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Hallmarks of neurodegenerative diseases
Decades of research have identified genetic factors and biochemical pathways involved in
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …
neurodegenerative diseases (NDDs). We present evidence for the following eight hallmarks …
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 …
Amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis is a fatal CNS neurodegenerative disease. Despite intensive
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
research, current management of amyotrophic lateral sclerosis remains suboptimal from …
New insights into the genetic etiology of Alzheimer's disease and related dementias
Abstract Characterization of the genetic landscape of Alzheimer's disease (AD) and related
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
dementias (ADD) provides a unique opportunity for a better understanding of the associated …
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 loss and ALS-risk SNPs drive mis-splicing and depletion of UNC13A
Variants of UNC13A, a critical gene for synapse function, increase the risk of amyotrophic
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
lateral sclerosis and frontotemporal dementia,–, two related neurodegenerative diseases …
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 …
Systematic rare variant analyses identify RAB32 as a susceptibility gene for familial Parkinson's disease
PJ Hop, D Lai, PJ Keagle, DM Baron, BJ Kenna… - Nature Genetics, 2024 - nature.com
Despite substantial progress, causal variants are identified only for a minority of familial
Parkinson's disease (PD) cases, leaving high-risk pathogenic variants unidentified,. To …
Parkinson's disease (PD) cases, leaving high-risk pathogenic variants unidentified,. To …
Mechanism of STMN2 cryptic splice-polyadenylation and its correction for TDP-43 proteinopathies
Loss of nuclear TDP-43 is a hallmark of neurodegeneration in TDP-43 proteinopathies,
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …
including amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). TDP-43 …
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 …