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257 related items for PubMed ID: 19073399

  • 1. Three-year follow-up of a patient with early-onset Alzheimer's disease with presenilin-2 N141I mutation - case report and review of the literature.
    Nikisch G, Hertel A, Kiessling B, Wagner T, Krasz D, Hofmann E, Wiedemann G.
    Eur J Med Res; 2008 Dec 03; 13(12):579-84. PubMed ID: 19073399
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  • 2. [Familial Alzheimer's disease with presenilin 2 N141I mutation. A case report].
    Nikisch G, Wiedemann G, Kiessling B, Hertel A.
    Fortschr Neurol Psychiatr; 2008 Oct 03; 76(10):606-9. PubMed ID: 18833506
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  • 3. A novel mutation in the PSEN2 gene (T430M) associated with variable expression in a family with early-onset Alzheimer disease.
    Ezquerra M, Lleó A, Castellví M, Queralt R, Santacruz P, Pastor P, Molinuevo JL, Blesa R, Oliva R.
    Arch Neurol; 2003 Aug 03; 60(8):1149-51. PubMed ID: 12925374
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  • 4. APP, PSEN1, and PSEN2 mutations in early-onset Alzheimer disease: A genetic screening study of familial and sporadic cases.
    Lanoiselée HM, Nicolas G, Wallon D, Rovelet-Lecrux A, Lacour M, Rousseau S, Richard AC, Pasquier F, Rollin-Sillaire A, Martinaud O, Quillard-Muraine M, de la Sayette V, Boutoleau-Bretonniere C, Etcharry-Bouyx F, Chauviré V, Sarazin M, le Ber I, Epelbaum S, Jonveaux T, Rouaud O, Ceccaldi M, Félician O, Godefroy O, Formaglio M, Croisile B, Auriacombe S, Chamard L, Vincent JL, Sauvée M, Marelli-Tosi C, Gabelle A, Ozsancak C, Pariente J, Paquet C, Hannequin D, Campion D, collaborators of the CNR-MAJ project.
    PLoS Med; 2017 Mar 03; 14(3):e1002270. PubMed ID: 28350801
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  • 7. Pilot whole-exome sequencing of a German early-onset Alzheimer's disease cohort reveals a substantial frequency of PSEN2 variants.
    Blauwendraat C, Wilke C, Jansen IE, Schulte C, Simón-Sánchez J, Metzger FG, Bender B, Gasser T, Maetzler W, Rizzu P, Heutink P, Synofzik M.
    Neurobiol Aging; 2016 Jan 03; 37():208.e11-208.e17. PubMed ID: 26522186
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  • 10. Identification of PSEN2 mutation p.N141I in Argentine pedigrees with early-onset familial Alzheimer's disease.
    Muchnik C, Olivar N, Dalmasso MC, Azurmendi PJ, Liberczuk C, Morelli L, Brusco LI.
    Neurobiol Aging; 2015 Oct 03; 36(10):2674-7.e1. PubMed ID: 26166204
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  • 11. A Possible Pathogenic PSEN2 Gly56Ser Mutation in a Korean Patient with Early-Onset Alzheimer's Disease.
    Shim KH, Kang MJ, Bae H, Kim D, Park J, An SA, Jeong DE.
    Int J Mol Sci; 2022 Mar 09; 23(6):. PubMed ID: 35328387
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  • 12. A pathogenic PSEN2 p.His169Asn mutation associated with early-onset Alzheimer's disease.
    Giau VV, Pyun JM, Bagyinszky E, An SSA, Kim S.
    Clin Interv Aging; 2018 Mar 09; 13():1321-1329. PubMed ID: 30104866
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  • 13. Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.
    Campion D, Dumanchin C, Hannequin D, Dubois B, Belliard S, Puel M, Thomas-Anterion C, Michon A, Martin C, Charbonnier F, Raux G, Camuzat A, Penet C, Mesnage V, Martinez M, Clerget-Darpoux F, Brice A, Frebourg T.
    Am J Hum Genet; 1999 Sep 09; 65(3):664-70. PubMed ID: 10441572
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  • 14. 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 09; 184(2):991-6. PubMed ID: 14769392
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  • 15. Two-year follow-up of amyloid deposition in patients with Alzheimer's disease.
    Engler H, Forsberg A, Almkvist O, Blomquist G, Larsson E, Savitcheva I, Wall A, Ringheim A, Långström B, Nordberg A.
    Brain; 2006 Nov 09; 129(Pt 11):2856-66. PubMed ID: 16854944
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  • 16. Effects of memantine on clinical ratings, fluorodeoxyglucose positron emission tomography measurements, and cerebrospinal fluid assays in patients with moderate to severe Alzheimer dementia: a 24-week, randomized, clinical trial.
    Wang T, Huang Q, Reiman EM, Chen K, Li X, Li G, Lin Z, Li C, Xiao S.
    J Clin Psychopharmacol; 2013 Oct 09; 33(5):636-42. PubMed ID: 23948786
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  • 17. Alzheimer's disease phenotypes and genotypes associated with mutations in presenilin 2.
    Jayadev S, Leverenz JB, Steinbart E, Stahl J, Klunk W, Yu CE, Bird TD.
    Brain; 2010 Apr 09; 133(Pt 4):1143-54. PubMed ID: 20375137
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  • 18. Previously unrecognized missense mutation E126K of PSEN2 segregates with early onset Alzheimer's disease in a family.
    Müller U, Winter P, Bolender C, Nolte D.
    J Alzheimers Dis; 2014 Apr 09; 42(1):109-13. PubMed ID: 24844686
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  • 19. Systematic genetic study of Alzheimer disease in Latin America: mutation frequencies of the amyloid beta precursor protein and presenilin genes in Colombia.
    Arango D, Cruts M, Torres O, Backhovens H, Serrano ML, Villareal E, Montañes P, Matallana D, Cano C, Van Broeckhoven C, Jacquier M.
    Am J Med Genet; 2001 Oct 01; 103(2):138-43. PubMed ID: 11568920
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  • 20. PSEN1 mutation carriers present lower cerebrospinal fluid amyoid-β42 levels than sporadic early-onset Alzheimer's disease patients but no differences in neuronal injury biomarkers.
    Balasa M, Vidal-Piñeiro D, Lladó A, Antonell A, Bosch B, Castellanos F, Bargalló N, Bartres-Faz D, Molinuevo JL, Sánchez-Valle R.
    J Alzheimers Dis; 2012 Oct 01; 30(3):605-16. PubMed ID: 22426017
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