Amyotrophic lateral sclerosis: a clinical review

P Masrori, P Van Damme - European journal of neurology, 2020 - Wiley Online Library
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder affecting primarily the
motor system, but in which extra‐motor manifestations are increasingly recognized. The loss …

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 …

TDP-43 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A

AL Brown, OG Wilkins, MJ Keuss, SE Hill, M Zanovello… - Nature, 2022 - nature.com
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …

TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A

XR Ma, M Prudencio, Y Koike, SC Vatsavayai, G Kim… - Nature, 2022 - nature.com
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …

Prognosis for patients with amyotrophic lateral sclerosis: development and validation of a personalised prediction model

HJ Westeneng, TPA Debray, AE Visser… - The Lancet …, 2018 - thelancet.com
Background Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive, fatal motor
neuron disease with a variable natural history. There are no accurate models that predict the …

The era of cryptic exons: implications for ALS-FTD

PR Mehta, AL Brown, ME Ward, P Fratta - Molecular Neurodegeneration, 2023 - Springer
TDP-43 is an RNA-binding protein with a crucial nuclear role in splicing, and mislocalises
from the nucleus to the cytoplasm in a range of neurodegenerative disorders. TDP-43 …

The phenotypic variability of amyotrophic lateral sclerosis

B Swinnen, W Robberecht - Nature Reviews Neurology, 2014 - nature.com
Classic textbook neurology teaches that amyotrophic lateral sclerosis (ALS) is a
degenerative disease that selectively affects upper and lower motor neurons and is fatal 3–5 …

The changing scene of amyotrophic lateral sclerosis

W Robberecht, T Philips - Nature Reviews Neuroscience, 2013 - nature.com
Several recent breakthroughs have provided notable insights into the pathogenesis of
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …

Pharmacotherapy for amyotrophic lateral sclerosis: a review of approved and upcoming agents

SA Johnson, T Fang, F De Marchi, D Neel… - Drugs, 2022 - Springer
Amyotrophic lateral sclerosis (ALS) is a rapidly progressive neurodegenerative disorder
involving loss of upper and lower motor neurons, with most cases ending in death within 3–5 …

TDP-43-regulated cryptic RNAs accumulate in Alzheimer's disease brains

V Estades Ayuso, S Pickles, T Todd, M Yue… - Molecular …, 2023 - Springer
Abstract Background Inclusions of TAR DNA-binding protein 43 kDa (TDP-43) has been
designated limbic-predominant, age-related TDP-43 encephalopathy (LATE), with or without …