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Advanced genetic therapies for the treatment of Rett syndrome: state of the art and future perspectives
M Palmieri, D Pozzer, N Landsberger - Frontiers in Neuroscience, 2023 - frontiersin.org
Loss and gain of functions mutations in the X-linked MECP2 (methyl-CpG-binding protein 2)
gene are responsible for a set of generally severe neurological disorders that can affect both …
gene are responsible for a set of generally severe neurological disorders that can affect both …
[HTML][HTML] The role of insulin/IGF1 signalling in neurodevelopmental and neuropsychiatric disorders–evidence from human neuronal cell models
JM Réthelyi, K Vincze, D Schall, J Glennon… - … & Biobehavioral Reviews, 2023 - Elsevier
Insulin and insulin-like growth factor 1 (IGF1) signalling play a central role in the
development and maintenance of neurons in the brain, and human neurodevelopmental as …
development and maintenance of neurons in the brain, and human neurodevelopmental as …
Insights into the structure and function of the hippocampus: implications for the pathophysiology and treatment of autism spectrum disorder
J Long, H Li, Y Liu, X Liao, Z Tang, K Han… - Frontiers in …, 2024 - frontiersin.org
The hippocampus is one of the brain areas affected by autism spectrum disorder (ASD).
Individuals with ASD typically have impairments in hippocampus-dependent learning …
Individuals with ASD typically have impairments in hippocampus-dependent learning …
Re-formation of synaptic connectivity in dissociated human stem cell-derived retinal organoid cultures
Human pluripotent stem cell (hPSC)-derived retinal organoids (ROs) can efficiently and
reproducibly generate retinal neurons that have potential for use in cell replacement …
reproducibly generate retinal neurons that have potential for use in cell replacement …
Mechanisms underlying the effect of voluntary running on adult hippocampal neurogenesis
Adult hippocampal neurogenesis is important for preserving learning and memory‐related
cognitive functions. Physical exercise, especially voluntary running, is one of the strongest …
cognitive functions. Physical exercise, especially voluntary running, is one of the strongest …
The Mef2c gene dose-dependently controls hippocampal neurogenesis and the expression of autism-like behaviors
S Basu, EJ Ro, Z Liu, H Kim, A Bennett… - Journal of …, 2024 - jneurosci.org
Mutations in the activity-dependent transcription factor MEF2C have been associated with
several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related …
several neuropsychiatric disorders. Among these, autism spectrum disorder (ASD)-related …
[HTML][HTML] Severe offtarget effects following intravenous delivery of AAV9-MECP2 in a female mouse model of Rett syndrome
V Matagne, E Borloz, Y Ehinger, L Saidi, L Villard… - Neurobiology of …, 2021 - Elsevier
Rett syndrome (RTT) is a severe X-linked neurodevelopmental disorder that is primarily
caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second …
caused by mutations in the methyl CpG binding protein 2 gene (MECP2). RTT is the second …
Excitation and inhibition imbalance in Rett syndrome
W Li - Frontiers in Neuroscience, 2022 - frontiersin.org
A loss of the excitation/inhibition (E/I) balance in the neural circuit has emerged as a
common neuropathological feature in many neurodevelopmental disorders. Rett syndrome …
common neuropathological feature in many neurodevelopmental disorders. Rett syndrome …
Mitochondrial dysfunction and increased reactive oxygen species production in MECP2 mutant astrocytes and their impact on neurons
DL Tomasello, MI Barrasa, D Mankus, KI Alarcon… - Scientific Reports, 2024 - nature.com
Studies on MECP2 function and its implications in Rett Syndrome (RTT) have traditionally
centered on neurons. Here, using human embryonic stem cell (hESC) lines, we modeled …
centered on neurons. Here, using human embryonic stem cell (hESC) lines, we modeled …
[HTML][HTML] Rett syndrome and CDKL5 deficiency disorder: from bench to clinic
Rett syndrome (RTT) and CDKL5 deficiency disorder (CDD) are two rare X-linked
developmental brain disorders with overlap** but distinct phenotypic features. This review …
developmental brain disorders with overlap** but distinct phenotypic features. This review …