Results 11 to 20 of about 7,199,374 (204)

Progress toward therapeutic potential for AFQ056 in Fragile X syndrome

Journal of Experimental Pharmacology, 2013
Mary Sourial, Connie Cheng, Laurie C Doering Department of Pathology and Molecular Medicine, McMaster University, Hamilton, Ontario, Canada Abstract: Fragile X syndrome (FXS) is the most common form of inherited intellectual disability and the leading ...
Sourial M, Cheng C, Doering LC
doaj   +1 more source

Working memory subsystems and task complexity in young boys with Fragile X syndrome: Working memory in boys with FXS [PDF]

, 2011
Working memory problems have been targeted as core deficits in individuals with Fragile X syndrome (FXS); however, there have been few studies that have examined working memory in young boys with FXS, and even fewer studies that have studied the working memory performance of young boys with FXS across different degrees of complexity.
Bailey, D., Baker, S., Skinner, M., Hooper, S., Ornstein, P., Schaaf, J., Hatton, D.   +6 more
openaire   +2 more sources

Fragile X Syndrome: Recent Research Updates toward Capturing Treatments’ Improvement in Clinical Trials

Brain Sciences, 2022
This Brain Sciences 2020 Special Issue of nine manuscripts contribute novel data on treatment updates in fragile X syndrome (FXS) [...]
Dejan B. Budimirovic, Dragana D. Protic
doaj   +2 more sources

Event-related potential alterations in fragile X syndrome

Frontiers in Human Neuroscience, 2012
Fragile X Syndrome (FXS) is the most common form of X-linked intellectual disability, associated with a wide range of cognitive and behavioural impairments.
Inga Sophia eKnoth, Inga Sophia eKnoth, Sarah eLippe, Sarah eLippe   +3 more
doaj   +2 more sources

The Contribution of Pluripotent Stem Cell (PSC)-Based Models to the Study of Fragile X Syndrome (FXS). [PDF]

Brain Sci, 2019
Fragile X syndrome (FXS) is the most common heritable form of cognitive impairment. It results from a deficiency in the fragile X mental retardation protein (FMRP) due to a CGG repeat expansion in the 5′-UTR of the X-linked FMR1 gene. When CGGs expand beyond 200 copies, they lead to epigenetic gene silencing of the gene.
Abu Diab M, Eiges R.
europepmc   +5 more sources

A randomized, controlled trial of ZYN002 cannabidiol transdermal gel in children and adolescents with fragile X syndrome (CONNECT-FX) [PDF]

Journal of Neurodevelopmental Disorders, 2022
Abstract Background Fragile X syndrome (FXS) is associated with dysregulated endocannabinoid signaling and may therefore respond to cannabidiol therapy. Design CONNECT-FX was a double-blind, randomized phase 3 trial assessing efficacy and safety of ZYN002, transdermal ...
Berry-Kravis, Elizabeth, Hagerman, Randi, Budimirovic, Dejan, Erickson, Craig, Heussler, Helen, Tartaglia, Nicole, Cohen, Jonathan, Tassone, Flora, Dobbins, Thomas, Merikle, Elizabeth, Sebree, Terri, Tich, Nancy, Palumbo, Joseph M, O'Quinn, Stephen   +13 more
openaire   +8 more sources

Novel p.Arg534del Mutation and MTHFR C667T Polymorphism in Fragile X Syndrome (FXS) With Autism Spectrum Phenotype: A Case Report. [PDF]

Case Rep Genet
Fragile X syndrome (FXS) presents with autism spectrum disorder (ASD), intellectual disability, developmental delay, seizures, hypotonia during infancy, joint laxity, behavioral issues, and characteristic facial features. The predominant mechanism is due to CGG trinucleotide repeat expansion of more than 200 repeats in the 5′UTR ...
Hasan H, Santos ER, Amrei SAM, Tassone F, Randol JL, Hagerman P, Hagerman RJ.   +6 more
europepmc   +6 more sources

Closing the Gender Gap in Fragile X Syndrome: Review of Females with Fragile X Syndrome and Preliminary Research Findings [PDF]

Brain Sciences, 2019
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. To date, the vast majority of research on FXS has predominantly targeted males, who usually exhibit greater cognitive impairment compared to females.
Kristi Bartholomay, Cindy Lee, Jennifer Bruno, Amy Lightbody, Allan Reiss   +4 more
openaire   +3 more sources

An indirect examination of the function of problem behaviour associated with Fragile X Syndrome and Smith-Magenis Syndrome [PDF]

, 2011
Fragile X syndrome (FXS) and Smith-Magenis syndrome (SMS) are associated with a number of specific topographies of problem behavior. Very few studies have examined the function served by problem behavior in these groups.
Peter McGill, Paul Langthorne, McGill, Peter, Langthorne, Paul   +3 more
core   +1 more source

Feasibility, reliability, and clinical validity of the Test of Attentional Performance for Children (KiTAP) in Fragile X syndrome (FXS) [PDF]

Journal of Neurodevelopmental Disorders, 2012
AbstractBackgroundAttention and inhibition are core executive-function deficits in FRagile X syndrome (FXS). This pilot study evaluated the feasibility, reproducibility, and clinical relevance of the KiTAP, a computer-based pictorial measure of attention and inhibition with an enchanted-castle theme, in an FXS cohort.MethodsThe 8-subtest KiTAP battery (
Knox, Andrew, Schneider, Andrea, Abucayan, Floridette, Hervey, Crystal, Tran, Christina, Hessl, David, Berry-Kravis, Elizabeth   +6 more
openaire   +5 more sources