Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis

SA Goutman, O Hardiman, A Al-Chalabi… - The Lancet …, 2022 - thelancet.com
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …

Genetic epidemiology of amyotrophic lateral sclerosis: a systematic review and meta-analysis

ZY Zou, ZR Zhou, CH Che, CY Liu, RL He… - Journal of Neurology …, 2017 - jnnp.bmj.com
Background Genetic studies have shown that C9orf72, SOD1, TARDBP and FUS are the
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …

Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation

J Li, MK Jaiswal, JF Chien, A Kozlenkov, J Jung… - Nature …, 2023 - nature.com
A repeat expansion in the C9orf72 (C9) gene is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …

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 …

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 epidemiology of ALS: a conspiracy of genes, environment and time

A Al-Chalabi, O Hardiman - Nature Reviews Neurology, 2013 - nature.com
Amyotrophic lateral sclerosis (ALS) is a relentlessly progressive neurodegenerative disease
of motor neurons, resulting in worsening weakness of voluntary muscles until death from …

Stages of pTDP‐43 pathology in amyotrophic lateral sclerosis

J Brettschneider, K Del Tredici, JB Toledo… - Annals of …, 2013 - Wiley Online Library
Objective To see whether the distribution patterns of phosphorylated 43kDa TAR DNA‐
binding protein (pTDP‐43) intraneuronal inclusions in amyotrophic lateral sclerosis (ALS) …

[HTML][HTML] Antisense Oligonucleotides for the Study and Treatment of ALS

BD Boros, KM Schoch, CJ Kreple, TM Miller - Neurotherapeutics, 2022 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease characterized by
motor neuron loss. ALS is now associated with mutations in numerous genes, many of which …

Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death

X Wen, W Tan, T Westergard, K Krishnamurthy… - Neuron, 2014 - cell.com
Summary Expanded GGGGCC (G4C2) nucleotide repeats within the C9ORF72 gene are the
most common genetic mutation associated with both amyotrophic lateral sclerosis (ALS) and …

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 …