ALS genetics, mechanisms, and therapeutics: where are we now?

R Mejzini, LL Flynn, IL Pitout, S Fletcher… - Frontiers in …, 2019 - frontiersin.org
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …

Amyotrophic lateral sclerosis-frontotemporal spectrum disorder (ALS-FTSD): Revised diagnostic criteria

MJ Strong, S Abrahams, LH Goldstein… - … lateral sclerosis and …, 2017 - Taylor & Francis
This article presents the revised consensus criteria for the diagnosis of frontotemporal
dysfunction in amyotrophic lateral sclerosis (ALS) based on an international research …

A comprehensive review of amyotrophic lateral sclerosis

S Zarei, K Carr, L Reiley, K Diaz… - Surgical neurology …, 2015 - pmc.ncbi.nlm.nih.gov
Amyotrophic lateral sclerosis (ALS) is a late-onset fatal neurodegenerative disease affecting
motor neurons with an incidence of about 1/100,000. Most ALS cases are sporadic, but 5 …

RNA-binding proteins with prion-like domains in health and disease

AF Harrison, J Shorter - Biochemical Journal, 2017 - portlandpress.com
Approximately 70 human RNA-binding proteins (RBPs) contain a prion-like domain (PrLD).
PrLDs are low-complexity domains that possess a similar amino acid composition to prion …

Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis

SC Ling, M Polymenidou, DW Cleveland - Neuron, 2013 - cell.com
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …

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 …

Gene discovery in amyotrophic lateral sclerosis: implications for clinical management

A Al-Chalabi, LH Van Den Berg, J Veldink - Nature Reviews Neurology, 2017 - nature.com
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease predominantly affecting
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …

Motor neuron susceptibility in ALS/FTD

AMG Ragagnin, S Shadfar, M Vidal… - Frontiers in …, 2019 - frontiersin.org
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disease characterized by the
death of both upper and lower motor neurons (MNs) in the brain, brainstem and spinal cord …

Divergent roles of ALS-linked proteins FUS/TLS and TDP-43 intersect in processing long pre-mRNAs

C Lagier-Tourenne, M Polymenidou, KR Hutt… - Nature …, 2012 - nature.com
FUS/TLS (fused in sarcoma/translocated in liposarcoma) and TDP-43 are integrally involved
in amyotrophic lateral sclerosis (ALS) and frontotemporal dementia. We found that FUS/TLS …

Genetics of amyotrophic lateral sclerosis

M Ghasemi, RH Brown - Cold Spring …, 2018 - perspectivesinmedicine.cshlp.org
Amyotrophic lateral sclerosis (ALS) is a devastating, uniformly lethal degenerative disorder
of motor neurons that overlaps clinically with frontotemporal dementia (FTD). Investigations …