Literature DB >> 19667325

Presenilin1 G217R mutation linked to Alzheimer disease with cotton wool plaques.

J B Norton1, N J Cairns, S Chakraverty, J Wang, D Levitch, J E Galvin, A Goate.   

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Year:  2009        PMID： 19667325      PMCID： PMC2727146          DOI： 10.1212/WNL.0b013e3181b163ba

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


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  7 in total

1.  Presenilin-1 mutation L271V results in altered exon 8 splicing and Alzheimer's disease with non-cored plaques and no neuritic dystrophy.

Authors:  John B J Kwok; Glenda M Halliday; William S Brooks; Georgia Dolios; Hanna Laudon; Ohoshi Murayama; Marianne Hallupp; Renee F Badenhop; James Vickers; Rong Wang; Jan Naslund; Akihiko Takashima; Samuel E Gandy; Peter R Schofield
Journal:  J Biol Chem       Date:  2002-12-19       Impact factor: 5.157

2.  Novel presenilin 1 variant (P117A) causing Alzheimer's disease in the fourth decade of life.

Authors:  John S K Kauwe; Jun Wang; Sumi Chakraverty; Alison M Goate; Andres F Henao-Martinez
Journal:  Neurosci Lett       Date:  2008-04-15       Impact factor: 3.046

3.  C-terminal PAL motif of presenilin and presenilin homologues required for normal active site conformation.

Authors:  Jun Wang; Dirk Beher; Andrew C Nyborg; Mark S Shearman; Todd E Golde; Alison Goate
Journal:  J Neurochem       Date:  2005-11-23       Impact factor: 5.372

4.  Cases of Alzheimer's disease due to deletion of exon 9 of the presenilin-1 gene show an unusual but characteristic beta-amyloid pathology known as 'cotton wool' plaques.

Authors:  D M Mann; A Takeuchi; S Sato; N J Cairns; P L Lantos; M N Rossor; M Haltia; H Kalimo; T Iwatsubo
Journal:  Neuropathol Appl Neurobiol       Date:  2001-06       Impact factor: 8.090

Review 5.  Consensus recommendations for the postmortem diagnosis of Alzheimer's disease. The National Institute on Aging, and Reagan Institute Working Group on Diagnostic Criteria for the Neuropathological Assessment of Alzheimer's Disease.

Authors: 
Journal:  Neurobiol Aging       Date:  1997 Jul-Aug       Impact factor: 4.673

6.  A novel mutation (G217D) in the Presenilin 1 gene ( PSEN1) in a Japanese family: presenile dementia and parkinsonism are associated with cotton wool plaques in the cortex and striatum.

Authors:  Masaki Takao; Bernardino Ghetti; Isao Hayakawa; Eiji Ikeda; Yasuo Fukuuchi; Leticia Miravalle; Pedro Piccardo; Jill R Murrell; Bradley S Glazier; Atsuo Koto
Journal:  Acta Neuropathol       Date:  2002-04-19       Impact factor: 17.088

7.  No association of spastic paraparesis genes in PSEN1 Alzheimer's disease with spastic paraparesis.

Authors:  Helena Karlstrom; John B J Kwok; Gillian C Gregory; Marianne Hallupp; William S Brooks; Peter R Schofield
Journal:  Neuroreport       Date:  2007-08-06       Impact factor: 1.837
  7 in total
  5 in total

1.  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

2.  Young adult-onset, very slowly progressive cognitive decline with spastic paraparesis in Alzheimer's disease with cotton wool plaques due to a novel presenilin1 G417S mutation.

Authors:  Tomoko Miki; Osamu Yokota; Takashi Haraguchi; Takeshi Ikeuchi; Bin Zhu; Shintaro Takenoshita; Seishi Terada; Norihito Yamada
Journal:  Acta Neuropathol Commun       Date:  2019-02-12       Impact factor: 7.801

3.  Variability in the type and layer distribution of cortical Aβ pathology in familial Alzheimer's disease.

Authors:  Nanet Willumsen; Teresa Poole; Jennifer M Nicholas; Nick C Fox; Natalie S Ryan; Tammaryn Lashley
Journal:  Brain Pathol       Date:  2021-07-28       Impact factor: 7.611

Review 4.  The genetics of Alzheimer's disease.

Authors:  Eva Bagyinszky; Young Chul Youn; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2014-04-01       Impact factor: 4.458

5.  Human fibroblast and stem cell resource from the Dominantly Inherited Alzheimer Network.

Authors:  Celeste M Karch; Damián Hernández; Jen-Chyong Wang; Jacob Marsh; Alex W Hewitt; Simon Hsu; Joanne Norton; Denise Levitch; Tamara Donahue; Wendy Sigurdson; Bernardino Ghetti; Martin Farlow; Jasmeer Chhatwal; Sarah Berman; Carlos Cruchaga; John C Morris; Randall J Bateman; Alice Pébay; Alison M Goate
Journal:  Alzheimers Res Ther       Date:  2018-07-25       Impact factor: 6.982
  5 in total

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