Literature DB >> 8684135

Incomplete penetrance of familial Alzheimer's disease in a pedigree with a novel presenilin-1 gene mutation.

M N Rossor, N C Fox, J Beck, T C Campbell, J Collinge.   

Abstract

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Year:  1996        PMID： 8684135     DOI： 10.1016/s0140-6736(96)90715-1

Source DB:  PubMed          Journal:  Lancet        ISSN： 0140-6736            Impact factor:   79.321


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  18 in total

Review 1.  Genetics, transcriptomics, and proteomics of Alzheimer's disease.

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2.  Cortical event-related potentials in preclinical familial Alzheimer disease.

Authors:  E J Golob; J M Ringman; R Irimajiri; S Bright; B Schaffer; L D Medina; A Starr
Journal:  Neurology       Date:  2009-11-17       Impact factor: 9.910

3.  Clinical rationale of genetic testing in dementia.

Authors:  G B Frisoni; M Trabucchi
Journal:  J Neurol Neurosurg Psychiatry       Date:  1997-03       Impact factor: 10.154

4.  Cruchaga & Goate reply.

Authors:  Carlos Cruchaga; Alison M Goate
Journal:  Nature       Date:  2015-04-02       Impact factor: 49.962

5.  Position paper of the Italian Society for the study of Dementias (SINDEM) on the proposal of a new lexicon on Alzheimer disease.

Authors:  Massimo Musicco; Alessandro Padovani; Sandro Sorbi; Elio Scarpini; Paolo Caffarra; Stefano Cappa; Francesca Clerici; Massimo Tabaton; Carlo Caltagirone; Vincenzo Bonavita; Amalia C Bruni; Giuseppe Bruno; Antonio Federico; Carlo Ferrarese; Camillo Marra; Benedetta Nacmias; Lucilla Parnetti; Carla Pettenati; Giuseppe Sorrentino; Fabrizio Tagliavini; Claudio Mariani
Journal:  Neurol Sci       Date:  2011-11-05       Impact factor: 3.307

6.  Early-onset autosomal dominant Alzheimer disease: prevalence, genetic heterogeneity, and mutation spectrum.

Authors:  D Campion; C Dumanchin; D Hannequin; B Dubois; S Belliard; M Puel; C Thomas-Anterion; A Michon; C Martin; F Charbonnier; G Raux; A Camuzat; C Penet; V Mesnage; M Martinez; F Clerget-Darpoux; A Brice; T Frebourg
Journal:  Am J Hum Genet       Date:  1999-09       Impact factor: 11.025

7.  Aging Shapes the Population-Mean and -Dispersion of Gene Expression in Human Brains.

Authors:  Candice L Brinkmeyer-Langford; Jinting Guan; Guoli Ji; James J Cai
Journal:  Front Aging Neurosci       Date:  2016-08-03       Impact factor: 5.750

8.  A presenilin-1 truncating mutation is present in two cases with autopsy-confirmed early-onset Alzheimer disease.

Authors:  C Tysoe; J Whittaker; J Xuereb; N J Cairns; M Cruts; C Van Broeckhoven; G Wilcock; D C Rubinsztein
Journal:  Am J Hum Genet       Date:  1998-01       Impact factor: 11.025

Review 9.  Commentary on "a roadmap for the prevention of dementia II: Leon Thal Symposium 2008." Prevention trials in persons at risk for dominantly inherited Alzheimer's disease: opportunities and challenges.

Authors:  John M Ringman; Joshua Grill; Yaneth Rodriguez-Agudelo; Mireya Chavez; Chengjie Xiong
Journal:  Alzheimers Dement       Date:  2009-03       Impact factor: 21.566

10.  Early structural changes in individuals at risk of familial Alzheimer's disease: a volumetry and magnetization transfer MR imaging study.

Authors:  A Ginestroni; M Battaglini; R Della Nave; M Moretti; C Tessa; M Giannelli; P Caffarra; B Nacmias; V Bessi; S Sorbi; L Bracco; N De Stefano; M Mascalchi
Journal:  J Neurol       Date:  2009-03-01       Impact factor: 4.849
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