Author: "Rita Cacace" - OpacWWW

Go to position: 1.

Title:: The role of ATP-binding cassette subfamily A in the etiology of Alzheimer’s disease
Authors:: Liene Bossaerts
Rita Cacace
Christine Van Broeckhoven; Show more
Subject Terms:: ATP-binding cassette transporter
ABCA1
ABCA2
ABCA5
ABCA7
Alzheimer’s disease
Neurology. Diseases of the nervous system
RC346-429
Geriatrics
RC952-954.6
Source:: Molecular Neurodegeneration, Vol 17, Iss 1, Pp 1-12 (2022)
File Description:: electronic resource
Relation:: https://doaj.org/toc/1750-1326
Access URL:: https://doaj.org/article/57d621852e5a433f95d865cbdc4cfb5c Link opens in a new window

Academic Journal

Go to position: 2.

Title:: Rare missense mutations in ABCA7 might increase Alzheimer’s disease risk by plasma membrane exclusion
Authors:: Liene Bossaerts
Elisabeth Hendrickx Van de Craen
Rita Cacace
Bob Asselbergh
Christine Van Broeckhoven; Show more
Subject Terms:: Alzheimer’s disease
ABCA7
Missense mutations
Mislocalization
Neurology. Diseases of the nervous system
RC346-429
Source:: Acta Neuropathologica Communications, Vol 10, Iss 1, Pp 1-15 (2022)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2051-5960
Access URL:: https://doaj.org/article/bbd0b799216a4576bed36b566e2d7f07 Link opens in a new window

Academic Journal

Go to position: 3.

Title:: Emerging genetic complexity and rare genetic variants in neurodegenerative brain diseases
Authors:: Federica Perrone
Rita Cacace
Julie van der Zee
Christine Van Broeckhoven; Show more
Subject Terms:: Neurodegenerative brain diseases
Alzheimer’s disease
Parkinson’s disease
Frontotemporal dementia
Amyotrophic lateral sclerosis
Rare coding variants
Medicine
Genetics
QH426-470
Source:: Genome Medicine, Vol 13, Iss 1, Pp 1-13 (2021)
File Description:: electronic resource
Relation:: https://doaj.org/toc/1756-994X
Access URL:: https://doaj.org/article/f86322bba726436f994db3a10d32e2f0 Link opens in a new window

Academic Journal

Go to position: 4.

Title:: Amyloid-β1–43 cerebrospinal fluid levels and the interpretation of APP, PSEN1 and PSEN2 mutations
Authors:: Federica Perrone
Maria Bjerke
Elisabeth Hens
Anne Sieben
Maarten Timmers
Arne De Roeck
Rik Vandenberghe
Kristel Sleegers
Jean-Jacques Martin
Peter P. De Deyn
Sebastiaan Engelborghs
Julie van der Zee
Christine Van Broeckhoven
Rita Cacace
on behalf of the BELNEU Consortium; Show more
Subject Terms:: Alzheimer’s disease (AD)
Amyloid-β 1–43 (Aβ1–43)
Cerebrospinal fluid (CSF)
Alzheimer mutations
Oxford Nanopore Technologies (ONT) long-read sequencing
Neurosciences. Biological psychiatry. Neuropsychiatry
RC321-571
Neurology. Diseases of the nervous system
RC346-429
Source:: Alzheimer’s Research & Therapy, Vol 12, Iss 1, Pp 1-14 (2020)
File Description:: electronic resource
Relation:: http://link.springer.com/article/10.1186/s13195-020-00676-5; https://doaj.org/toc/1758-9193
Access URL:: https://doaj.org/article/3a66eaa6876e44d293dc52f63c72776e Link opens in a new window

Academic Journal

Go to position: 5.

Title:: NanoSatellite: accurate characterization of expanded tandem repeat length and sequence through whole genome long-read sequencing on PromethION
Authors:: Arne De Roeck
Wouter De Coster
Liene Bossaerts
Rita Cacace
Tim De Pooter
Jasper Van Dongen
Svenn D’Hert
Peter De Rijk
Mojca Strazisar
Christine Van Broeckhoven
Kristel Sleegers; Show more
Subject Terms:: Long-read whole genome sequencing
Dynamic time warping (DTW)
Variable number tandem repeat (VNTR)
ATP-binding cassette
Sub-family A
Member 7 (ABCA7)
Biology (General)
QH301-705.5
Genetics
QH426-470
Source:: Genome Biology, Vol 20, Iss 1, Pp 1-16 (2019)
File Description:: electronic resource
Relation:: http://link.springer.com/article/10.1186/s13059-019-1856-3; https://doaj.org/toc/1474-760X
Access URL:: https://doaj.org/article/1d02fd4ea8c841ecbdd6acbde58630b6 Link opens in a new window

Academic Journal

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Go to position: 6.

Title:: Insight into the genetic etiology of Alzheimer's disease: A comprehensive review of the role of rare variants
Authors:: Julie Hoogmartens
Rita Cacace
Christine Van Broeckhoven; Show more
Subject Terms:: Alzheimer's disease
biological pathways of disease
familial AD
genetic etiology
rare variants
sporadic AD
Neurology. Diseases of the nervous system
RC346-429
Geriatrics
RC952-954.6
Source:: Alzheimer’s & Dementia: Diagnosis, Assessment & Disease Monitoring, Vol 13, Iss 1, Pp n/a-n/a (2021)
File Description:: electronic resource
Relation:: https://doaj.org/toc/2352-8729
Access URL:: https://doaj.org/article/a00e7f1e85d94724bdefd5a6b823b454 Link opens in a new window

Academic Journal

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