12112070
    [No Abstract] [Full Text] [Related]

  • 6. [Hereditary spastic paraplegia].
    Kanda T, Kobayashi H.
    Nihon Rinsho; 2002 Apr 15; 60 Suppl 4():429-32. PubMed ID: 12013904
    [No Abstract] [Full Text] [Related]

  • 7. [AAA ATPases and hereditary spastic paraplegia].
    Wang YG, Shen L.
    Zhonghua Yi Xue Yi Chuan Xue Za Zhi; 2009 Jun 15; 26(3):298-301. PubMed ID: 19504443
    [Abstract] [Full Text] [Related]

  • 8. Hereditary spastic paraplegias.
    Lau KK, Ching CK, Mak CM, Chan YW.
    Hong Kong Med J; 2009 Jun 15; 15(3):217-20. PubMed ID: 19494379
    [Abstract] [Full Text] [Related]

  • 9. Locus and allelic heterogeneity in five families with hereditary spastic paraplegia.
    Hebbar M, Shukla A, Nampoothiri S, Bielas S, Girisha KM.
    J Hum Genet; 2019 Jan 15; 64(1):17-21. PubMed ID: 30337681
    [Abstract] [Full Text] [Related]

  • 10. Hereditary spastic paraplegia: clues from a rare disorder for a common problem?
    Burgunder JM, Hunziker W.
    IUBMB Life; 2003 Jun 15; 55(6):347-52. PubMed ID: 12938737
    [Abstract] [Full Text] [Related]

  • 11. 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
    [Abstract] [Full Text] [Related]

  • 12. Hereditary spastic paraplegia.
    Blackstone C.
    Handb Clin Neurol; 2018 Dec 15; 148():633-652. PubMed ID: 29478605
    [Abstract] [Full Text] [Related]

  • 13. 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 15; 20(2):127-32. PubMed ID: 12124993
    [Abstract] [Full Text] [Related]

  • 14. 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]

  • 15. Mitochondrial DNA polymorphisms/haplogroups in hereditary spastic paraplegia.
    Sánchez-Ferrero E, Coto E, Corao AI, Díaz M, Gámez J, Esteban J, Gonzalo JF, Pascual-Pascual SI, López De Munaín A, Morís G, Infante J, Del Castillo E, Márquez C, Alvarez V.
    J Neurol; 2012 Feb 15; 259(2):246-50. PubMed ID: 21725714
    [Abstract] [Full Text] [Related]

  • 16. Hereditary spastic paraplegias: an update.
    Depienne C, Stevanin G, Brice A, Durr A.
    Curr Opin Neurol; 2007 Dec 15; 20(6):674-80. PubMed ID: 17992088
    [Abstract] [Full Text] [Related]

  • 17. Hereditary spastic paraplegia SPG4: what is known and not known about the disease.
    Solowska JM, Baas PW.
    Brain; 2015 Sep 15; 138(Pt 9):2471-84. PubMed ID: 26094131
    [Abstract] [Full Text] [Related]

  • 18. Hereditary spastic paraplegia: spastin phenotype and function.
    Fink JK, Rainier S.
    Arch Neurol; 2004 Jun 15; 61(6):830-3. PubMed ID: 15210518
    [No Abstract] [Full Text] [Related]

  • 19. Clinical and pathologic findings in hereditary spastic paraparesis with spastin mutation.
    Mc Monagle P, Byrne P, Burke T, Parfrey N, Hutchinson M.
    Neurology; 2001 Jan 09; 56(1):139. PubMed ID: 11148263
    [No Abstract] [Full Text] [Related]

  • 20. Hereditary spastic paraplegia with cerebellar ataxia: a complex phenotype associated with a new SPG4 gene mutation.
    Nielsen JE, Johnsen B, Koefoed P, Scheuer KH, Grønbech-Jensen M, Law I, Krabbe K, Nørremølle A, Eiberg H, Søndergård H, Dam M, Rehfeld JF, Krarup C, Paulson OB, Hasholt L, Sørensen SA.
    Eur J Neurol; 2004 Dec 09; 11(12):817-24. PubMed ID: 15667412
    [Abstract] [Full Text] [Related]

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