Familial Alzheimer&#39;s disease presenilin 1 mutation M146V increases gamma secretase cutting of p75NTR in vitro

Presenilin 1 Mutation ◽

Familial Alzheimer’s Disease due to Presenilin 1 Mutation at the Age of 33: a Case Report

SN Comprehensive Clinical Medicine ◽

10.1007/s42399-021-00982-5 ◽

2021 ◽

Author(s):

Rita Raimundo ◽

Rafael Jesus ◽

Andreia Veiga

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Case Report ◽

Presenilin 1 ◽

Presenilin 1 Mutation ◽

IC-P-048: Using high density event-related potentials to study recognition memory in presymptomatic individuals with familial Alzheimer's disease due to E280A presenilin-1 mutation

Alzheimer s & Dementia ◽

10.1016/j.jalz.2009.05.068 ◽

2009 ◽

Vol 5 (4S_Part_1) ◽

pp. P23-P24

Author(s):

Yakeel T. Quiroz ◽

Chantal E. Stern ◽

Francisco Lopera ◽

Joshua D. McKeever ◽

Brandon A. Ally ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Recognition Memory ◽

Event Related Potentials ◽

High Density ◽

Presenilin 1 ◽

Related Potentials ◽

Presenilin 1 Mutation ◽

Presenilin-1 mutation E318G and familial Alzheimer's disease in the Italian population

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2006.07.003 ◽

2007 ◽

Vol 28 (11) ◽

pp. 1682-1688 ◽

Cited By ~ 16

Author(s):

Diego Albani ◽

Ignazio Roiter ◽

Vladimiro Artuso ◽

Sara Batelli ◽

Francesca Prato ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Italian Population ◽

Presenilin 1 Mutation ◽

A novel presenilin 1 mutation (L282F) in familial Alzheimer’s disease

Journal of Neurology ◽

10.1007/s00415-009-5154-y ◽

2009 ◽

Vol 256 (9) ◽

pp. 1575-1577 ◽

Cited By ~ 6

Author(s):

Tsuyoshi Hamaguchi ◽

Akiyoshi Morinaga ◽

Tamao Tsukie ◽

Ryozo Kuwano ◽

Masahito Yamada

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Presenilin 1 Mutation ◽

Cognitive Decline in Patients with Familial Alzheimer's Disease Associated with E280a Presenilin-1 Mutation: A Longitudinal Study

Journal of Clinical and Experimental Neuropsychology ◽

10.1076/1380-3395(200008)22:4;1-0;ft483 ◽

2000 ◽

Vol 22 (4) ◽

pp. 483-495 ◽

Cited By ~ 11

Author(s):

Mónica Rosselli ◽

Alfredo Ardila ◽

Sonia Moreno ◽

Virginia Standish ◽

Juan C. Arango-Lasprilla ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Longitudinal Study ◽

Cognitive Decline ◽

Presenilin 1 ◽

Presenilin 1 Mutation ◽

NACP/α-Synuclein, NAC, and β-amyloid pathology of familial Alzheimer's disease with the E184D presenilin-1 mutation: a clinicopathological study of two autopsy cases

Acta Neuropathologica ◽

10.1007/s00401-002-0596-7 ◽

2002 ◽

Vol 104 (6) ◽

pp. 637-648 ◽

Cited By ~ 20

Author(s):

Osamu Yokota ◽

Seishi Terada ◽

Hideki Ishizu ◽

Hiroshi Ujike ◽

Takeshi Ishihara ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Amyloid Pathology ◽

Clinicopathological Study ◽

Presenilin 1 Mutation ◽

Β Amyloid ◽

Neuropsychological Profile of a Large Kindred with Familial Alzheimer's Disease Caused by the E280A Single Presenilin-1 Mutation

Archives of Clinical Neuropsychology ◽

10.1093/arclin/15.6.515 ◽

2000 ◽

Vol 15 (6) ◽

pp. 515-528 ◽

Cited By ~ 66

Author(s):

A. Ardila ◽

F. Lopera ◽

M. Rosselli ◽

S. Moreno ◽

L. Madrigal ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Neuropsychological Profile ◽

Presenilin 1 Mutation ◽

Neuropsychological Profile of a Large Kindred with Familial Alzheimer's Disease Caused by the E280A Single Presenilin-1 Mutation

Archives of Clinical Neuropsychology ◽

10.1016/s0887-6177(99)00041-4 ◽

2000 ◽

Vol 15 (6) ◽

pp. 515-528 ◽

Cited By ~ 1

Author(s):

A Ardila

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Presenilin 1 ◽

Neuropsychological Profile ◽

Presenilin 1 Mutation ◽

O1-11-05: Pharmacological chaperones increase wild type presenilin 1 levels and promote the normalization of gamma-secretase function in presenilin 1 early-onset familial Alzheimer's disease models

Alzheimer s & Dementia ◽

10.1016/j.jalz.2012.05.270 ◽

2012 ◽

Vol 8 (4S_Part_3) ◽

pp. P105-P105

Author(s):

Anthony Stevens ◽

Hadis Williams ◽

Carolyn Collins ◽

Mohammed Mughal ◽

Anadina Garcia ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Presenilin 1 ◽

Disease Models ◽

Gamma Secretase ◽

Wild Type ◽

Pharmacological Chaperones ◽

Early-onset familial Alzheimer’s disease related to presenilin 1 mutation resembling autosomal dominant spinocerebellar ataxia

Journal of Neurology ◽

10.1007/s00415-013-6879-1 ◽

2013 ◽

Vol 260 (4) ◽

pp. 1177-1179 ◽

Cited By ~ 4

Author(s):

Pedro Braga-Neto ◽

José Luiz Pedroso ◽

Helena Alessi ◽

Paulo Victor Sgobbi de Souza ◽

Paulo Henrique Ferreira Bertolucci ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Spinocerebellar Ataxia ◽

Early Onset ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Autosomal Dominant Spinocerebellar Ataxia

Presenilin 1 Mutation ◽

Familial Alzheimer's Disease ◽