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Molecular and synaptic defects in intellectual disability syndromes
Current Opinion in Neurobiology, 2012The search for genetic causes of intellectual disability has identified, over the past twenty years, numerous mutated genes that code for proteins concerned with synapse function. Functional studies have shown that these genes may be involved in synapse formation, the synthesis and degradation of specific synapse proteins, the regulation of dendritic ...
Chiara Verpelli, Carlo Sala
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Mutations of the synapse genes and intellectual disability syndromes
European Journal of Pharmacology, 2013Intellectual disability syndromes have been found associated to numerous mutated genes that code for proteins functionally involved in synapse formation, the regulation of dendritic spine morphology, the regulation of the synaptic cytoskeleton or the synthesis and degradation of specific synapse proteins.
Chiara Verpelli +4 more
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Syndromes causing intellectual disability
2012AbstractPsychiatrists working with people who have intellectual disability (mental retardation) need expertise in the diagnosis and treatment of associated neuropsychiatric disorders. This entails knowledge of the causes of intellectual disability, and especially knowledge about those syndromal (often genetic) causes that are associated with ...
David M. Clarke, Shoumitro Deb
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Visual Performance in Specific Syndromes Associated with Intellectual Disability
European Journal of Ophthalmology, 2003Purpose To report visual performance in adults with specific causes of intellectual disability (ID) and to compare the test results to published reports. Methods In a large-scale multicenter epidemiologic study of sensory impairments ...
van Splunder, J (Jacques) +2 more
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Syndromes of Intellectual Disability
2019Intellectual disability (ID) may be caused by countless disorders and syndromes, many of which are still unknown. Understanding specific syndromes of ID can be helpful in better recognizing distinct presentations as well as being aware of co-occurring psychiatric and medical comorbidities.
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Genetic Syndromes Associated with Intellectual Disabilities
2010Intellectual disability, formerly referred to as mental retardation, is defined by significant limitations in cognitive functioning and the ability to adapt to the demands of daily life and an onset before the age of 18 years [1].
Leonard Abbeduto, Andrea McDuffie
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Genetically‐Linked Syndromes in Intellectual Disabilities
Journal of Policy and Practice in Intellectual Disabilities, 2004Abstract Comprehensive medical research is optimally based on a clear understanding of the pathogenesis of disease. It follows that a research agenda designed to promote healthy aging in persons with genetic syndromes linked to intellectual disabilities is best based upon a clear understanding of biological events that have occurred at early stages of ...
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A new intellectual disability syndrome with digital anomalies
Clinical Dysmorphology, 2012Patrícia, Dias +2 more
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