Atypical frontotemporal lobar degeneration with ubiquitin-positive, TDP-43-negative neuronal inclusions

IRA Mackenzie, D Foti, J Woulfe, TA Hurwitz - Brain, 2008 - academic.oup.com
Frontotemporal lobar degeneration with ubiquitinated inclusions (FTLD-U) is the most
common neuropathology associated with the clinical syndrome of frontotemporal dementia …

Molecular pathology and genetic advances in amyotrophic lateral sclerosis: an emerging molecular pathway and the significance of glial pathology

PG Ince, JR Highley, J Kirby, SB Wharton… - Acta …, 2011 - Springer
Research into amyotrophic lateral sclerosis (ALS) has been stimulated by a series of genetic
and molecular pathology discoveries. The hallmark neuronal cytoplasmic inclusions of …

ALS and FTLD: two faces of TDP‐43 proteinopathy

RM Liscic, LT Grinberg, J Zidar… - European journal of …, 2008 - Wiley Online Library
Major discoveries have been made in the recent past in the genetics, biochemistry and
neuropathology of frontotemporal lobar degeneration (FTLD). TAR DNA‐binding protein 43 …

The role of transactive response DNA-binding protein-43 in amyotrophic lateral sclerosis and frontotemporal dementia

IRA Mackenzie, R Rademakers - Current opinion in neurology, 2008 - journals.lww.com
The recent discovery of pathological TDP-43 in both amyotrophic lateral sclerosis and
frontotemporal lobar degeneration with ubiquitinated inclusions confirms that these are …

Reduced CSF p-Tau181 to Tau ratio is a biomarker for FTLD-TDP

WT Hu, K Watts, M Grossman, J Glass, JJ Lah… - Neurology, 2013 - AAN Enterprises
Objectives: To validate the ability of candidate CSF biomarkers to distinguish between the 2
main forms of frontotemporal lobar degeneration (FTLD), FTLD with TAR DNA-binding …

Functional significance of TDP-43 mutations in disease

E Buratti - Advances in genetics, 2015 - Elsevier
At present, there are very few therapeutic options for patients affected by amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD). However, almost all patients affected by …

Plasma phosphorylated tau 217 and phosphorylated tau 181 as biomarkers in Alzheimer's disease and frontotemporal lobar degeneration: a retrospective diagnostic …

EH Thijssen, R La Joie, A Strom, C Fonseca… - The Lancet …, 2021 - thelancet.com
Background Plasma tau phosphorylated at threonine 217 (p-tau217) and plasma tau
phosphorylated at threonine 181 (p-tau181) are associated with Alzheimer's disease tau …

TDP-43 in familial and sporadic frontotemporal lobar degeneration with ubiquitin inclusions

NJ Cairns, M Neumann, EH Bigio, IE Holm… - The American journal of …, 2007 - Elsevier
TAR DNA-binding protein 43 (TDP-43) is a major pathological protein of sporadic and
familial frontotemporal lobar degeneration with ubiquitin-positive, tau-negative inclusions …

Cytoplasmic mislocalization of TDP-43 is toxic to neurons and enhanced by a mutation associated with familial amyotrophic lateral sclerosis

SJ Barmada, G Skibinski, E Korb, EJ Rao… - Journal of …, 2010 - Soc Neuroscience
Mutations in the gene encoding TDP-43—the major protein component of neuronal
aggregates characteristic of amyotrophic lateral sclerosis (ALS) and frontotemporal lobar …

TDP-43/FUS in motor neuron disease: Complexity and challenges

EN Guerrero, H Wang, J Mitra, PM Hegde… - Progress in …, 2016 - Elsevier
Amyotrophic lateral sclerosis (ALS), a common motor neuron disease affecting two per
100,000 people worldwide, encompasses at least five distinct pathological subtypes …