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Positron Emission Tomography (PET) Quantification of GABAA Receptors in the Brain of Fragile X Patients. [PDF]
Over the last several years, evidence has accumulated that the GABAA receptor is compromised in animal models for fragile X syndrome (FXS), a common hereditary form of intellectual disability.
Charlotte D'Hulst+11 more
doaj +1 more source
Aging, Fragility and Reversibility Window in Bulk Alloy Glasses [PDF]
Non-reversing relaxation enthalpies (DHnr) at glass transitions Tg(x) in the PxGexSe1-2x ternary display wide, sharp and deep global minima (~ 0) in the 0.09 < x < 0.145 range, within which Tgs become thermally reversing. In this reversibility window, glasses are found not to age, in contrast to aging observed for fragile glass compositions outside the
arxiv +1 more source
Fragile male, not fragile-X [PDF]
No doubt the fragile-X chromosome plays a small part in male disadvantage, but the point made in my review ([Kraemer, 2000][1]), referred to by [Branney & White (2008)][2], is that the male is biologically less resilient.
openaire +2 more sources
Fragile X mental retardation 1 gene enhances the translation of large autism-related proteins
Fragile X and fragile translation in flies Mutations in the fragile X mental retardation 1 (FMR1) gene underlie fragile X syndrome and fragile X–associated primary ovarian insufficiency, which are prominent intellectual disability and reproductive ...
Ethan J. Greenblatt, A. Spradling
semanticscholar +1 more source
The proceedings of the 9th International Workshop on Fragile X Syndrome and X-Linked Mental Retardation, held in Strasbourg, France, are reported from the University Hospital of Leuven, Belgium.
J Gordon Millichap
doaj +1 more source
Fragile X syndrome (FXS) is a genetic condition known to increase the risk of cognitive impairment and socio-emotional challenges in affected males and females.
Kristi L. Bartholomay+4 more
semanticscholar +1 more source
Sensory Processing Phenotypes in Fragile X Syndrome
Fragile X syndrome (FXS) is a neurodevelopmental disorder that causes intellectual disability. It is a leading known genetic cause of autism. In addition to cognitive, social, and communication deficits, humans with FXS demonstrate abnormal sensory ...
Maham Rais+3 more
semanticscholar +1 more source
From learning to memory: what flies can tell us about intellectual disability treatment.
Intellectual disability (ID), previously known as mental retardation, affects 3 % of the population and remains without pharmacological treatment. ID is characterized by impaired general mental abilities with associated defects in adaptive function in ...
Alaura eAndroschuk+2 more
doaj +1 more source
Ten years after the identification of the gene responsible for fragile X syndrome, recent studies have revealed a list of mRNAs bound by the fragile X gene product and have identified specific sequences required for the interaction between the fragile X protein and its targets.
Gantois, Ilse, Kooy, Frank
openaire +4 more sources
Of Men and Mice: Modeling the Fragile X Syndrome
The Fragile X Syndrome (FXS) is one of the most common forms of inherited intellectual disability in all human societies. Caused by the transcriptional silencing of a single gene, the fragile x mental retardation gene FMR1, FXS is characterized by a ...
Regina Dahlhaus
semanticscholar +1 more source