Emerging insights into the complex genetics and pathophysiology of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal neurodegenerative disease. The discovery of genes
associated with amyotrophic lateral sclerosis, commencing with SOD1 in 1993, started fairly …
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 …
most common mutated genes in amyotrophic lateral sclerosis (ALS). Here, we performed a …
Converging mechanisms in ALS and FTD: disrupted RNA and protein homeostasis
Breakthrough discoveries identifying common genetic causes for amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) have transformed our view of these …
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 …
degenerative disease that selectively affects upper and lower motor neurons and is fatal 3–5 …
Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation
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 …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …
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 …
of motor neurons, resulting in worsening weakness of voluntary muscles until death from …
Antisense proline-arginine RAN dipeptides linked to C9ORF72-ALS/FTD form toxic nuclear aggregates that initiate in vitro and in vivo neuronal death
Summary Expanded GGGGCC (G4C2) nucleotide repeats within the C9ORF72 gene are the
most common genetic mutation associated with both amyotrophic lateral sclerosis (ALS) and …
most common genetic mutation associated with both amyotrophic lateral sclerosis (ALS) and …
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) …
binding protein (pTDP‐43) intraneuronal inclusions in amyotrophic lateral sclerosis (ALS) …
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 …
amyotrophic lateral sclerosis (ALS), with some even shifting our thinking about this …
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS), also known as motor neuron disease, is characterized
by the degeneration of both upper and lower motor neurons, which leads to muscle …
by the degeneration of both upper and lower motor neurons, which leads to muscle …