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 …

Decoding ALS: from genes to mechanism

JP Taylor, RH Brown Jr, DW Cleveland - Nature, 2016 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressive and uniformly fatal neurodegenerative
disease. A plethora of genetic factors have been identified that drive the degeneration of …

[HTML][HTML] 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 …

[HTML][HTML] 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 …

Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes

J Humphrey, S Venkatesh, R Hasan, JT Herb… - Nature …, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …

[PDF][PDF] Genome-wide analyses identify KIF5A as a novel ALS gene

A Nicolas, KP Kenna, AE Renton, N Ticozzi, F Faghri… - Neuron, 2018 - cell.com
To identify novel genes associated with ALS, we undertook two lines of investigation. We
carried out a genome-wide association study comparing 20,806 ALS cases and 59,804 …

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 …

Genome-wide association analyses identify new risk variants and the genetic architecture of amyotrophic lateral sclerosis

W Van Rheenen, A Shatunov, AM Dekker… - Nature …, 2016 - nature.com
To elucidate the genetic architecture of amyotrophic lateral sclerosis (ALS) and find
associated loci, we assembled a custom imputation reference panel from whole-genome …

[HTML][HTML] A comprehensive review of amyotrophic lateral sclerosis

S Zarei, K Carr, L Reiley, K Diaz, O Guerra… - Surgical neurology …, 2015 - 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 …

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …