Literature DB >> 23212405

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

Sandro Marini1, Giulia Lucidi, Andrea Tedde, Valentina Bessi, Benedetta Nacmias.   

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Year:  2012        PMID: 23212405     DOI: 10.1007/s10072-012-1260-1

Source DB:  PubMed          Journal:  Neurol Sci        ISSN: 1590-1874            Impact factor:   3.307


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  6 in total

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

Authors:  Peiyee Lee; Luis Medina; John M Ringman
Journal:  Neurology       Date:  2006-06-27       Impact factor: 9.910

2.  Screening for PS1 mutations in a referral-based series of AD cases: 21 novel mutations.

Authors:  E A Rogaeva; K C Fafel; Y Q Song; H Medeiros; C Sato; Y Liang; E Richard; E I Rogaev; P Frommelt; A D Sadovnick; W Meschino; K Rockwood; M A Boss; R Mayeux; P St George-Hyslop
Journal:  Neurology       Date:  2001-08-28       Impact factor: 9.910

Review 3.  The genetics of Alzheimer disease: back to the future.

Authors:  Lars Bertram; Christina M Lill; Rudolph E Tanzi
Journal:  Neuron       Date:  2010-10-21       Impact factor: 17.173

4.  Clinical diagnosis of Alzheimer's disease: report of the NINCDS-ADRDA Work Group under the auspices of Department of Health and Human Services Task Force on Alzheimer's Disease.

Authors:  G McKhann; D Drachman; M Folstein; R Katzman; D Price; E M Stadlan
Journal:  Neurology       Date:  1984-07       Impact factor: 9.910

Review 5.  Genotype-phenotype relationships of presenilin-1 mutations in Alzheimer's disease: an update.

Authors:  Andrew J Larner; Mark Doran
Journal:  J Alzheimers Dis       Date:  2009       Impact factor: 4.472

Review 6.  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

  6 in total

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