COGNITIVE VULNERABILITIES IN PRESENILIN-1 E280A MUTATION-CARRYING CHILDREN FROM THE WORLD’S LARGEST AUTOSOMAL-DOMINANT ALZHEIMER’S DISEASE KINDRED

Alzheimer s & Dementia ◽

10.1016/j.jalz.2017.07.108 ◽

2017 ◽

Vol 13 (7) ◽

pp. P225-P226

Author(s):

Yakeel T. Quiroz ◽

Margaret Pulsifer ◽

Kewei Chen ◽

Dora Ramirez ◽

Natalia Londono ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Cognitive Vulnerabilities ◽

Autosomal Dominant Alzheimer’S Disease

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Florbetapir PET analysis of amyloid-β deposition in the presenilin 1 E280A autosomal dominant Alzheimer's disease kindred: a cross-sectional study

The Lancet Neurology ◽

10.1016/s1474-4422(12)70227-2 ◽

2012 ◽

Vol 11 (12) ◽

pp. 1057-1065 ◽

Author(s):

Adam S Fleisher ◽

Kewei Chen ◽

Yakeel T Quiroz ◽

Laura J Jakimovich ◽

Madelyn Gutierrez Gomez ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Cross Sectional Study ◽

Presenilin 1 ◽

Sectional Study ◽

Cross Sectional ◽

Autosomal Dominant Alzheimer’S Disease

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Familial cases presenting very early onset autosomal dominant Alzheimer’s disease with I143T in presenilin-1 gene: implication for genotype–phenotype correlation

Neurogenetics ◽

10.1007/s10048-007-0104-2 ◽

2007 ◽

Vol 9 (1) ◽

pp. 65-67 ◽

Author(s):

Noritoshi Arai ◽

Atsushi Kishino ◽

Yuji Takahashi ◽

Daiji Morita ◽

Koichiro Nakamura ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Early Onset ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Phenotype Correlation ◽

Familial Cases ◽

Genotype Phenotype Correlation ◽

Autosomal Dominant Alzheimer’S Disease

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A novel presenilin 1 mutation, I202F occurring at a previously predicted pathogenic site causing autosomal dominant Alzheimer's disease

Neurobiology of Aging ◽

10.1016/j.neurobiolaging.2010.09.030 ◽

2011 ◽

Vol 32 (3) ◽

pp. 556.e1-556.e2 ◽

Author(s):

Alistair Church ◽

Junita Prescott ◽

Suzanne Lillis ◽

Janice Rees ◽

Patrick Chance ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Autosomal Dominant Alzheimer’S Disease ◽

Presenilin 1 Mutation

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A novel presenilin 1 missense mutation (L153V) segregating with early-onset autosomal dominant Alzheimer's disease

Human Mutation ◽

10.1002/1098-1004(200007)16:1<95::aid-humu28>3.0.co;2-h ◽

2000 ◽

Vol 16 (1) ◽

pp. 95-95 ◽

Author(s):

G. Raux ◽

R. Gantier ◽

C. Martin ◽

Y. Pothin ◽

A. Brice ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Missense Mutation ◽

Early Onset ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Autosomal Dominant Alzheimer’S Disease

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PET evidence of preclinical cerebellar amyloid plaque deposition in autosomal dominant Alzheimer’s disease-causing Presenilin-1 E280A mutation carriers

NeuroImage Clinical ◽

10.1016/j.nicl.2021.102749 ◽

2021 ◽

pp. 102749

Author(s):

Valentina Ghisays ◽

Francisco Lopera ◽

Dhruman D. Goradia ◽

Hillary D. Protas ◽

Michael H. Malek-Ahmadi ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Amyloid Plaque ◽

Presenilin 1 ◽

Plaque Deposition ◽

Mutation Carriers ◽

Autosomal Dominant Alzheimer’S Disease

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PLASMA NEUROFILAMENT LIGHT MEASUREMENTS IN MORE THAN 2,100 PRESENILIN-1 E280A MUTATION CARRIERS AND NON-CARRIERS FROM THE WORLD’S LARGEST AUTOSOMAL DOMINANT ALZHEIMER’S DISEASE KINDRED

Alzheimer s & Dementia ◽

10.1016/j.jalz.2019.06.4861 ◽

2019 ◽

Vol 15 (7) ◽

pp. P1627-P1628 ◽

Author(s):

Yakeel T. Quiroz ◽

Henrik Zetterberg ◽

Eric M. Reiman ◽

Yinghua Chen ◽

Gloria Garcia ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Neurofilament Light ◽

Mutation Carriers ◽

Autosomal Dominant Alzheimer’S Disease

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The R269H mutation in presenilin-1 presenting as late-onset autosomal dominant Alzheimer's disease

Journal of the Neurological Sciences ◽

10.1016/j.jns.2006.11.013 ◽

2007 ◽

Vol 252 (2) ◽

pp. 173-176 ◽

Author(s):

A.J. Larner ◽

P.S. Ray ◽

M. Doran

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Presenilin 1 ◽

Autosomal Dominant Alzheimer’S Disease

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Tau Positron Emission Tomography (PET) Longitudinal Substudy Associated With: Study of Crenezumab Versus Placebo in Preclinical Presenilin1 (PSEN1) E280A Mutation Carriers in the Treatment of Autosomal-Dominant Alzheimer's Disease

Case Medical Research ◽

10.31525/ct1-nct03977584 ◽

2019 ◽

Author(s):

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Positron Emission Tomography ◽

Autosomal Dominant ◽

Emission Tomography ◽

Mutation Carriers ◽

Positron Emission ◽

Autosomal Dominant Alzheimer’S Disease

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Faculty Opinions recommendation of Spatial patterns of neuroimaging biomarker change in individuals from families with autosomal dominant Alzheimer's disease: a longitudinal study.

Faculty Opinions – Post-Publication Peer Review of the Biomedical Literature ◽

10.3410/f.732604965.793544529 ◽

2018 ◽

Author(s):

Ralph Mistlberger ◽

Brianne A Kent

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Longitudinal Study ◽

Spatial Patterns ◽

Autosomal Dominant ◽

Autosomal Dominant Alzheimer’S Disease

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Abnormal retinal capillary blood flow in autosomal dominant Alzheimer's disease

Alzheimer s & Dementia Diagnosis Assessment & Disease Monitoring ◽

10.1002/dad2.12162 ◽

2021 ◽

Vol 13 (1) ◽

Author(s):

Maxwell B. Singer ◽

John M. Ringman ◽

Zhongdi Chu ◽

Xiao Zhou ◽

Xuejuan Jiang ◽

...

Keyword(s):

Alzheimer’S Disease ◽

Alzheimer's Disease ◽

Autosomal Dominant ◽

Capillary Blood ◽

Capillary Blood Flow ◽

Autosomal Dominant Alzheimer’S Disease ◽

Retinal Capillary

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