Literature DB >> 9915968

The Glu318Gly substitution in presenilin 1 is not causally related to Alzheimer disease.

B Dermaut, M Cruts, A J Slooter, S Van Gestel, C De Jonghe, H Vanderstichele, E Vanmechelen, M M Breteler, A Hofman, C M van Duijn, C Van Broeckhoven.   

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Year:  1999        PMID： 9915968      PMCID： PMC1377727          DOI： 10.1086/302200

Source DB:  PubMed          Journal:  Am J Hum Genet        ISSN： 0002-9297            Impact factor:   11.025


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  10 in total

1.  Genetic testing should not be advocated as a diagnostic tool in familial forms of dementia.

Authors:  E A Croes; B Dermaut; T J van Der Cammen; C van Broeckhoven; C M van Duijn
Journal:  Am J Hum Genet       Date:  2000-10       Impact factor: 11.025

2.  High prevalence of pathogenic mutations in patients with early-onset dementia detected by sequence analyses of four different genes.

Authors:  U Finckh; T Müller-Thomsen; U Mann; C Eggers; J Marksteiner; W Meins; G Binetti; A Alberici; C Hock; R M Nitsch; A Gal
Journal:  Am J Hum Genet       Date:  2000-01       Impact factor: 11.025

3.  The PSEN1, p.E318G variant increases the risk of Alzheimer's disease in APOE-ε4 carriers.

Authors:  Bruno A Benitez; Celeste M Karch; Yefei Cai; Sheng Chih Jin; Breanna Cooper; David Carrell; Sarah Bertelsen; Lori Chibnik; Julie A Schneider; David A Bennett; Anne M Fagan; David Holtzman; John C Morris; Alison M Goate; Carlos Cruchaga
Journal:  PLoS Genet       Date:  2013-08-22       Impact factor: 5.917

4.  Late onset familial Alzheimer's disease: novel presenilin 2 mutation and PS1 E318G polymorphism.

Authors:  Livia Bernardi; Carmine Tomaino; Maria Anfossi; Maura Gallo; Silvana Geracitano; Gianfranco Puccio; Rosanna Colao; Francesca Frangipane; Maria Mirabelli; Nicoletta Smirne; Raffaele Giovanni Maletta; Amalia C Bruni
Journal:  J Neurol       Date:  2008-03-25       Impact factor: 4.849

5.  Linkage and association studies identify a novel locus for Alzheimer disease at 7q36 in a Dutch population-based sample.

Authors:  Rosa Rademakers; Marc Cruts; Kristel Sleegers; Bart Dermaut; Jessie Theuns; Yurii Aulchenko; Stefan Weckx; Tim De Pooter; Marleen Van den Broeck; Ellen Corsmit; Peter De Rijk; Jurgen Del-Favero; John van Swieten; Cornelia M van Duijn; Christine Van Broeckhoven
Journal:  Am J Hum Genet       Date:  2005-08-30       Impact factor: 11.025

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.  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

8.  Atypical Huntington's disease with the clinical presentation of behavioural variant of frontotemporal dementia.

Authors:  Stanislav Sutovsky; Tomas Smolek; Irina Alafuzoff; Andrej Blaho; Vojtech Parrak; Peter Turcani; Michal Palkovic; Robert Petrovic; Michal Novak; Norbert Zilka
Journal:  J Neural Transm (Vienna)       Date:  2016-06-10       Impact factor: 3.575

9.  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

10.  Pooled-DNA sequencing identifies novel causative variants in PSEN1, GRN and MAPT in a clinical early-onset and familial Alzheimer's disease Ibero-American cohort.

Authors:  Sheng Chih Jin; Pau Pastor; Breanna Cooper; Sebastian Cervantes; Bruno A Benitez; Cristina Razquin; Alison Goate; Carlos Cruchaga
Journal:  Alzheimers Res Ther       Date:  2012-08-20       Impact factor: 6.982
  10 in total

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