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 …
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is characterised by the progressive loss of motor neurons in
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …
the brain and spinal cord. This neurodegenerative syndrome shares pathobiological …
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 …
Amyotrophic lateral sclerosis: moving towards a new classification system
Amyotrophic lateral sclerosis is a progressive adult-onset neurodegenerative disease that
primarily affects upper and lower motor neurons, but also frontotemporal and other regions …
primarily affects upper and lower motor neurons, but also frontotemporal and other regions …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
Genome-wide study of DNA methylation shows alterations in metabolic, inflammatory, and cholesterol pathways in ALS
PJ Hop, RAJ Zwamborn, E Hannon… - Science translational …, 2022 - science.org
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with an estimated
heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) …
heritability between 40 and 50%. DNA methylation patterns can serve as proxies of (past) …
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 …
Controversies and priorities in amyotrophic lateral sclerosis
MR Turner, O Hardiman, M Benatar, BR Brooks… - The Lancet …, 2013 - thelancet.com
Two decades after the discovery that 20% of familial amyotrophic lateral sclerosis (ALS)
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …
cases were linked to mutations in the superoxide dismutase-1 (SOD1) gene, a substantial …
Changes in cognition and behaviour in amyotrophic lateral sclerosis: nature of impairment and implications for assessment
LH Goldstein, S Abrahams - The Lancet Neurology, 2013 - thelancet.com
Increased awareness of cognitive and behavioural change in amyotrophic lateral sclerosis
has been driven by various clinic-based and population-based studies. A frontotemporal …
has been driven by various clinic-based and population-based studies. A frontotemporal …
Cognitive and clinical characteristics of patients with amyotrophic lateral sclerosis carrying a C9orf72 repeat expansion: a population-based cohort study
Background Amyotrophic lateral sclerosis (ALS) is a progressive neurodegenerative
disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) …
disease of upper and lower motor neurons, associated with frontotemporal dementia (FTD) …