Literature DB >> 10874324

A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease.

G Raux1, R Gantier, C Martin, Y Pothin, A Brice, T Frebourg, D Campion.   

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Year:  2000        PMID： 10874324     DOI： 10.1002/1098-1004(200007)16:1<95::AID-HUMU28>3.0.CO;2-H

Source DB:  PubMed          Journal:  Hum Mutat        ISSN： 1059-7794            Impact factor:   4.878


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  4 in total

Review 1.  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

2.  Pharmacological and genetic reversal of age-dependent cognitive deficits attributable to decreased presenilin function.

Authors:  Sean M J McBride; Catherine H Choi; Brian P Schoenfeld; Aaron J Bell; David A Liebelt; David Ferreiro; Richard J Choi; Paul Hinchey; Maria Kollaros; Allison M Terlizzi; Neal J Ferrick; Eric Koenigsberg; Rebecca L Rudominer; Ai Sumida; Stephanie Chiorean; Kathleen K Siwicki; Hanh T Nguyen; Mark E Fortini; Thomas V McDonald; Thomas A Jongens
Journal:  J Neurosci       Date:  2010-07-14       Impact factor: 6.167

3.  Clinical and molecular studies reveal a PSEN1 mutation (L153V) in a Peruvian family with early-onset Alzheimer's disease.

Authors:  Mario R Cornejo-Olivas; Chang-En Yu; Pilar Mazzetti; Ignacio F Mata; Maria Meza; Saul Lindo-Samanamud; James B Leverenz; Thomas D Bird
Journal:  Neurosci Lett       Date:  2014-02-02       Impact factor: 3.046

Review 4.  Clinical phenotypic heterogeneity of Alzheimer's disease associated with mutations of the presenilin-1 gene.

Authors:  A J Larner; M Doran
Journal:  J Neurol       Date:  2005-11-04       Impact factor: 6.682
  4 in total

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