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Advances in molecular pathology, diagnosis, and treatment of amyotrophic lateral sclerosis
H Ilieva, M Vullaganti, J Kwan - bmj, 2023 - bmj.com
Although the past two decades have produced exciting discoveries in the genetics and
pathology of amyotrophic lateral sclerosis (ALS), progress in develo** an effective therapy …
pathology of amyotrophic lateral sclerosis (ALS), progress in develo** an effective therapy …
The sense of antisense therapies in ALS
SH Van Daele, P Masrori, P Van Damme… - Trends in Molecular …, 2024 - cell.com
Abstract Treatment of patients with amyotrophic lateral sclerosis (ALS) has entered a new
era now that encouraging results about antisense oligonucleotides (ASOs) are becoming …
era now that encouraging results about antisense oligonucleotides (ASOs) are becoming …
Mis-spliced transcripts generate de novo proteins in TDP-43–related ALS/FTD
Functional loss of TDP-43, an RNA binding protein genetically and pathologically linked to
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD), leads to the …
Common and rare variant association analyses in amyotrophic lateral sclerosis identify 15 risk loci with distinct genetic architectures and neuron-specific biology
W Van Rheenen, RAA Van Der Spek, MK Bakker… - Nature …, 2021 - nature.com
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disease with a lifetime risk
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
of one in 350 people and an unmet need for disease-modifying therapies. We conducted a …
[HTML][HTML] Genome-wide identification of the genetic basis of amyotrophic lateral sclerosis
Amyotrophic lateral sclerosis (ALS) is a complex disease that leads to motor neuron death.
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
Despite heritability estimates of 52%, genome-wide association studies (GWASs) have …
TDP-43 pathology: from noxious assembly to therapeutic removal
Our understanding of amyotrophic lateral sclerosis and frontotemporal dementia has
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …
advanced dramatically since the discovery of cytoplasmic TAR DNA-binding protein 43 (TDP …
Cell environment shapes TDP-43 function with implications in neuronal and muscle disease
Abstract TDP-43 (TAR DNA-binding protein 43) aggregation and redistribution are
recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As …
recognised as a hallmark of amyotrophic lateral sclerosis and frontotemporal dementia. As …
Stage-specific control of oligodendrocyte survival and morphogenesis by TDP-43
Generation of oligodendrocytes in the adult brain enables both adaptive changes in neural
circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging …
circuits and regeneration of myelin sheaths destroyed by injury, disease, and normal aging …
Transcriptomic analysis of frontotemporal lobar degeneration with TDP-43 pathology reveals cellular alterations across multiple brain regions
Frontotemporal lobar degeneration (FTLD) is a group of heterogeneous neurodegenerative
disorders affecting the frontal and temporal lobes of the brain. Nuclear loss and cytoplasmic …
disorders affecting the frontal and temporal lobes of the brain. Nuclear loss and cytoplasmic …
Cryptic exon inclusion is a molecular signature of LATE-NC in aging brains
The aggregation, mislocalization, and phosphorylation of TDP-43 are pathologic hallmarks
of several neurodegenerative diseases and provide a defining criterion for the …
of several neurodegenerative diseases and provide a defining criterion for the …