The Presenilin-1 Mutation Leu173Trp Is Associated with Very Early-Onset Alzheimer's Disease and Progressive Myoclonic Epilepsy (P05.068)

Neurology ◽  
2012 ◽  
Vol 78 (Meeting Abstracts 1) ◽  
pp. P05.068-P05.068
Author(s):  
M. Geddes ◽  
M. Tischkowitz ◽  
E. Andermann ◽  
M.-C. Guiot ◽  
H. Chertkow
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Myoclonic Epilepsy ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease ◽  
Progressive Myoclonic Epilepsy

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

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

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

Dopa Responsive Parkinsonism in an Early Onset Alzheimer’s Disease Patient with a Presenilin 1 Mutation (A434T)

2019 ◽  
Vol 71 (1) ◽  
pp. 7-13 ◽  
Author(s):  
Hyunjin Jo ◽  
Minkyeong Kim ◽  
Seongbeom Park ◽  
Jong Eun Park ◽  
Soo Hyun Cho ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Disease Patient ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

Novel presenilin 1 mutation (p.Thr-Pro116-117Ser-Thr) in a Spanish family with early-onset Alzheimer's disease

2019 ◽  
Vol 84 ◽  
pp. 238.e19-238.e24
Author(s):  
Jose Antonio Blanco ◽  
Adrian Alonso ◽  
Jorge Blanco ◽  
Esther Rojo ◽  
Juan José Tellería ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
Spanish Family ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

Clinical characterization of a presenilin 1 mutation (F177S) in a family with very early-onset Alzheimer's disease in the third decade of life

2013 ◽  
Vol 10 (2) ◽  
pp. e27-e39 ◽  
Author(s):  
Lucrezia Hausner ◽  
Jakob A. Tschäpe ◽  
Hans Peter Schmitt ◽  
Frank Hentschel ◽  
Tobias Hartmann ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Presenilin 1 ◽  
The Third ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease

A novel presenilin 1 mutation (Y154N) in a patient with early onset Alzheimer's disease with spastic paraparesis

2004 ◽  
Vol 368 (3) ◽  
pp. 319-322 ◽  
Author(s):  
Sayoko Hattori ◽  
Kenji Sakuma ◽  
Yosuke Wakutani ◽  
Kenji Wada ◽  
Masaru Shimoda ◽  
...  
Keyword(s):  
Alzheimer’S Disease ◽  
Alzheimer's Disease ◽  
Early Onset ◽  
Spastic Paraparesis ◽  
Presenilin 1 ◽  
Presenilin 1 Mutation ◽  
Early Onset Alzheimer’S Disease
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