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) …

State of play in amyotrophic lateral sclerosis genetics

AE Renton, A Chiò, BJ Traynor - Nature neuroscience, 2014 - nature.com
Considerable progress has been made in unraveling the genetic etiology of amyotrophic
lateral sclerosis (ALS), the most common form of adult-onset motor neuron disease and the …

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 …

A HapMap harvest of insights into the genetics of common disease

TA Manolio, LD Brooks… - The Journal of clinical …, 2008 - Am Soc Clin Investig
The International HapMap Project was designed to create a genome-wide database of
patterns of human genetic variation, with the expectation that these patterns would be useful …

Genome-wide association study identifies 19p13.3 (UNC13A) and 9p21.2 as susceptibility loci for sporadic amyotrophic lateral sclerosis

MA Van Es, JH Veldink, CGJ Saris, HM Blauw… - Nature …, 2009 - nature.com
We conducted a genome-wide association study among 2,323 individuals with sporadic
amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with …

Biomarkers in amyotrophic lateral sclerosis

MR Turner, MC Kiernan, PN Leigh, K Talbot - The Lancet Neurology, 2009 - thelancet.com
Amyotrophic lateral sclerosis (ALS; motor neuron disease) is a relentlessly progressive
disorder. After half a century of trials, only one drug with modest disease-modifying potency …

A data-adaptive sum test for disease association with multiple common or rare variants

F Han, W Pan - Human heredity, 2010 - karger.com
Since associations between complex diseases and common variants are typically weak, and
approaches to genotyping rare variants (eg by next-generation resequencing) multiply, there …

Variants of the elongator protein 3 ( ELP3 ) gene are associated with motor neuron degeneration

CL Simpson, R Lemmens, K Miskiewicz… - Human molecular …, 2009 - academic.oup.com
Amyotrophic lateral sclerosis (ALS) is a spontaneous, relentlessly progressive motor neuron
disease, usually resulting in death from respiratory failure within 3 years. Variation in the …

Chromosome 9p21 in amyotrophic lateral sclerosis in Finland: a genome-wide association study

H Laaksovirta, T Peuralinna, JC Schymick… - The Lancet …, 2010 - thelancet.com
Background The genetic cause of amyotrophic lateral sclerosis (ALS) is not well understood.
Finland is a well suited location for a genome-wide association study of ALS because the …

Genetics of motor neuron disorders: new insights into pathogenic mechanisms

PA Dion, H Daoud, GA Rouleau - Nature Reviews Genetics, 2009 - nature.com
The past few years have seen the identification of dozens of genes with causal roles in
motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary …