Amyotrophic lateral sclerosis: a neurodegenerative disorder poised for successful therapeutic translation
Amyotrophic lateral sclerosis (ALS) is a devastating disease caused by degeneration of
motor neurons. As with all major neurodegenerative disorders, development of disease …
motor neurons. As with all major neurodegenerative disorders, development of disease …
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 …
A generalized linear mixed model association tool for biobank-scale data
Compared with linear mixed model-based genome-wide association (GWA) methods,
generalized linear mixed model (GLMM)-based methods have better statistical properties …
generalized linear mixed model (GLMM)-based methods have better statistical properties …
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) …
TDP-43 represses cryptic exon inclusion in the FTD–ALS gene UNC13A
A hallmark pathological feature of the neurodegenerative diseases amyotrophic lateral
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
sclerosis (ALS) and frontotemporal dementia (FTD) is the depletion of RNA-binding protein …
Integrative transcriptomic analysis of the amyotrophic lateral sclerosis spinal cord implicates glial activation and suggests new risk genes
Amyotrophic lateral sclerosis (ALS) is a progressively fatal neurodegenerative disease
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
affecting motor neurons in the brain and spinal cord. In this study, we investigated gene …
Single-cell DNA methylation and 3D genome architecture in the human brain
Delineating the gene-regulatory programs underlying complex cell types is fundamental for
understanding brain function in health and disease. Here, we comprehensively examined …
understanding brain function in health and disease. Here, we comprehensively examined …
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 …
Brain cell type–specific enhancer–promoter interactome maps and disease-risk association
Noncoding genetic variation is a major driver of phenotypic diversity, but functional
interpretation is challenging. To better understand common genetic variation associated with …
interpretation is challenging. To better understand common genetic variation associated with …
Genomic atlas of the proteome from brain, CSF and plasma prioritizes proteins implicated in neurological disorders
Understanding the tissue-specific genetic controls of protein levels is essential to uncover
mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic …
mechanisms of post-transcriptional gene regulation. In this study, we generated a genomic …