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The GABAergic hypothesis for cognitive disabilities in down syndrome
Down syndrome (DS) is a genetic disorder caused by the presence of a third copy of
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …
chromosome 21. DS affects multiple organs, but it invariably results in altered brain …
Translational validity and implications of pharmacotherapies in preclinical models of Down syndrome
N Rueda, J Flórez, M Dierssen… - Progress in Brain Research, 2020 - Elsevier
Neurodevelopmental disorders are challenging to study in the laboratory, and despite a
large investment, few novel treatments have been developed in the last decade. While …
large investment, few novel treatments have been developed in the last decade. While …
Evidence that increased Kcnj6 gene dose is necessary for deficits in behavior and dentate gyrus synaptic plasticity in the Ts65Dn mouse model of Down syndrome
AM Kleschevnikov, J Yu, J Kim, LV Lysenko… - Neurobiology of …, 2017 - Elsevier
Abstract Down syndrome (DS), trisomy 21, is caused by increased dose of genes present on
human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the …
human chromosome 21 (HSA21). The gene-dose hypothesis argues that a change in the …
Unbalanced dendritic inhibition of CA1 neurons drives spatial-memory deficits in the Ts2Cje Down syndrome model
S Valbuena, Á García, W Mazier, AV Paternain… - Nature …, 2019 - nature.com
Overinhibition is assumed one of the main causes of cognitive deficits (eg memory
impairment) in mouse models of Down syndrome (DS). Yet the mechanisms that drive such …
impairment) in mouse models of Down syndrome (DS). Yet the mechanisms that drive such …
Neuroanatomical alterations in higher-order thalamic nuclei of fetuses with Down syndrome
F Stagni, A Giacomini, M Emili, B Uguagliati… - Clinical Neurology and …, 2020 - Elsevier
Objectives Down syndrome (DS) is a genetic condition characterized by cognitive disability
starting from infancy. Children with DS exhibit deficits in several cognitive domains …
starting from infancy. Children with DS exhibit deficits in several cognitive domains …
Challenges and opportunities for translation of therapies to improve cognition in Down syndrome
SE Lee, M Duran-Martinez, S Khantsis… - Trends in molecular …, 2020 - cell.com
While preclinical studies have reported improvement of behavioral deficits in the Ts65Dn
mouse model of Down syndrome (DS), translation to human clinical trials to improve …
mouse model of Down syndrome (DS), translation to human clinical trials to improve …
Brain circuit pathology in Down syndrome: from neurons to neural networks
R Bartesaghi - Reviews in the Neurosciences, 2023 - degruyter.com
Down syndrome (DS), a genetic pathology caused by triplication of chromosome 21, is
characterized by brain hypotrophy and impairment of cognition starting from infancy. While …
characterized by brain hypotrophy and impairment of cognition starting from infancy. While …
A novel variant in TAF1 affects gene expression and is associated with X-linked TAF1 intellectual disability syndrome
We investigated the genome of a 5-year-old male who presented with global developmental
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …
delay (motor, cognitive, and speech), hypotonia, possibly ataxia, and cerebellar hypoplasia …
Enhanced GIRK2 channel signaling in Down syndrome: A feasible role in the development of abnormal nascent neural circuits
AM Kleschevnikov - Frontiers in Genetics, 2022 - frontiersin.org
The most distinctive feature of Down syndrome (DS) is moderate to severe cognitive
impairment. Genetic, molecular, and neuronal mechanisms of this complex DS phenotype …
impairment. Genetic, molecular, and neuronal mechanisms of this complex DS phenotype …
Glucagon-like peptide-1 cleavage product improves cognitive function in a mouse model of Down syndrome
Currently there is no effective therapy available for cognitive impairments in Down syndrome
(DS), one of the most prevalent forms of intellectual disability in humans associated with the …
(DS), one of the most prevalent forms of intellectual disability in humans associated with the …