Literature DB >> 16801675

The Thr354Ile substitution in PSEN1:: disease-causing mutation or polymorphism?

Peiyee Lee1, Luis Medina, John M Ringman.   

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Year:  2006        PMID： 16801675     DOI： 10.1212/01.wnl.0000219762.28324.a6

Source DB:  PubMed          Journal:  Neurology        ISSN： 0028-3878            Impact factor:   9.910


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  4 in total

1.  Biochemical, neuropathological, and neuroimaging characteristics of early-onset Alzheimer's disease due to a novel PSEN1 mutation.

Authors:  John M Ringman; Karen H Gylys; Luis D Medina; Michelle Fox; Vladimir Kepe; Deborah L Flores; Liana G Apostolova; Jorge R Barrio; Gary Small; Daniel H Silverman; Erin Siu; Stephen Cederbaum; Silva Hecimovic; Martina Malnar; Suma Chakraverty; Alison M Goate; Thomas D Bird; James B Leverenz
Journal:  Neurosci Lett       Date:  2010-11-19       Impact factor: 3.046

2.  A case of atypical early-onset Alzheimer's disease carrying the missense mutation Thr354Ile in exon 10 of the PSEN1 gene.

Authors:  Sandro Marini; Giulia Lucidi; Andrea Tedde; Valentina Bessi; Benedetta Nacmias
Journal:  Neurol Sci       Date:  2012-12-02       Impact factor: 3.307

3.  A novel PSEN1 mutation (I238M) associated with early-onset Alzheimer's disease in an African-American woman.

Authors:  Simon Kang Seng Ting; Tammie Benzinger; Vladimir Kepe; Anne Fagan; Giovanni Coppola; Verna Porter; Silva Hecimovic; Suma Chakraverty; Ana Isabel Alvarez-Retuerto; Alison Goate; John M Ringman
Journal:  J Alzheimers Dis       Date:  2014       Impact factor: 4.472

4.  Familial Alzheimer disease-linked mutations specifically disrupt Ca2+ leak function of presenilin 1.

Authors:  Omar Nelson; Huiping Tu; Tianhua Lei; Mostafa Bentahir; Bart de Strooper; Ilya Bezprozvanny
Journal:  J Clin Invest       Date:  2007-04-12       Impact factor: 14.808
  4 in total

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