Common variants at 7p21 are associated with frontotemporal lobar degeneration with TDP-43 inclusions

VM Van Deerlin, PMA Sleiman, M Martinez-Lage… - Nature …, 2010 - nature.com
Frontotemporal lobar degeneration (FTLD) is the second most common cause of presenile
dementia. The predominant neuropathology is FTLD with TAR DNA-binding protein (TDP …

Whole-genome sequencing reveals important role for TBK1 and OPTN mutations in frontotemporal lobar degeneration without motor neuron disease

C Pottier, KF Bieniek, NC Finch, M van de Vorst… - Acta …, 2015 - Springer
Frontotemporal lobar degeneration with TAR DNA-binding protein 43 inclusions (FTLD-
TDP) is the most common pathology associated with frontotemporal dementia (FTD). Repeat …

TMEM 106B p. T185S regulates TMEM 106B protein levels: implications for frontotemporal dementia

AM Nicholson, NCA Finch, A Wojtas… - Journal of …, 2013 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) is the second leading cause of dementia in
individuals under age 65. In many patients, the predominant pathology includes neuronal …

The TMEM106B locus and TDP-43 pathology in older persons without FTLD

L Yu, PL De Jager, J Yang, JQ Trojanowski… - Neurology, 2015 - AAN Enterprises
Objective: To determine the independent association of the TMEM106B variants with
transactive response DNA binding protein 43 (TDP-43) pathology in older persons without …

Common variation in the miR-659 binding-site of GRN is a major risk factor for TDP43-positive frontotemporal dementia

R Rademakers, JL Eriksen, M Baker… - Human molecular …, 2008 - academic.oup.com
Loss-of-function mutations in progranulin (GRN) cause ubiquitin-and TAR DNA-binding
protein 43 (TDP-43)-positive frontotemporal dementia (FTLD-U), a progressive …

TMEM106B, the risk gene for frontotemporal dementia, is regulated by the microRNA-132/212 cluster and affects progranulin pathways

AS Chen-Plotkin, TL Unger, MD Gallagher… - Journal of …, 2012 - Soc Neuroscience
Frontotemporal lobar degeneration with TDP-43 inclusions (FTLD-TDP) is a fatal
neurodegenerative disease with no available treatments. Mutations in the progranulin gene …

[HTML][HTML] The wide genetic landscape of clinical frontotemporal dementia: systematic combined sequencing of 121 consecutive subjects

C Blauwendraat, C Wilke, J Simón-Sánchez… - Genetics in …, 2018 - nature.com
Methods We investigated the frequencies and mutations in neurodegenerative disease
genes in 121 consecutive FTD subjects using an unbiased, combined sequencing …

Genetic screening of a large series of North American sporadic and familial frontotemporal dementia cases

EM Ramos, DR Dokuru, V Van Berlo… - Alzheimer's & …, 2020 - Wiley Online Library
Abstract Introduction The Advancing Research and Treatment for Frontotemporal Lobar
Degeneration (ARTFL) and Longitudinal Evaluation of Familial Frontotemporal Dementia …

Genotype–phenotype links in frontotemporal lobar degeneration

S Van Mossevelde, S Engelborghs… - Nature Reviews …, 2018 - nature.com
Frontotemporal lobar degeneration (FTLD) represents a group of neurodegenerative brain
diseases with highly heterogeneous clinical, neuropathological and genetic characteristics …

Risk genotypes at TMEM106B are associated with cognitive impairment in amyotrophic lateral sclerosis

R Vass, E Ashbridge, F Geser, WT Hu… - Acta …, 2011 - Springer
TMEM106B has recently been identified as a genetic risk factor for frontotemporal lobar
degeneration with TDP-43 inclusions (FTLD-TDP). Amyotrophic lateral sclerosis (ALS), like …