Synaptic dysfunction in neurodevelopmental disorders associated with autism and intellectual disabilities
… of syndromic autism spectrum disorders and intellectual disabilities has greatly informed
our understanding of the molecular pathways critical for normal synaptic function. The top-down …
our understanding of the molecular pathways critical for normal synaptic function. The top-down …
Synaptic dysfunction and intellectual disability
P Valnegri, C Sala, M Passafaro�- Synaptic plasticity: Dynamics�…, 2012 - Springer
Intellectual disability (ID) is a common and highly heterogeneous paediatric disorder with a
very severe social impact. Intellectual disability can be caused by environmental and/or …
very severe social impact. Intellectual disability can be caused by environmental and/or …
[BOOK][B] Neuronal and synaptic dysfunction in autism spectrum disorder and intellectual disability
C Sala, C Verpelli - 2016 - books.google.com
… also manifest severe intellectual disability. Though certain … and discusses the crucial role
synaptic activity plays in proper … able to counteract functional synaptic anomalies and potentially …
synaptic activity plays in proper … able to counteract functional synaptic anomalies and potentially …
Synaptic dysfunction in amygdala in intellectual disorder models
… encoded intellectual disabilities (ID). Yet, more than 100 human X-linked genes – and several
hundreds of autosomal genes - have been associated with ID in humans. These mutations …
hundreds of autosomal genes - have been associated with ID in humans. These mutations …
Molecular and synaptic defects in intellectual disability syndromes
C Verpelli, C Sala�- Current opinion in neurobiology, 2012 - Elsevier
… intellectual disability has identified, over the past twenty years, numerous mutated genes that
code for proteins concerned with synapse … responsible for intellectual disability syndromes. …
code for proteins concerned with synapse … responsible for intellectual disability syndromes. …
Synaptopathies: synaptic dysfunction in neurological disorders–A review from students to students
K Lepeta, MV Lourenco, BC Schweitzer…�- Journal of�…, 2016 - Wiley Online Library
… intellectual disability (ID). It is caused by a mutation in the FMR1 gene that encodes the
Fragile X mental retardation protein (FMRP), which regulates trafficking, stability, and translation …
Fragile X mental retardation protein (FMRP), which regulates trafficking, stability, and translation …
Emerging major synaptic signaling pathways involved in intellectual disability
A Pavlowsky, J Chelly, P Billuart�- Molecular psychiatry, 2012 - nature.com
… Recent remarkable progress, which allows to establish consistent correlations between
deregulation of well-known signaling pathways and synaptic dysfunction, should open …
deregulation of well-known signaling pathways and synaptic dysfunction, should open …
New insights on synaptic dysfunction in neuropsychiatric disorders
… Spine dysgenesis was one of the earliest biological findings in intellectual disability patients
[34], accompanied by dendritic abnormalities in cortical pyramidal neurons in these patients […
[34], accompanied by dendritic abnormalities in cortical pyramidal neurons in these patients […
[HTML][HTML] Synaptopathies in developmental and epileptic encephalopathies: A focus on pre-synaptic dysfunction
G Spoto, G Valentini, MC Saia, A Butera…�- Frontiers in�…, 2022 - frontiersin.org
… synergy among these synaptic components is defined as “… with cognitive disturbances/intellectual
disability, autistic features, and … presenting with epilepsy and intellectual disability (ID). …
disability, autistic features, and … presenting with epilepsy and intellectual disability (ID). …
Mutations of the synapse genes and intellectual disability syndromes
C Verpelli, C Montani, C Vicidomini, C Heise…�- European journal of�…, 2013 - Elsevier
… of major synaptic proteins or the synaptic actin cytoskeleton assembly or disassembly. In
this review we will describe some molecular mechanisms by which dysfunctions in several of …
this review we will describe some molecular mechanisms by which dysfunctions in several of …
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