NMDA and AMPA receptors dysregulation in Alzheimer's disease
P Babaei - European Journal of Pharmacology, 2021 - Elsevier
Alzheimer's disease (AD) is a progressive neurodegenerative condition characterized by
cognitive dysfunction and synaptic failure. The current therapeutic approaches are mainly …
cognitive dysfunction and synaptic failure. The current therapeutic approaches are mainly …
Genetics of autism spectrum disorder
G Ramaswami, DH Geschwind - Handbook of clinical neurology, 2018 - Elsevier
Autism spectrum disorder (ASD) is a prevalent neurodevelopmental disorder characterized
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex …
by impaired social interaction and stereotyped behaviors. ASD has a strong and complex …
[HTML][HTML] Meta-analysis of SHANK Mutations in Autism Spectrum Disorders: A Gradient of Severity in Cognitive Impairments
CS Leblond, C Nava, A Polge, J Gauthier… - PLoS …, 2014 - journals.plos.org
SHANK genes code for scaffold proteins located at the post-synaptic density of
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …
glutamatergic synapses. In neurons, SHANK2 and SHANK3 have a positive effect on the …
Genetics of autism spectrum disorders
DH Geschwind - Trends in cognitive sciences, 2011 - cell.com
Characterized by a combination of abnormalities in language, social cognition and mental
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …
flexibility, autism is not a single disorder but a neurodevelopmental syndrome commonly …
Autistic-like social behaviour in Shank2-mutant mice improved by restoring NMDA receptor function
Autism spectrum disorder (ASD) is a group of conditions characterized by impaired social
interaction and communication, and restricted and repetitive behaviours. ASD is a highly …
interaction and communication, and restricted and repetitive behaviours. ASD is a highly …
Autistic-like behaviours and hyperactivity in mice lacking ProSAP1/Shank2
MJ Schmeisser, E Ey, S Wegener, J Bockmann… - Nature, 2012 - nature.com
Autism spectrum disorders comprise a range of neurodevelopmental disorders
characterized by deficits in social interaction and communication, and by repetitive …
characterized by deficits in social interaction and communication, and by repetitive …
Genetic architecture in autism spectrum disorder
B Devlin, SW Scherer - Current opinion in genetics & development, 2012 - Elsevier
Autism spectrum disorder (ASD) is characterized by impairments in reciprocal social
interaction and communication, and by restricted and repetitive behaviors. Family studies …
interaction and communication, and by restricted and repetitive behaviors. Family studies …
[HTML][HTML] Modeling autism by SHANK gene mutations in mice
Y Jiang, MD Ehlers - Neuron, 2013 - cell.com
Shank family proteins (Shank1, Shank2, and Shank3) are synaptic scaffolding proteins that
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …
organize an extensive protein complex at the postsynaptic density (PSD) of excitatory …
The genetic landscapes of autism spectrum disorders
G Huguet, E Ey, T Bourgeron - Annual review of genomics and …, 2013 - annualreviews.org
The autism spectrum disorders (ASD) are characterized by impairments in social interaction
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
and stereotyped behaviors. For the majority of individuals with ASD, the causes of the …
[HTML][HTML] Genetic and Functional Analyses of SHANK2 Mutations Suggest a Multiple Hit Model of Autism Spectrum Disorders
CS Leblond, J Heinrich, R Delorme, C Proepper… - PLoS …, 2012 - journals.plos.org
Autism spectrum disorders (ASD) are a heterogeneous group of neurodevelopmental
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …
disorders with a complex inheritance pattern. While many rare variants in synaptic proteins …