These tools will no longer be maintained as of December 31, 2024. Archived website can be found here. PubMed4Hh GitHub repository can be found here. Contact NLM Customer Service if you have questions.


BIOMARKERS

Molecular Biopsy of Human Tumors

- a resource for Precision Medicine *

212 related articles for article (PubMed ID: 8634712)

  • 21. A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.
    Tysoe C; Whittaker J; Xuereb J; Cairns NJ; Cruts M; Van Broeckhoven C; Wilcock G; Rubinsztein DC
    Am J Hum Genet; 1998 Jan; 62(1):70-6. PubMed ID: 9443865
    [TBL] [Abstract][Full Text] [Related]  

  • 22. The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease.
    Larner AJ; Ray PS; Doran M
    J Neurol Sci; 2007 Jan; 252(2):173-6. PubMed ID: 17188713
    [TBL] [Abstract][Full Text] [Related]  

  • 23. De novo presenilin 1 mutations are rare in clinically sporadic, early onset Alzheimer's disease cases. French Alzheimer's Disease Study Group.
    Dumanchin C; Brice A; Campion D; Hannequin D; Martin C; Moreau V; Agid Y; Martinez M; Clerget-Darpoux F; Frebourg T
    J Med Genet; 1998 Aug; 35(8):672-3. PubMed ID: 9719376
    [TBL] [Abstract][Full Text] [Related]  

  • 24. A mutation in Alzheimer's disease destroying a splice acceptor site in the presenilin-1 gene.
    Perez-Tur J; Froelich S; Prihar G; Crook R; Baker M; Duff K; Wragg M; Busfield F; Lendon C; Clark RF
    Neuroreport; 1995 Dec; 7(1):297-301. PubMed ID: 8742474
    [TBL] [Abstract][Full Text] [Related]  

  • 25. Pathogenic presenilin 1 mutations (P436S & I143F) in early-onset Alzheimer's disease in the UK. Mutations in brief no. 223. Online.
    Palmer MS; Beck JA; Campbell TA; Humphries CB; Roques PK; Fox NC; Harvey R; Rossor MN; Collinge J
    Hum Mutat; 1999; 13(3):256. PubMed ID: 10090481
    [TBL] [Abstract][Full Text] [Related]  

  • 26. 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
    [TBL] [Abstract][Full Text] [Related]  

  • 27. Molecular evidence of presenilin 1 mutation in familial early onset dementia.
    Matsubara-Tsutsui M; Yasuda M; Yamagata H; Nomura T; Taguchi K; Kohara K; Miyoshi K; Miki T
    Am J Med Genet; 2002 Apr; 114(3):292-8. PubMed ID: 11920851
    [TBL] [Abstract][Full Text] [Related]  

  • 28. Splicing mutation of presenilin-1 gene for early-onset familial Alzheimer's disease.
    Sato S; Kamino K; Miki T; Doi A; Ii K; St George-Hyslop PH; Ogihara T; Sakaki Y
    Hum Mutat; 1998; Suppl 1():S91-4. PubMed ID: 9452052
    [No Abstract]   [Full Text] [Related]  

  • 29. 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; 42(10):793-5. PubMed ID: 16033913
    [TBL] [Abstract][Full Text] [Related]  

  • 30. Genetics of early-onset Alzheimer dementia.
    Rademakers R; Cruts M; Van Broeckhoven C
    ScientificWorldJournal; 2003 Jun; 3():497-519. PubMed ID: 12847300
    [TBL] [Abstract][Full Text] [Related]  

  • 31. Detection of the presenilin 1 gene mutation (M139T) in early-onset familial Alzheimer disease in Spain.
    Queralt R; Ezquerra M; Castellví M; Lleó A; Blesa R; Oliva R
    Neurosci Lett; 2001 Feb; 299(3):239-41. PubMed ID: 11165779
    [TBL] [Abstract][Full Text] [Related]  

  • 32. Three different mutations of presenilin 1 gene in early-onset Alzheimer's disease families.
    Kamino K; Sato S; Sakaki Y; Yoshiiwa A; Nishiwaki Y; Takeda M; Tanabe H; Nishimura T; Ii K; St George-Hyslop PH; Miki T; Ogihara T
    Neurosci Lett; 1996 Apr; 208(3):195-8. PubMed ID: 8733303
    [TBL] [Abstract][Full Text] [Related]  

  • 33. A further presenilin 1 mutation in the exon 8 cluster in familial Alzheimer's disease.
    Perez-Tur J; Croxton R; Wright K; Phillips H; Zehr C; Crook R; Hutton M; Hardy J; Karran E; Roberts GW; Lancaster S; Haltia T
    Neurodegeneration; 1996 Sep; 5(3):207-12. PubMed ID: 8910898
    [TBL] [Abstract][Full Text] [Related]  

  • 34. Screening for presenilin-1 gene mutations by PCR-SSCP analysis in patients with early-onset Alzheimer's disease.
    Kowalska A; Florczak J; Pruchnik-Wolińska D; Hertmanowska H; Wender M
    Folia Neuropathol; 1998; 36(1):32-7. PubMed ID: 9595861
    [TBL] [Abstract][Full Text] [Related]  

  • 35. 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; 14(5):433-9. PubMed ID: 10533070
    [TBL] [Abstract][Full Text] [Related]  

  • 36. A novel missense mutation in the presenilin-1 gene in a familial Alzheimer's disease pedigree with abundant amyloid angiopathy.
    Yasuda M; Maeda K; Ikejiri Y; Kawamata T; Kuroda S; Tanaka C
    Neurosci Lett; 1997 Aug; 232(1):29-32. PubMed ID: 9292884
    [TBL] [Abstract][Full Text] [Related]  

  • 37. Two novel presenilin-1 mutations (Y256S and Q222H) are associated with early-onset Alzheimer's disease.
    Miklossy J; Taddei K; Suva D; Verdile G; Fonte J; Fisher C; Gnjec A; Ghika J; Suard F; Mehta PD; McLean CA; Masters CL; Brooks WS; Martins RN
    Neurobiol Aging; 2003 Sep; 24(5):655-62. PubMed ID: 12885573
    [TBL] [Abstract][Full Text] [Related]  

  • 38. Familial Alzheimer's disease co-segregates with a Met146I1e substitution in presenilin-1.
    Jørgensen P; Bus C; Pallisgaard N; Bryder M; Jørgensen AL
    Clin Genet; 1996 Nov; 50(5):281-6. PubMed ID: 9007311
    [TBL] [Abstract][Full Text] [Related]  

  • 39. Genetic variability in the regulatory region of presenilin 1 associated with risk for Alzheimer's disease and variable expression.
    Theuns J; Del-Favero J; Dermaut B; van Duijn CM; Backhovens H; Van den Broeck MV; Serneels S; Corsmit E; Van Broeckhoven CV; Cruts M
    Hum Mol Genet; 2000 Feb; 9(3):325-31. PubMed ID: 10655540
    [TBL] [Abstract][Full Text] [Related]  

  • 40. Amyloid precursor protein gene analysis in familial Alzheimer's disease cases: a lack of mutations in exons 16 and 17.
    Kowalska A; Pruchnik-Wolińska D; Florczak J; Szczech J; Kozubski W; Rossa G; Wender M
    Folia Neuropathol; 2004; 42(1):1-7. PubMed ID: 15119738
    [TBL] [Abstract][Full Text] [Related]  

    [Previous]   [Next]    [New Search]
    of 11.