Literature DB >> 11094128

A presenilin-1 mutation (Leu392Pro) in a familial AD kindred with psychiatric symptoms at onset.

A Tedde1, P Forleo, B Nacmias, C Piccini, L Bracco, S Piacentini, S Sorbi.   

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Year:  2000        PMID： 11094128     DOI： 10.1212/wnl.55.10.1590

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


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  7 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.  Depression and psychiatric symptoms preceding onset of dementia in a family with early-onset Alzheimer disease with a novel PSEN1 mutation.

Authors:  Kensaku Kasuga; Tsukasa Ohno; Tomohiko Ishihara; Akinori Miyashita; Ryozo Kuwano; Osamu Onodera; Masatoyo Nishizawa; Takeshi Ikeuchi
Journal:  J Neurol       Date:  2009-03-12       Impact factor: 4.849

3.  Phenotypic Similarities Between Late-Onset Autosomal Dominant and Sporadic Alzheimer Disease: A Single-Family Case-Control Study.

Authors:  Gregory S Day; Erik S Musiek; Catherine M Roe; Joanne Norton; Alison M Goate; Carlos Cruchaga; Nigel J Cairns; John C Morris
Journal:  JAMA Neurol       Date:  2016-09-01       Impact factor: 18.302

Review 4.  The paradox of syndromic diversity in Alzheimer disease.

Authors:  Jason D Warren; Phillip D Fletcher; Hannah L Golden
Journal:  Nat Rev Neurol       Date:  2012-07-17       Impact factor: 42.937

5.  Corticobasal Syndrome in a Family with Early-Onset Alzheimer's Disease Linked to a Presenilin-1 Gene Mutation.

Authors:  Eloisa Navarro; Clara De Andrés; Carmen Guerrero; Santiago Giménez-Roldán
Journal:  Mov Disord Clin Pract       Date:  2015-07-25

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

7.  Genetic counseling and testing for Alzheimer disease: joint practice guidelines of the American College of Medical Genetics and the National Society of Genetic Counselors.

Authors:  Jill S Goldman; Susan E Hahn; Jennifer Williamson Catania; Susan LaRusse-Eckert; Melissa Barber Butson; Malia Rumbaugh; Michelle N Strecker; J Scott Roberts; Wylie Burke; Richard Mayeux; Thomas Bird
Journal:  Genet Med       Date:  2011-06       Impact factor: 8.822
  7 in total

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