[HTML][HTML] The genetic landscape of Alzheimer disease: clinical implications and perspectives

C Van Cauwenberghe, C Van Broeckhoven… - Genetics in …, 2016 - nature.com
The search for the genetic factors contributing to Alzheimer disease (AD) has evolved
tremendously throughout the years. It started from the discovery of fully penetrant mutations …

[HTML][HTML] Alzheimer's disease genetics: from the bench to the clinic

CM Karch, C Cruchaga, AM Goate - Neuron, 2014 - cell.com
Alzheimer's disease (AD) is a clinically heterogeneous neurodegenerative disease with a
strong genetic component. Several genes have been associated with AD risk for nearly 20 …

[HTML][HTML] New insights into the genetic etiology of Alzheimer's disease and related dementias

C Bellenguez, F Küçükali, IE Jansen, L Kleineidam… - Nature …, 2022 - nature.com
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …

[PDF][PDF] C9orf72 deficiency promotes microglial-mediated synaptic loss in aging and amyloid accumulation

D Lall, I Lorenzini, TA Mota, S Bell, TE Mahan… - Neuron, 2021 - cell.com
C9orf72 repeat expansions cause inherited amyotrophic lateral sclerosis
(ALS)/frontotemporal dementia (FTD) and result in both loss of C9orf72 protein expression …

Genetic insights in Alzheimer's disease

K Bettens, K Sleegers, C Van Broeckhoven - The lancet neurology, 2013 - thelancet.com
In the search for new genes in Alzheimer's disease, classic linkage-based and candidate-
gene-based association studies have been supplanted by exome sequencing, genome …

[HTML][HTML] Rare Variants in APP, PSEN1 and PSEN2 Increase Risk for AD in Late-Onset Alzheimer's Disease Families

C Cruchaga, S Chakraverty, K Mayo, FLM Vallania… - PloS one, 2012 - journals.plos.org
Pathogenic mutations in APP, PSEN1, PSEN2, MAPT and GRN have previously been linked
to familial early onset forms of dementia. Mutation screening in these genes has been …

[HTML][HTML] The genetics and neuropathology of frontotemporal lobar degeneration

A Sieben, T Van Langenhove, S Engelborghs… - Acta …, 2012 - Springer
Frontotemporal lobar degeneration (FTLD) is a heterogeneous group of disorders
characterized by disturbances of behavior and personality and different types of language …

Targeting microglia for the treatment of Alzheimer's Disease

PD Wes, FA Sayed, F Bard, L Gan - Glia, 2016 - Wiley Online Library
While histological changes in microglia have long been recognized as a pathological
feature of Alzheimer's disease (AD), recent genetic association studies have also strongly …

[HTML][HTML] Microglia and astrocyte involvement in neurodegeneration and brain cancer

AA Vandenbark, H Offner, S Matejuk… - Journal of …, 2021 - Springer
The brain is unique and the most complex organ of the body, containing neurons and
several types of glial cells of different origins and properties that protect and ensure normal …

Plasma progranulin levels predict progranulin mutation status in frontotemporal dementia patients and asymptomatic family members

NC Finch, M Baker, R Crook, K Swanson, K Kuntz… - Brain, 2009 - academic.oup.com
Mutations in the progranulin gene (GRN) are an important cause of frontotemporal lobar
degeneration (FTLD) with ubiquitin and TAR DNA-binding protein 43 (TDP43)-positive …