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Homozygosity of the autosomal dominant Alzheimer disease presenilin 1 E280A mutation
Neurology
◽
10.1212/wnl.0000000000001130
◽
2014
◽
Vol 84
(2)
◽
pp. 206-208
◽
Cited By ~ 11
Author(s):
K. S. Kosik
◽
C. Munoz
◽
L. Lopez
◽
M. L. Arcila
◽
G. Garcia
◽
...
Keyword(s):
Alzheimer Disease
◽
Autosomal Dominant
◽
Presenilin 1
Download Full-text
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References
Sex Differences in Cognitive Abilities Among Children With the Autosomal Dominant Alzheimer Disease Presenilin 1 E280A Variant From a Colombian Cohort
JAMA Network Open
◽
10.1001/jamanetworkopen.2021.21697
◽
2021
◽
Vol 4
(8)
◽
pp. e2121697
Author(s):
Joshua T. Fox-Fuller
◽
Arabiye Artola
◽
Kewei Chen
◽
Margaret Pulsifer
◽
Dora Ramirez
◽
...
Keyword(s):
Sex Differences
◽
Alzheimer Disease
◽
Cognitive Abilities
◽
Autosomal Dominant
◽
Presenilin 1
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Associations Between Biomarkers and Age in the Presenilin 1 E280A Autosomal Dominant Alzheimer Disease Kindred
JAMA Neurology
◽
10.1001/jamaneurol.2014.3314
◽
2015
◽
Vol 72
(3)
◽
pp. 316
◽
Cited By ~ 85
Author(s):
Adam S. Fleisher
◽
Kewei Chen
◽
Yakeel T. Quiroz
◽
Laura J. Jakimovich
◽
Madelyn Gutierrez Gomez
◽
...
Keyword(s):
Alzheimer Disease
◽
Autosomal Dominant
◽
Presenilin 1
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Phenotypic Variability in Autosomal Dominant Familial Alzheimer Disease due to the S170F Mutation of Presenilin-1
Neurodegenerative Diseases
◽
10.1159/000485899
◽
2018
◽
Vol 18
(2-3)
◽
pp. 57-68
Author(s):
Hannes O. Tiedt
◽
Beate Benjamin
◽
Michael Niedeggen
◽
Andreas Lueschow
Keyword(s):
Alzheimer Disease
◽
Autosomal Dominant
◽
Phenotypic Variability
◽
Presenilin 1
◽
Familial Alzheimer Disease
Download Full-text
Faculty Opinions recommendation of APP locus duplication causes autosomal dominant early-onset Alzheimer disease with cerebral amyloid angiopathy.
Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature
◽
10.3410/f.4119.496314
◽
2006
◽
Author(s):
Florence Thibaut
Keyword(s):
Alzheimer Disease
◽
Cerebral Amyloid Angiopathy
◽
Early Onset
◽
Autosomal Dominant
◽
Amyloid Angiopathy
◽
Cerebral Amyloid
Download Full-text
No association between an intronic polymorphism in the presenilin-1 gene and Alzheimer disease in a German population
Journal of the Neurological Sciences
◽
10.1016/s0022-510x(99)00131-8
◽
1999
◽
Vol 167
(1)
◽
pp. 34-36
◽
Cited By ~ 10
Author(s):
Metin Bagli
◽
Andreas Papassotiropoulos
◽
Sibylle G. Schwab
◽
Frank Jessen
◽
Marie Luise Rao
◽
...
Keyword(s):
Alzheimer Disease
◽
Presenilin 1
◽
German Population
◽
Intronic Polymorphism
Download Full-text
Expression of familial Alzheimer disease presenilin 1 gene attenuates vesicle traffic and reduces peptide secretion in cultured astrocytes devoid of pathologic tissue environment
Glia
◽
10.1002/glia.22931
◽
2015
◽
Vol 64
(2)
◽
pp. 317-329
◽
Cited By ~ 36
Author(s):
Matjaž Stenovec
◽
Saša Trkov
◽
Eva Lasič
◽
Slavica Terzieva
◽
Marko Kreft
◽
...
Keyword(s):
Alzheimer Disease
◽
Presenilin 1
◽
Vesicle Traffic
◽
Cultured Astrocytes
◽
Familial Alzheimer Disease
◽
Peptide Secretion
Download Full-text
A novel presenilin 1 mutation (L174 M) in a large Cuban family with early onset Alzheimer disease
Neurogenetics
◽
10.1007/s10048-002-0136-6
◽
2002
◽
Vol 4
(2)
◽
pp. 97-104
◽
Cited By ~ 13
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
Download Full-text
[P2-489]: TOWARD AUGMENTING THE UNDERSTANDING OF GENETICS IN MEXICANS AT RISK OF AUTOSOMAL DOMINANT ALZHEIMER DISEASE
Alzheimer s & Dementia
◽
10.1016/j.jalz.2017.06.1146
◽
2017
◽
Vol 13
(7S_Part_17)
◽
pp. P827-P828
Author(s):
Angélica Zuno Reyes
◽
Mellissa Withers
◽
Esmeralda Matute
◽
Lourdes Ramírez Dueñas
◽
Lucy Montoya
◽
...
Keyword(s):
At Risk
◽
Alzheimer Disease
◽
Autosomal Dominant
Download Full-text
Different rates of cognitive decline in autosomal dominant and late‐onset Alzheimer disease
Alzheimer s & Dementia
◽
10.1002/alz.12505
◽
2021
◽
Author(s):
Virginia D. Buckles
◽
Chengjie Xiong
◽
Randall J. Bateman
◽
Jason Hassenstab
◽
Ricardo Allegri
◽
...
Keyword(s):
Alzheimer Disease
◽
Cognitive Decline
◽
Autosomal Dominant
◽
Late Onset
Download Full-text
IC-04-02: SERUM NEUROFILAMENT LIGHT CHAIN LEVELS ARE ASSOCIATED WITH CORTICAL THICKNESS, BETA-AMYLOID BURDEN, AND CEREBRAL GLUCOSE METABOLISM IN AUTOSOMAL DOMINANT ALZHEIMER DISEASE
Alzheimer s & Dementia
◽
10.1016/j.jalz.2018.06.2050
◽
2006
◽
Vol 14
(7S_Part_1)
◽
pp. P7-P8
Author(s):
Stephanie A. Schultz
◽
Anja Apel
◽
Oliver Preische
◽
Jens Kuhle
◽
Brian A. Gordon
◽
...
Keyword(s):
Glucose Metabolism
◽
Alzheimer Disease
◽
Cortical Thickness
◽
Light Chain
◽
Autosomal Dominant
◽
Beta Amyloid
◽
Cerebral Glucose Metabolism
◽
Amyloid Burden
◽
Neurofilament Light Chain
◽
Neurofilament Light
Download Full-text
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