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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 …
Frontotemporal lobar degeneration
Frontotemporal lobar degeneration (FTLD) is one of the most common causes of early-onset
dementia and presents with early social–emotional–behavioural and/or language changes …
dementia and presents with early social–emotional–behavioural and/or language changes …
ALS genetics: gains, losses, and implications for future therapies
Amyotrophic lateral sclerosis (ALS) is a fatal neurodegenerative disorder caused by the loss
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
of motor neurons from the brain and spinal cord. The ALS community has made remarkable …
C9orf72-mediated ALS and FTD: multiple pathways to disease
The discovery that repeat expansions in the C9orf72 gene are a frequent cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD) has revolutionized …
Recommendations to distinguish behavioural variant frontotemporal dementia from psychiatric disorders
The behavioural variant of frontotemporal dementia (bvFTD) is a frequent cause of early-
onset dementia. The diagnosis of bvFTD remains challenging because of the limited …
onset dementia. The diagnosis of bvFTD remains challenging because of the limited …
Divergent single cell transcriptome and epigenome alterations in ALS and FTD patients with C9orf72 mutation
A repeat expansion in the C9orf72 (C9) gene is the most common genetic cause of
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …
amyotrophic lateral sclerosis (ALS) and frontotemporal dementia (FTD). Here we investigate …
Uncovering the heterogeneity and temporal complexity of neurodegenerative diseases with Subtype and Stage Inference
The heterogeneity of neurodegenerative diseases is a key confound to disease
understanding and treatment development, as study cohorts typically include multiple …
understanding and treatment development, as study cohorts typically include multiple …
The ALS/FTLD associated protein C9orf72 associates with SMCR8 and WDR41 to regulate the autophagy-lysosome pathway
Hexanucleotide repeat expansion in the C9orf72 gene is a leading cause of frontotemporal
lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS). Reduced expression of …
lobar degeneration (FTLD) with amyotrophic lateral sclerosis (ALS). Reduced expression of …
Frontotemporal dementia: latest evidence and clinical implications
JJ Young, M Lavakumar, D Tampi… - Therapeutic …, 2018 - journals.sagepub.com
Background: Frontotemporal dementia (FTD) describes a cluster of neurocognitive
syndromes that present with impairment of executive functioning, changes in behavior, and …
syndromes that present with impairment of executive functioning, changes in behavior, and …
Human C9ORF72 hexanucleotide expansion reproduces RNA foci and dipeptide repeat proteins but not neurodegeneration in BAC transgenic mice
A non-coding hexanucleotide repeat expansion in the C9ORF72 gene is the most common
mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal …
mutation associated with familial amyotrophic lateral sclerosis (ALS) and frontotemporal …