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 …
ALS genetics, mechanisms, and therapeutics: where are we now?
The scientific landscape surrounding amyotrophic lateral sclerosis (ALS) continues to shift
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
as the number of genes associated with the disease risk and pathogenesis, and the cellular …
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 …
Excessive burden of lysosomal storage disorder gene variants in Parkinson's disease
LA Robak, IE Jansen, J Van Rooij, AG Uitterlinden… - Brain, 2017 - academic.oup.com
Mutations in the glucocerebrosidase gene (GBA), which cause Gaucher disease, are also
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …
potent risk factors for Parkinson's disease. We examined whether a genetic burden of …
ALS genes in the genomic era and their implications for FTD
HP Nguyen, C Van Broeckhoven, J van der Zee - Trends in Genetics, 2018 - cell.com
Amyotrophic lateral sclerosis (ALS) is a complex neurodegenerative disease, characterized
genetically by a disproportionately large contribution of rare genetic variation. Driven by …
genetically by a disproportionately large contribution of rare genetic variation. Driven by …
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 …
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 …
[HTML][HTML] Exome-wide rare variant analysis identifies TUBA4A mutations associated with familial ALS
Exome sequencing is an effective strategy for identifying human disease genes. However,
this methodology is difficult in late-onset diseases where limited availability of DNA from …
this methodology is difficult in late-onset diseases where limited availability of DNA from …
NEK1 variants confer susceptibility to amyotrophic lateral sclerosis
KP Kenna, PTC Van Doormaal, AM Dekker, N Ticozzi… - Nature …, 2016 - nature.com
To identify genetic factors contributing to amyotrophic lateral sclerosis (ALS), we conducted
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
whole-exome analyses of 1,022 index familial ALS (FALS) cases and 7,315 controls. In a …
Lifetime risk and heritability of amyotrophic lateral sclerosis
M Ryan, M Heverin, RL McLaughlin… - JAMA neurology, 2019 - jamanetwork.com
Importance Heritability describes the proportion of variance in the risk of developing a
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …
condition that is explained by genetic factors. Although amyotrophic lateral sclerosis (ALS) is …