P1-041: A case report of Alzheimer disease with presenilin-1 mutation (Met233Leu) showing a new phenotype

2009 ◽  
Vol 5 (4S_Part_6) ◽  
pp. P183-P183
Author(s):  
Masahiko Takaya ◽  
Hiroaki Kazui ◽  
Koji Ikezawa ◽  
Ryu Kurimoto ◽  
Kohichi Yamamoto ◽  
...  
Keyword(s):  
Case Report ◽  
Alzheimer Disease ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

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 causes Alzheimer disease without affecting Notch signaling

2018 ◽  
Vol 25 (3) ◽  
pp. 603-613 ◽  
Author(s):  
Shuting Zhang ◽  
Fang Cai ◽  
Yili Wu ◽  
Tahereh Bozorgmehr ◽  
Zhe Wang ◽  
...  
Keyword(s):  
Alzheimer Disease ◽  
Notch Signaling ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

Multimodal Imaging in a Patient With Alzheimer Disease and Parkinsonism Because of a Presenilin-1 Mutation

2021 ◽  
Vol Publish Ahead of Print ◽  
Author(s):  
Jia-Ying Lu ◽  
Yi-Min Sun ◽  
Tzu-Chen Yen ◽  
Chuan-Tao Zuo ◽  
Jian Wang
Keyword(s):  
Alzheimer Disease ◽  
Multimodal Imaging ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation

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
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