Literature DB >> 10502791

Alzheimer disease PS-1 exon 9 deletion defined.

G Prihar, A Verkkoniem, J Perez-Tur, R Crook, S Lincoln, H Houlden, M Somer, A Paetau, H Kalimo, A Grover, L Myllykangas, M Hutton, J Hardy, M Haltia.   

Abstract

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Year:  1999        PMID： 10502791     DOI： 10.1038/13383

Source DB:  PubMed          Journal:  Nat Med        ISSN： 1078-8956            Impact factor:   53.440


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  11 in total

1.  Amyloid angiopathy and variability in amyloid beta deposition is determined by mutation position in presenilin-1-linked Alzheimer's disease.

Authors:  D M Mann; S M Pickering-Brown; A Takeuchi; T Iwatsubo
Journal:  Am J Pathol       Date:  2001-06       Impact factor: 4.307

2.  Functional and topological analysis of Pen-2, the fourth subunit of the gamma-secretase complex.

Authors:  Leen Bammens; Lucía Chávez-Gutiérrez; Alexandra Tolia; An Zwijsen; Bart De Strooper
Journal:  J Biol Chem       Date:  2011-02-04       Impact factor: 5.157

3.  Amyloid precursor protein processing and retinal pathology in mouse models of Alzheimer's disease.

Authors:  R Michael Dutescu; Qiao-Xin Li; Jonathan Crowston; Colin L Masters; Paul N Baird; Janetta G Culvenor
Journal:  Graefes Arch Clin Exp Ophthalmol       Date:  2009-03-07       Impact factor: 3.117

4.  17q21.31 duplication causes prominent tau-related dementia with increased MAPT expression.

Authors:  K Le Guennec; O Quenez; G Nicolas; D Wallon; S Rousseau; A-C Richard; J Alexander; P Paschou; C Charbonnier; C Bellenguez; B Grenier-Boley; D Lechner; M-T Bihoreau; R Olaso; A Boland; V Meyer; J-F Deleuze; P Amouyel; H M Munter; G Bourque; M Lathrop; T Frebourg; R Redon; L Letenneur; J-F Dartigues; O Martinaud; O Kalev; S Mehrabian; L Traykov; T Ströbel; I Le Ber; P Caroppo; S Epelbaum; T Jonveaux; F Pasquier; A Rollin-Sillaire; E Génin; L Guyant-Maréchal; G G Kovacs; J-C Lambert; D Hannequin; D Campion; A Rovelet-Lecrux
Journal:  Mol Psychiatry       Date:  2016-12-13       Impact factor: 15.992

5.  The role of variation at AβPP, PSEN1, PSEN2, and MAPT in late onset Alzheimer's disease.

Authors:  Amy Gerrish; Giancarlo Russo; Alexander Richards; Valentina Moskvina; Dobril Ivanov; Denise Harold; Rebecca Sims; Richard Abraham; Paul Hollingworth; Jade Chapman; Marian Hamshere; Jaspreet Singh Pahwa; Kimberley Dowzell; Amy Williams; Nicola Jones; Charlene Thomas; Alexandra Stretton; Angharad R Morgan; Simon Lovestone; John Powell; Petroula Proitsi; Michelle K Lupton; Carol Brayne; David C Rubinsztein; Michael Gill; Brian Lawlor; Aoibhinn Lynch; Kevin Morgan; Kristelle S Brown; Peter A Passmore; David Craig; Bernadette McGuinness; Stephen Todd; Janet A Johnston; Clive Holmes; David Mann; A David Smith; Seth Love; Patrick G Kehoe; John Hardy; Simon Mead; Nick Fox; Martin Rossor; John Collinge; Wolfgang Maier; Frank Jessen; Heike Kölsch; Reinhard Heun; Britta Schürmann; Hendrik van den Bussche; Isabella Heuser; Johannes Kornhuber; Jens Wiltfang; Martin Dichgans; Lutz Frölich; Harald Hampel; Michael Hüll; Dan Rujescu; Alison M Goate; John S K Kauwe; Carlos Cruchaga; Petra Nowotny; John C Morris; Kevin Mayo; Gill Livingston; Nicholas J Bass; Hugh Gurling; Andrew McQuillin; Rhian Gwilliam; Panagiotis Deloukas; Gail Davies; Sarah E Harris; John M Starr; Ian J Deary; Ammar Al-Chalabi; Christopher E Shaw; Magda Tsolaki; Andrew B Singleton; Rita Guerreiro; Thomas W Mühleisen; Markus M Nöthen; Susanne Moebus; Karl-Heinz Jöckel; Norman Klopp; H-Erich Wichmann; Minerva M Carrasquillo; V Shane Pankratz; Steven G Younkin; Lesley Jones; Peter A Holmans; Michael C O'Donovan; Michael J Owen; Julie Williams
Journal:  J Alzheimers Dis       Date:  2012       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

7.  Fragile X mental retardation protein expression in Alzheimer's disease.

Authors:  Abigail J Renoux; Nicholas M Carducci; Arya A Ahmady; Peter K Todd
Journal:  Front Genet       Date:  2014-10-21       Impact factor: 4.599

8.  Distinct sequence features underlie microdeletions and gross deletions in the human genome.

Authors:  Mengling Qi; Peter D Stenson; Edward V Ball; John A Tainer; Albino Bacolla; Hildegard Kehrer-Sawatzki; David N Cooper; Huiying Zhao
Journal:  Hum Mutat       Date:  2022-02-01       Impact factor: 4.700

Review 9.  Recent Advances in the Modeling of Alzheimer's Disease.

Authors:  Hiroki Sasaguri; Shoko Hashimoto; Naoto Watamura; Kaori Sato; Risa Takamura; Kenichi Nagata; Satoshi Tsubuki; Toshio Ohshima; Atsushi Yoshiki; Kenya Sato; Wakako Kumita; Erika Sasaki; Shinobu Kitazume; Per Nilsson; Bengt Winblad; Takashi Saito; Nobuhisa Iwata; Takaomi C Saido
Journal:  Front Neurosci       Date:  2022-03-31       Impact factor: 4.677

10.  Genetics of dementia in a Finnish cohort.

Authors:  Petra Pasanen; Liisa Myllykangas; Minna Pöyhönen; Anna Kiviharju; Maija Siitonen; John Hardy; Jose Bras; Anders Paetau; Pentti J Tienari; Rita Guerreiro; Auli Verkkoniemi-Ahola
Journal:  Eur J Hum Genet       Date:  2018-02-23       Impact factor: 4.246
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