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) …
State of play in amyotrophic lateral sclerosis genetics
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 …
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 …
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 …
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 …
amyotrophic lateral sclerosis (ALS) and 9,013 control subjects and evaluated all SNPs with …
Biomarkers in amyotrophic lateral sclerosis
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 …
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
Since associations between complex diseases and common variants are typically weak, and
approaches to genotyping rare variants (eg by next-generation resequencing) multiply, there …
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 …
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 …
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
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 …
motor neuron diseases (MNDs), particularly for amyotrophic lateral sclerosis and hereditary …