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Journal Abstract Search

140 related items for PubMed ID: 12512341

  • 1. Hereditary spastic paraplegia.
    McDermott CJ, Shaw PJ.
    Int Rev Neurobiol; 2002; 53():191-204. PubMed ID: 12512341
    [No Abstract] [Full Text] [Related]

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

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

  • 4. A novel phenotype of hereditary spastic paraplegia type 7 associated with a compound heterozygous mutation in paraplegin.
    Mahoney CJ, Dharmadasa T, Huynh W, Halpern JP, Vucic S, Mowat D, Kiernan MC.
    Muscle Nerve; 2020 Jul; 62(1):E44-E45. PubMed ID: 32270516
    [No Abstract] [Full Text] [Related]

  • 5. Novel c.775_781dup,p(Thr261fs) mutation in SPG 7 gene in a patient with hereditary spastic paraparesis.
    Bhattacharjee S, Stinton V, Cairns D, Murray B.
    Neurol India; 2017 Jul; 65(5):1141-1142. PubMed ID: 28879915
    [No Abstract] [Full Text] [Related]

  • 6. 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; 259(2):246-50. PubMed ID: 21725714
    [Abstract] [Full Text] [Related]

  • 7. Hereditary spastic paraplegia caused by the novel mutation 1047insC in the SPG7 gene.
    Tzoulis C, Denora PS, Santorelli FM, Bindoff LA.
    J Neurol; 2008 Aug; 255(8):1142-4. PubMed ID: 18563470
    [Abstract] [Full Text] [Related]

  • 8. Novel homozygous SPG7 missense mutation in a Chinese hereditary spastic paraplegia family.
    Mao F, Bao M, Fan Y, Zhu M, Li X.
    Acta Neurol Belg; 2020 Dec; 120(6):1453-1455. PubMed ID: 32002796
    [No Abstract] [Full Text] [Related]

  • 9. Current insights into familial spastic paraparesis: new advances in an old disease.
    Fortini D, Cricchi F, Di Fabio R, Damiano M, Comanducci G, Benedetti L, Valoppi M, Grieco GS, D'Eugenio O, Celato A, Santorelli F, Casali C, Amabile GA, Pierelli F.
    Funct Neurol; 2003 Dec; 18(1):43-9. PubMed ID: 12760414
    [Abstract] [Full Text] [Related]

  • 10.
    ; . PubMed ID:
    [No Abstract] [Full Text] [Related]

  • 11. [Pathology of hereditary spastic paraplegia: SPG 11 and related disorders].
    Iwabuchi K.
    No To Shinkei; 2003 Sep; 55(9):748-54. PubMed ID: 14571836
    [No Abstract] [Full Text] [Related]

  • 12. 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]

  • 13. "Pure" hereditary spastic paraplegias: the story becomes complicated.
    Figlewicz DA, Bird TD.
    Neurology; 1999 Jul 13; 53(1):5-7. PubMed ID: 10408527
    [No Abstract] [Full Text] [Related]

  • 14. Autopsy case of autosomal recessive hereditary spastic paraplegia with reference to the muscular pathology.
    Nomura H, Koike F, Tsuruta Y, Iwaki A, Iwaki T.
    Neuropathology; 2001 Sep 13; 21(3):212-7. PubMed ID: 11666018
    [Abstract] [Full Text] [Related]

  • 15. Science in motion: common molecular pathological themes emerge in the hereditary spastic paraplegias.
    Reid E.
    J Med Genet; 2003 Feb 13; 40(2):81-6. PubMed ID: 12566514
    [Abstract] [Full Text] [Related]

  • 16. Impaired flickering of the permeability transition pore causes SPG7 spastic paraplegia.
    Sambri I, Massa F, Gullo F, Meneghini S, Cassina L, Carraro M, Dina G, Quattrini A, Patanella L, Carissimo A, Iuliano A, Santorelli F, Codazzi F, Grohovaz F, Bernardi P, Becchetti A, Casari G.
    EBioMedicine; 2020 Nov 13; 61():103050. PubMed ID: 33045469
    [Abstract] [Full Text] [Related]

  • 17. Molecular and functional analyses of the human and mouse genes encoding AFG3L1, a mitochondrial metalloprotease homologous to the human spastic paraplegia protein.
    Kremmidiotis G, Gardner AE, Settasatian C, Savoia A, Sutherland GR, Callen DF.
    Genomics; 2001 Aug 13; 76(1-3):58-65. PubMed ID: 11549317
    [Abstract] [Full Text] [Related]

  • 18. [Classification of hereditary spastic paraplegia (HSP)].
    Utsumi H, Yuasa T.
    No To Shinkei; 2003 Sep 13; 55(9):739-47. PubMed ID: 14571835
    [No Abstract] [Full Text] [Related]

  • 19. [Hereditary spastic paraplegias].
    Finsterer J.
    Nervenarzt; 2003 Jun 13; 74(6):497-504. PubMed ID: 12799788
    [Abstract] [Full Text] [Related]

  • 20. Molecular genetics of familial spastic paraplegia: a multitude of responsible genes.
    Kobayashi H, Garcia CA, Alfonso G, Marks HG, Hoffman EP.
    J Neurol Sci; 1996 May 13; 137(2):131-8. PubMed ID: 8782167
    [Abstract] [Full Text] [Related]

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