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Resistance to autos...
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Arboleda-Velasquez, Joseph F
(author)
Resistance to autosomal dominant Alzheimer's disease in an APOE3 Christchurch homozygote: a case report.
- Article/chapterEnglish2019
Publisher, publication year, extent ...
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2019-11-04
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Springer Science and Business Media LLC,2019
Numbers
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LIBRIS-ID:oai:gup.ub.gu.se/287257
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https://gup.ub.gu.se/publication/287257URI
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https://doi.org/10.1038/s41591-019-0611-3DOI
Supplementary language notes
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Subject category:ref swepub-contenttype
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Subject category:art swepub-publicationtype
Notes
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We identified a PSEN1 (presenilin 1) mutation carrier from the world's largest autosomal dominant Alzheimer's disease kindred, who did not develop mild cognitive impairment until her seventies, three decades after the expected age of clinical onset. The individual had two copies of the APOE3 Christchurch (R136S) mutation, unusually high brain amyloid levels and limited tau and neurodegenerative measurements. Our findings have implications for the role of APOE in the pathogenesis, treatment and prevention of Alzheimer's disease.
Subject headings and genre
Added entries (persons, corporate bodies, meetings, titles ...)
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Lopera, Francisco
(author)
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O'Hare, Michael
(author)
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Delgado-Tirado, Santiago
(author)
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Marino, Claudia
(author)
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Chmielewska, Natalia
(author)
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Saez-Torres, Kahira L
(author)
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Amarnani, Dhanesh
(author)
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Schultz, Aaron P
(author)
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Sperling, Reisa A
(author)
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Leyton-Cifuentes, David
(author)
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Chen, Kewei
(author)
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Baena, Ana
(author)
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Aguillon, David
(author)
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Rios-Romenets, Silvia
(author)
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Giraldo, Margarita
(author)
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Guzmán-Vélez, Edmarie
(author)
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Norton, Daniel J
(author)
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Pardilla-Delgado, Enmanuelle
(author)
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Artola, Arabiye
(author)
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Sanchez, Justin S
(author)
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Acosta-Uribe, Juliana
(author)
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Lalli, Matthew
(author)
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Kosik, Kenneth S
(author)
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Huentelman, Matthew J
(author)
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Zetterberg, Henrik,1973Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xzethe
(author)
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Blennow, Kaj,1958Gothenburg University,Göteborgs universitet,Institutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi,Institute of Neuroscience and Physiology, Department of Psychiatry and Neurochemistry(Swepub:gu)xbleka
(author)
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Reiman, Rebecca A
(author)
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Luo, Ji
(author)
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Chen, Yinghua
(author)
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Thiyyagura, Pradeep
(author)
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Su, Yi
(author)
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Jun, Gyungah R
(author)
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Naymik, Marcus
(author)
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Gai, Xiaowu
(author)
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Bootwalla, Moiz
(author)
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Ji, Jianling
(author)
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Shen, Lishuang
(author)
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Miller, John B
(author)
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Kim, Leo A
(author)
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Tariot, Pierre N
(author)
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Johnson, Keith A
(author)
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Reiman, Eric M
(author)
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Quiroz, Yakeel T
(author)
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Göteborgs universitetInstitutionen för neurovetenskap och fysiologi, sektionen för psykiatri och neurokemi
(creator_code:org_t)
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In:Nature medicine: Springer Science and Business Media LLC25:11, s. 1680-16831546-170X1078-8956
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Arboleda-Velasqu ...
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Lopera, Francisc ...
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O'Hare, Michael
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Delgado-Tirado, ...
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Marino, Claudia
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Chmielewska, Nat ...
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Saez-Torres, Kah ...
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Amarnani, Dhanes ...
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Schultz, Aaron P
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Sperling, Reisa ...
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Leyton-Cifuentes ...
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Chen, Kewei
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Baena, Ana
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Aguillon, David
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Rios-Romenets, S ...
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Giraldo, Margari ...
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Guzmán-Vélez, Ed ...
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Norton, Daniel J
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Pardilla-Delgado ...
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Artola, Arabiye
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Sanchez, Justin ...
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Acosta-Uribe, Ju ...
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Lalli, Matthew
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Kosik, Kenneth S
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Huentelman, Matt ...
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Zetterberg, Henr ...
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Blennow, Kaj, 19 ...
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Reiman, Rebecca ...
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Luo, Ji
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Chen, Yinghua
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Thiyyagura, Prad ...
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Su, Yi
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Jun, Gyungah R
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Naymik, Marcus
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Gai, Xiaowu
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Bootwalla, Moiz
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Ji, Jianling
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Shen, Lishuang
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Miller, John B
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Kim, Leo A
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Tariot, Pierre N
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Johnson, Keith A
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Reiman, Eric M
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Quiroz, Yakeel T
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- About the subject
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- MEDICAL AND HEALTH SCIENCES
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MEDICAL AND HEAL ...
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and Basic Medicine
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and Neurosciences
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Nature medicine
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University of Gothenburg