P1-256: Cerebellar amyloid in a case of early-onset dementia with a presenilin-1 mutation: Correlation to clinical phenotype

2008 ◽  
Vol 4 ◽  
pp. T290-T291 ◽  
Author(s):  
Daniel I. Kaufer ◽  
Hyde Yuen ◽  
Steven T. DeKosky ◽  
William E. Klunk
Keyword(s):  
Early Onset ◽  
Clinical Phenotype ◽  
Presenilin 1 ◽  
Early Onset Dementia ◽  
Presenilin 1 Mutation

Molecular evidence of presenilin 1 mutation in familial early onset dementia

2002 ◽  
Vol 114 (3) ◽  
pp. 292-298 ◽  
Author(s):  
Miho Matsubara-Tsutsui ◽  
Minoru Yasuda ◽  
Hidehisa Yamagata ◽  
Takuo Nomura ◽  
Keiko Taguchi ◽  
...  
Keyword(s):  
Early Onset ◽  
Presenilin 1 ◽  
Molecular Evidence ◽  
Early Onset Dementia ◽  
Presenilin 1 Mutation

A novel presenilin 1 mutation (Ser169del) in a Chinese family with early-onset Alzheimer's disease

2010 ◽  
Vol 468 (1) ◽  
pp. 34-37 ◽  
Author(s):  
Jifeng Guo ◽  
Jiaohua Wei ◽  
Shusheng Liao ◽  
Lei Wang ◽  
Hong Jiang ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Chinese Family ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

scholarly journals A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease

Neurogenetics ◽  
2002 ◽  
Vol 4 (2) ◽  
pp. 97-104 ◽  
Author(s):  
A. Bertoli Avella ◽  
B. Marcheco Teruel ◽  
J. Llibre Rodriguez ◽  
N. Gomez Viera ◽  
I. Borrajero Martinez ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

A presenilin 1 mutation (Arg278Ser) associated with early onset Alzheimer’s disease and spastic paraparesis

2007 ◽  
Vol 260 (1-2) ◽  
pp. 78-82 ◽  
Author(s):  
Ashok Raman ◽  
Xia Lin ◽  
Mohnish Suri ◽  
Monica Hewitt ◽  
Cris S. Constantinescu ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Spastic Paraparesis ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

Novel presenilin 1 mutation (p.I83T) in Tunisian family with early-onset Alzheimer's disease

2015 ◽  
Vol 36 (10) ◽  
pp. 2904.e9-2904.e11 ◽  
Author(s):  
Afef Achouri-Rassas ◽  
Nadia Ben Ali ◽  
Saloua Fray ◽  
Sondes Hadj Fredj ◽  
Meriem Kechaou ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease ◽  
Tunisian Family

scholarly journals Autopsy-Confirmed Familial Early-Onset Alzheimer Disease Caused by the L153V Presenilin 1 Mutation

2001 ◽  
Vol 58 (6) ◽  
pp. 953 ◽  
Author(s):  
John C. Janssen ◽  
Peter L. Lantos ◽  
Nicholas C. Fox ◽  
Richard J. Harvey ◽  
Jonathan Beck ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

scholarly journals A Novel Presenilin-1 Mutation (Leu85Pro) in Early-Onset Alzheimer Disease With Spastic Paraparesis

2004 ◽  
Vol 61 (11) ◽  
pp. 1773 ◽  
Author(s):  
Suzuka Ataka ◽  
Takami Tomiyama ◽  
Hiroshi Takuma ◽  
Takenari Yamashita ◽  
Hiroyuki Shimada ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Spastic Paraparesis ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

A presenilin 1 mutation (L420R) in a family with early onset Alzheimer disease, seizures and cotton wool plaques, but not spastic paraparesis

2007 ◽  
Vol 27 (3) ◽  
pp. 228-232 ◽  
Author(s):  
Antony E. Shrimpton ◽  
Robert L. Schelper ◽  
Reinhold P. Linke ◽  
John Hardy ◽  
Richard Crook ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Early Onset ◽  
Spastic Paraparesis ◽  
Presenilin 1 ◽  
Cotton Wool ◽  
Presenilin 1 Mutation

A novel presenilin 1 mutation (F388L) identified in a Chinese family with early-onset Alzheimer's disease

2017 ◽  
Vol 50 ◽  
pp. 168.e1-168.e4 ◽  
Author(s):  
Yihong Zhan ◽  
Honghua Zheng ◽  
Chen Wang ◽  
Zhouyi Rong ◽  
Naian Xiao ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Chinese Family ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease
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