Molecular neuropathology of frontotemporal dementia: insights into disease mechanisms from postmortem studies

IRA Mackenzie, M Neumann - Journal of neurochemistry, 2016 - Wiley Online Library
Frontotemporal dementia (FTD) is a clinical syndrome with a heterogeneous molecular
basis. The past decade has seen the discovery of several new FTD‐causing genetic …

Clinical spectrum of amyotrophic lateral sclerosis (ALS)

LI Grad, GA Rouleau, J Ravits… - Cold Spring …, 2017 - perspectivesinmedicine.cshlp.org
Amyotrophic lateral sclerosis (ALS) is primarily characterized by progressive loss of motor
neurons, although there is marked phenotypic heterogeneity between cases. Typical, or …

Loss of C9 ORF 72 impairs autophagy and synergizes with polyQ Ataxin‐2 to induce motor neuron dysfunction and cell death

C Sellier, ML Campanari, C Julie Corbier… - The EMBO …, 2016 - embopress.org
An intronic expansion of GGGGCC repeats within the C9 ORF 72 gene is the most common
genetic cause of amyotrophic lateral sclerosis and frontotemporal dementia (ALS‐FTD) …

[HTML][HTML] Arizona study of aging and neurodegenerative disorders and brain and body donation program

TG Beach, CH Adler, LI Sue, G Serrano… - … : official journal of the …, 2015 - ncbi.nlm.nih.gov
Abstract The Brain and Body Donation Program (BBDP) at Banner Sun Health Research
Institute (http://www. brainandbodydonationprogram. org) started in 1987 with brain-only …

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 …

C9orf72 expansions in frontotemporal dementia and amyotrophic lateral sclerosis

JD Rohrer, AM Isaacs, S Mizielinska, S Mead… - The Lancet …, 2015 - thelancet.com
C9orf72 hexanucleotide repeat expansions are the most common cause of familial
frontotemporal dementia (FTD) and amyotrophic lateral sclerosis (ALS) worldwide. The …

An update on clinical, genetic and pathological aspects of frontotemporal lobar degenerations

T Lashley, JD Rohrer, S Mead… - Neuropathology and …, 2015 - Wiley Online Library
The development of our understanding of frontotemporal dementia (FTD) has gathered pace
over the last 10 years. After taking a back seat to A lzheimer's disease for many years FTD …

C9orf72 arginine-rich dipeptide repeat proteins disrupt karyopherin-mediated nuclear import

LR Hayes, L Duan, K Bowen, P Kalab, JD Rothstein - Elife, 2020 - elifesciences.org
Disruption of nucleocytoplasmic transport is increasingly implicated in the pathogenesis of
neurodegenerative diseases, including ALS caused by a C9orf72 hexanucleotide repeat …

The clinical spectrum of sporadic and familial forms of frontotemporal dementia

IOC Woollacott, JD Rohrer - Journal of neurochemistry, 2016 - Wiley Online Library
The term frontotemporal dementia (FTD) describes a clinically, genetically and
pathologically diverse group of neurodegenerative disorders. Symptoms of FTD can present …

Genetics of FTLD: overview and what else we can expect from genetic studies

C Pottier, TA Ravenscroft… - Journal of …, 2016 - Wiley Online Library
Frontotemporal lobar degeneration (FTLD) comprises a highly heterogeneous group of
disorders clinically associated with behavioral and personality changes, language …