Literature DB >> 7585193

Familial Alzheimer's chromosome 14 mutations.

W Wasco, W P Pettingell, P D Jondro, S D Schmidt, S Gurubhagavatula, L Rodes, T DiBlasi, D M Romano, S Y Guenette, D M Kovacs.   

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Year:  1995        PMID： 7585193     DOI： 10.1038/nm0995-848a

Source DB:  PubMed          Journal:  Nat Med        ISSN： 1078-8956            Impact factor:   53.440


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  24 in total

1.  Identification of PSEN1 and PSEN2 gene mutations and variants in Turkish dementia patients.

Authors:  Ebba Lohmann; Rita J Guerreiro; Nihan Erginel-Unaltuna; Nicole Gurunlian; Basar Bilgic; Hakan Gurvit; Hasmet A Hanagasi; Nga Luu; Murat Emre; Andrew Singleton
Journal:  Neurobiol Aging       Date:  2012-04-13       Impact factor: 4.673

Review 2.  Genetics, transcriptomics, and proteomics of Alzheimer's disease.

Authors:  Andreas Papassotiropoulos; Michael Fountoulakis; Travis Dunckley; Dietrich A Stephan; Eric M Reiman
Journal:  J Clin Psychiatry       Date:  2006-04       Impact factor: 4.384

3.  Aggravated decrease in the activity of nucleus basalis neurons in Alzheimer's disease is apolipoprotein E-type dependent.

Authors:  A Salehi; E J Dubelaar; M Mulder; D F Swaab
Journal:  Proc Natl Acad Sci U S A       Date:  1998-09-15       Impact factor: 11.205

Review 4.  The role of the amyloid protein precursor (APP) in Alzheimer's disease: does the normal function of APP explain the topography of neurodegeneration?

Authors:  D H Small
Journal:  Neurochem Res       Date:  1998-05       Impact factor: 3.996

5.  Presenilin-1 P264L knock-in mutation: differential effects on abeta production, amyloid deposition, and neuronal vulnerability.

Authors:  R Siman; A G Reaume; M J Savage; S Trusko; Y G Lin; R W Scott; D G Flood
Journal:  J Neurosci       Date:  2000-12-01       Impact factor: 6.167

6.  Expression of presenilin 1 and 2 (PS1 and PS2) in human and murine tissues.

Authors:  M K Lee; H H Slunt; L J Martin; G Thinakaran; G Kim; S E Gandy; M Seeger; E Koo; D L Price; S S Sisodia
Journal:  J Neurosci       Date:  1996-12-01       Impact factor: 6.167

7.  Differentially expressed genes in transgenic mice carrying human mutant presenilin-2 (N141I): correlation of selenoprotein M with Alzheimer's disease.

Authors:  Dae Y Hwang; Jung S Cho; Jae H Oh; Sun B Shim; Seung W Jee; Su H Lee; Su J Seo; Sang-Koo Lee; Seok H Lee; Yong K Kim
Journal:  Neurochem Res       Date:  2005-08       Impact factor: 3.996

8.  The presenilin 2 mutation (N141I) linked to familial Alzheimer disease (Volga German families) increases the secretion of amyloid beta protein ending at the 42nd (or 43rd) residue.

Authors:  T Tomita; K Maruyama; T C Saido; H Kume; K Shinozaki; S Tokuhiro; A Capell; J Walter; J Grünberg; C Haass; T Iwatsubo; K Obata
Journal:  Proc Natl Acad Sci U S A       Date:  1997-03-04       Impact factor: 11.205

9.  Chromosome 14 familial Alzheimer's disease: the clinical and neuropathological characteristics of a family with a leucine-->serine (L250S) substitution at codon 250 of the presenilin 1 gene.

Authors:  R J Harvey; D Ellison; J Hardy; M Hutton; P K Roques; J Collinge; N C Fox; M N Rossor
Journal:  J Neurol Neurosurg Psychiatry       Date:  1998-01       Impact factor: 10.154

10.  Expression and analysis of presenilin 1 in a human neuronal system: localization in cell bodies and dendrites.

Authors:  D G Cook; J C Sung; T E Golde; K M Felsenstein; B S Wojczyk; R E Tanzi; J Q Trojanowski; V M Lee; R W Doms
Journal:  Proc Natl Acad Sci U S A       Date:  1996-08-20       Impact factor: 11.205
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