Amyotrophic lateral sclerosis: translating genetic discoveries into therapies

F Akçimen, ER Lopez, JE Landers, A Nath… - Nature Reviews …, 2023 - nature.com
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …

30 years of repeat expansion disorders: What have we learned and what are the remaining challenges?

C Depienne, JL Mandel - The American Journal of Human Genetics, 2021 - cell.com
Tandem repeats represent one of the most abundant class of variations in human genomes,
which are polymorphic by nature and become highly unstable in a length-dependent …

Genetics of amyotrophic lateral sclerosis: seeking therapeutic targets in the era of gene therapy

N Suzuki, A Nishiyama, H Warita, M Aoki - Journal of human genetics, 2023 - nature.com
Amyotrophic lateral sclerosis (ALS) is an intractable disease that causes respiratory failure
leading to mortality. The main locus of ALS is motor neurons. The success of antisense …

A clinicopathological approach to the diagnosis of dementia

FM Elahi, BL Miller - Nature Reviews Neurology, 2017 - nature.com
The most definitive classification systems for dementia are based on the underlying
pathology which, in turn, is categorized largely according to the observed accumulation of …

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 …

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 …

Genetics of amyotrophic lateral sclerosis: A review

S Mathis, C Goizet, A Soulages, JM Vallat… - Journal of the …, 2019 - Elsevier
Amyotrophic lateral sclerosis (ALS) is a neurodegenerative disorder of the motor pathways,
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …

[HTML][HTML] Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic

YB Lee, HJ Chen, JN Peres, J Gomez-Deza, J Attig… - Cell reports, 2013 - cell.com
Summary The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most
common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …

Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis

MD Wang, J Little, J Gomes, NR Cashman, D Krewski - Neurotoxicology, 2017 - Elsevier
Although amyotrophic lateral sclerosis (ALS) was identified as a neurological condition 150
years ago, risk factors related to the onset and progression of ALS remain largely unknown …

C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity

BT Selvaraj, MR Livesey, C Zhao, JM Gregory… - Nature …, 2018 - nature.com
Mutations in C9ORF72 are the most common cause of familial amyotrophic lateral sclerosis
(ALS). Here, through a combination of RNA-Seq and electrophysiological studies on …