Literature DB >> 21409510

Presenilin-2 gene mutation presenting as Lewy body dementia?

Loredana Raciti, Alessandra Nicoletti, Francesco Le Pira, Virginia Andreoli, Donatella Contrafatto, Salvatore Lanzafame, Tiziana Maci, Antonio Gambardella, Aldo Quattrone, Mario Zappia.   

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Year:  2011        PMID： 21409510     DOI： 10.1007/s10072-011-0497-4

Source DB:  PubMed          Journal:  Neurol Sci        ISSN： 1590-1874            Impact factor:   3.307


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  15 in total

1.  Rey-Osterrieth complex figure: normative values in an Italian population sample.

Authors:  P Caffarra; G Vezzadini; F Dieci; F Zonato; A Venneri
Journal:  Neurol Sci       Date:  2002-03       Impact factor: 3.307

2.  Presenilin 2 familial Alzheimer's disease mutations result in partial loss of function and dramatic changes in Abeta 42/40 ratios.

Authors:  Emily S Walker; Maribel Martinez; Anne L Brunkan; Alison Goate
Journal:  J Neurochem       Date:  2005-01       Impact factor: 5.372

3.  A modified card sorting test sensitive to frontal lobe defects.

Authors:  H E Nelson
Journal:  Cortex       Date:  1976-12       Impact factor: 4.027

4.  The FAB: a Frontal Assessment Battery at bedside.

Authors:  B Dubois; A Slachevsky; I Litvan; B Pillon
Journal:  Neurology       Date:  2000-12-12       Impact factor: 9.910

5.  A double dissociation between accuracy and time of execution on attentional tasks in Alzheimer's disease and multi-infarct dementia.

Authors:  G Gainotti; C Marra; G Villa
Journal:  Brain       Date:  2001-04       Impact factor: 13.501

6.  Novel amyloid precursor protein gene missense mutation (D678N) in probable familial Alzheimer's disease.

Authors:  Y Wakutani; K Watanabe; Y Adachi; K Wada-Isoe; K Urakami; H Ninomiya; T C Saido; T Hashimoto; T Iwatsubo; K Nakashima
Journal:  J Neurol Neurosurg Psychiatry       Date:  2004-07       Impact factor: 10.154

7.  A novel PSEN2 mutation associated with a peculiar phenotype.

Authors:  P Piscopo; G Marcon; M R Piras; A Crestini; L Malvezzi Campeggi; E Deiana; R Cherchi; F Tanda; A Deplano; N Vanacore; F Tagliavini; M Pocchiari; G Giaccone; A Confaloni
Journal:  Neurology       Date:  2008-04-22       Impact factor: 9.910

8.  Functional characterization of novel presenilin-2 variants identified in human breast cancers.

Authors:  M D To; N Gokgoz; T G Doyle; D B Donoviel; J A Knight; P S Hyslop; A Bernstein; I L Andrulis
Journal:  Oncogene       Date:  2006-02-13       Impact factor: 9.867

9.  Facilitation of lin-12-mediated signalling by sel-12, a Caenorhabditis elegans S182 Alzheimer's disease gene.

Authors:  D Levitan; I Greenwald
Journal:  Nature       Date:  1995-09-28       Impact factor: 49.962

10.  Interaction between Abeta peptide and alpha synuclein: molecular mechanisms in overlapping pathology of Alzheimer's and Parkinson's in dementia with Lewy body disease.

Authors:  Pravat K Mandal; Jay W Pettegrew; Eliezer Masliah; Ronald L Hamilton; Ratna Mandal
Journal:  Neurochem Res       Date:  2006-09-01       Impact factor: 4.414
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  3 in total

Review 1.  Mutations in presenilin 2 and its implications in Alzheimer's disease and other dementia-associated disorders.

Authors:  Yan Cai; Seong Soo A An; SangYun Kim
Journal:  Clin Interv Aging       Date:  2015-07-14       Impact factor: 4.458

2.  A patient with posterior cortical atrophy possesses a novel mutation in the presenilin 1 gene.

Authors:  Emilia J Sitek; Ewa Narożańska; Beata Pepłońska; Sławomir Filipek; Anna Barczak; Maria Styczyńska; Krzysztof Mlynarczyk; Bogna Brockhuis; Erik Portelius; Dorota Religa; Maria Barcikowska; Jarosław Sławek; Cezary Żekanowski
Journal:  PLoS One       Date:  2013-04-12       Impact factor: 3.240

3.  Genetic Association between Presenilin 2 Polymorphisms and Alzheimer's Disease and Dementia of Lewy Body Type in a Japanese Population.

Authors:  Ayako Suzuki; Nobuto Shibata; Koji Kasanuki; Tomoyuki Nagata; Shunichiro Shinagawa; Nobuyuki Kobayashi; Tohru Ohnuma; Yoshihide Takeshita; Eri Kawai; Toshiki Takayama; Kenya Nishioka; Yumiko Motoi; Nobutaka Hattori; Kazuhiko Nakayama; Hisashi Yamada; Heii Arai
Journal:  Dement Geriatr Cogn Dis Extra       Date:  2016-03-16
  3 in total

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