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250 related items for PubMed ID: 12817569

  • 1. Molecular genetics of Alzheimer's disease: presenilin 1 gene analysis in a cohort of patients from the Poznań region.
    Kowalska A, Wender M, Florczak J, Pruchnik-Wolinska D, Modestowicz R, Szczech J, Rossa G, Kozubski W.
    J Appl Genet; 2003; 44(2):231-4. PubMed ID: 12817569
    [Abstract] [Full Text] [Related]

  • 2. Mutations in presenilin 1, presenilin 2 and amyloid precursor protein genes in patients with early-onset Alzheimer's disease in Poland.
    Zekanowski C, Styczyńska M, Pepłońska B, Gabryelewicz T, Religa D, Ilkowski J, Kijanowska-Haładyna B, Kotapka-Minc S, Mikkelsen S, Pfeffer A, Barczak A, Łuczywek E, Wasiak B, Chodakowska-Zebrowska M, Gustaw K, Łaczkowski J, Sobów T, Kuźnicki J, Barcikowska M.
    Exp Neurol; 2003 Dec; 184(2):991-6. PubMed ID: 14769392
    [Abstract] [Full Text] [Related]

  • 3. Missense mutation in exon 11 (Codon 378) of the presenilin-1 gene in a French family with early-onset Alzheimer's disease and transmission study by mismatch enhanced allele specific amplification. Mutations in brief no. 141. Online. besancon@rockefeller1.univ.lyon1.fr.
    Besançon R, Lorenzi A, Cruts M, Radawiec S, Sturtz F, Broussolle E, Chazot G, van Broeckhoven C, Chamba G, Vandenberghe A.
    Hum Mutat; 1998 Dec; 11(6):481. PubMed ID: 10200054
    [Abstract] [Full Text] [Related]

  • 4. Presenilin-1 protein expression in familial and sporadic Alzheimer's disease.
    Levey AI, Heilman CJ, Lah JJ, Nash NR, Rees HD, Wakai M, Mirra SS, Rye DB, Nochlin D, Bird TD, Mufson EJ.
    Ann Neurol; 1997 Jun; 41(6):742-53. PubMed ID: 9189035
    [Abstract] [Full Text] [Related]

  • 5. Novel presenilin 1 mutation with profound neurofibrillary pathology in an indigenous Southern African family with early-onset Alzheimer's disease.
    Heckmann JM, Low WC, de Villiers C, Rutherfoord S, Vorster A, Rao H, Morris CM, Ramesar RS, Kalaria RN.
    Brain; 2004 Jan; 127(Pt 1):133-42. PubMed ID: 14570818
    [Abstract] [Full Text] [Related]

  • 6. Missense mutations in the chromosome 14 familial Alzheimer's disease presenilin 1 gene.
    Poorkaj P, Sharma V, Anderson L, Nemens E, Alonso ME, Orr H, White J, Heston L, Bird TD, Schellenberg GD.
    Hum Mutat; 1998 Jan; 11(3):216-21. PubMed ID: 9521423
    [Abstract] [Full Text] [Related]

  • 7. A novel presenilin-1 mutation: increased beta-amyloid and neurofibrillary changes.
    Gómez-Isla T, Wasco W, Pettingell WP, Gurubhagavatula S, Schmidt SD, Jondro PD, McNamara M, Rodes LA, DiBlasi T, Growdon WB, Seubert P, Schenk D, Growdon JH, Hyman BT, Tanzi RE.
    Ann Neurol; 1997 Jun; 41(6):809-13. PubMed ID: 9189043
    [Abstract] [Full Text] [Related]

  • 8. Novel presenilin mutations within Moroccan patients with Early-Onset Alzheimer's Disease.
    El Kadmiri N, Zaid N, Zaid Y, Tadevosyan A, Hachem A, Dubé MP, Hamzi K, El Moutawakil B, Slassi I, Nadifi S.
    Neuroscience; 2014 Jun 06; 269():215-22. PubMed ID: 24704512
    [Abstract] [Full Text] [Related]

  • 9. Germline mutational analysis of presenilin 1 and APP genes in Jewish-Israeli individuals with familial or early-onset Alzheimer disease using denaturing gradient gel electrophoresis (DGGE).
    Reznik-Wolf H, Treves TA, Shabtai H, Aharon-Peretz J, Chapman J, Davidson M, Barkai G, Hyslop PH, Goldman B, Korczyn AD, Friedman E.
    Eur J Hum Genet; 1998 Jun 06; 6(2):176-80. PubMed ID: 9781063
    [Abstract] [Full Text] [Related]

  • 10. Identification of a novel 4.6-kb genomic deletion in presenilin-1 gene which results in exclusion of exon 9 in a Finnish early onset Alzheimer's disease family: an Alu core sequence-stimulated recombination?
    Hiltunen M, Helisalmi S, Mannermaa A, Alafuzoff I, Koivisto AM, Lehtovirta M, Pirskanen M, Sulkava R, Verkkoniemi A, Soininen H.
    Eur J Hum Genet; 2000 Apr 06; 8(4):259-66. PubMed ID: 10854108
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  • 13. Molecular diagnosis of autosomal dominant early onset Alzheimer's disease: an update.
    Raux G, Guyant-Maréchal L, Martin C, Bou J, Penet C, Brice A, Hannequin D, Frebourg T, Campion D.
    J Med Genet; 2005 Oct 06; 42(10):793-5. PubMed ID: 16033913
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  • 14. Novel presenilin 1 mutation (S170F) causing Alzheimer disease with Lewy bodies in the third decade of life.
    Snider BJ, Norton J, Coats MA, Chakraverty S, Hou CE, Jervis R, Lendon CL, Goate AM, McKeel DW, Morris JC.
    Arch Neurol; 2005 Dec 06; 62(12):1821-30. PubMed ID: 16344340
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  • 15. DGGE method for the mutational analysis of the coding and proximal promoter regions of the Alzheimer's disease presenilin-1 gene: two novel mutations.
    Aldudo J, Bullido MJ, Valdivieso F.
    Hum Mutat; 1999 Dec 06; 14(5):433-9. PubMed ID: 10533070
    [Abstract] [Full Text] [Related]

  • 16. Presenilins and early-onset familial Alzheimer's disease.
    Rohan de Silva HA, Patel AJ.
    Neuroreport; 1997 May 27; 8(8):i-xii. PubMed ID: 9223053
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  • 17. Alzheimer's disease pathogenesis and therapeutic interventions.
    Parihar MS, Hemnani T.
    J Clin Neurosci; 2004 Jun 27; 11(5):456-67. PubMed ID: 15177383
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  • 19. The E318G substitution in PSEN1 gene is not connected with Alzheimer's disease in a large Polish cohort.
    Zekanowski C, Pepłońska B, Styczyńska M, Religa D, Pfeffer A, Czyzewski K, Gabryelewicz T, Szybińska A, Kijanowska-Haładyna B, Kotapka-Minc S, Łuczywek E, Barczak A, Wasiak B, Chodakowska-Zebrowska M, Przekop I, Kuźnicki J, Barcikowska M.
    Neurosci Lett; 2004 Mar 11; 357(3):167-70. PubMed ID: 15003276
    [Abstract] [Full Text] [Related]

  • 20. Genotype-phenotype analysis in early-onset Alzheimer's disease due to presenilin-1 mutations at codon 139.
    Hanisch F, Kölmel HW.
    Eur J Med Res; 2004 Jul 30; 9(7):361-4. PubMed ID: 15337637
    [Abstract] [Full Text] [Related]

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