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Amyotrophic lateral sclerosis: translating genetic discoveries into therapies
Recent advances in sequencing technologies and collaborative efforts have led to
substantial progress in identifying the genetic causes of amyotrophic lateral sclerosis (ALS) …
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 …
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 …
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 …
pathology which, in turn, is categorized largely according to the observed accumulation of …
The epidemiology of ALS: a conspiracy of genes, environment and time
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 …
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 …
invariably leading to death within a few years of onset. Most cases of ALS are sporadic, but …
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 …
upper and lower motor neurons. The disease leads to relentlessly progressive weakness of …
[HTML][HTML] Hexanucleotide repeats in ALS/FTD form length-dependent RNA foci, sequester RNA binding proteins, and are neurotoxic
Summary The GGGGCC (G4C2) intronic repeat expansion within C9ORF72 is the most
common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …
common genetic cause of amyotrophic lateral sclerosis (ALS) and frontotemporal dementia …
C9ORF72 repeat expansion causes vulnerability of motor neurons to Ca2+-permeable AMPA receptor-mediated excitotoxicity
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 …
(ALS). Here, through a combination of RNA-Seq and electrophysiological studies on …
Identification of risk factors associated with onset and progression of amyotrophic lateral sclerosis using systematic review and meta-analysis
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 …
years ago, risk factors related to the onset and progression of ALS remain largely unknown …