fragile X syndromeintellectual disabilityFragile X syndrome (FXS) is the most common identifiable cause of inherited intellectual disability and autism spectrum conditions, and is associated with a range of phy
Fragile X syndromeaffects 1 in 1500 of the population and is, after Down syndrome, the second most common chromosomal defect associated with learning impairment.Fragile X syndromeis so named because the tip of theX chromosomeis susceptible to breakage. Fragile X syndrome is a sex-linked dominantt...
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Overview: Fragile X syndrome.doi:10.1002/mrdd.1410010402Donald B. BaileyDavid NelsonWileyDevelopmental Disabilities Research Reviews
A fascinating overview of the biology of fragile X syndromedoi:10.1038/s41431-018-0241-0Martin HergersbergPubmedEuropean Journal of Human Genetics
Mila M, Alvarez-Mora MI, Madrigal I, Rodriguez-Revenga L. Fragile X syndrome: An overview and update of the FMR1 gene. Clinical genetics. 2018 Feb:93(2):197-205. doi: 10.1111/cge.13075. Epub 2017 Oct 1[PubMed PMID: 28617938] ...
Fragile X syndrome (FXS) is the leading inherited form of intellectual disability and autism spectrum disorder, and patients can present with severe behavioural alterations, including hyperactivity, impulsivity and anxiety, in addition to poor language development and seizures. FXS is a trinucleotide repe...
Pop AS, Gomez-Mancilla B, Neri G, Willemsen R, Gasparini F: Fragile X syndrome: a preclinical review on metabotropic glutamate receptor 5 (mGluR5) antagonists and drug development. Psychopharmacology (Berl) in pressPop AS, Gomez-Mancilla B, Neri G, Willemsen, Gasparini F. Fragile X ...
npj | metabolic health and disease Article https://doi.org/10.1038/s44324-024-00004-7 PGC-1α integrates insulin signaling with mitochondrial physiology and behavior in a Drosophila model of Fragile X Syndrome Eliana D. Weisz1,2, Adam R. Fenton1 & Thomas A. Jongens1,2 Check for updates ...
Fragile X-associated disorders: a clinical overview. J Neurol. 2012;259:401–413. Article CAS Google Scholar Hunter J, Rivero-Arias O, Angelov A, Kim E, Fotheringham I, Leal J. Epidemiology of fragile X syndrome: a systematic review and meta-analysis. Am J Med Genet. 2014;164A:1648...