Fragile X syndrome in children [PDF]
Colombia Medica, 2023 Fragile X syndrome is caused by the expansion of CGG triplets in the FMR1 gene, which generates epigenetic changes that silence its expression. The absence of the protein coded by this gene, FMRP, causes cellular dysfunction, leading to impaired brain development and functional abnormalities.
David O. Acero-Garcés +4 more
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Impaired perceptual learning in a mouse model of Fragile X syndrome is mediated by parvalbumin neuron dysfunction and is reversible. [PDF]
, 2018 To uncover the circuit-level alterations that underlie atypical sensory processing associated with autism, we adopted a symptom-to-circuit approach in the Fmr1-knockout (Fmr1-/-) mouse model of Fragile X syndrome.
A Contractor +53 more
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Biological Psychiatry, 1995 Fragile X syndrome is the most important X-linked etiology of mental retardation and developmental disability currently known. Accumulating evidence also indicates that male and female carriers of the fragile X genetic abnormality demonstrate a relatively specific pattern of psychiatric disturbance.
Allan L. Reiss, L Freund
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A phenotypic and molecular characterization of the fmr1-tm1Cgr Fragile X mouse [PDF]
, 2004 Fragile X Syndrome is the most common form of\ud inherited mental retardation. It is also known for having\ud a substantial behavioral morbidity, including autistic features. In humans, Fragile X Syndrome is almost always\ud caused by inactivation of the
Bauchwitz, Dr. Robert P.
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Manifestaciones neurológicas en el adulto con premutación X frágil [PDF]
, 2010 Introduction: Fragile X syndrome is an inherited form of mental retardation. It results from an abnormally expanded number of trinucleotide CGG repeats.
Cabanyes-Truffin, J. (J.)
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Experimental approaches towards therapeutic interventions for fragile X syndrome [PDF]
, 2010 Fragile X syndrome (FXS) is one of the most common inherited forms of intellectual disability. It affects on average 1/4000 males and 1/7000 females. FXS was described for the first time in 1943 by Martin and Bell.
Levenga, G.J. (Josien)
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Cognitive and behavioral heterogeneity in genetic syndromes [PDF]
, 2014 Objectivethis study aimed to investigate the cognitive and behavioral profiles, as well as the psychiatric symptoms and disorders in children with three different genetic syndromes with similar sociocultural and socioeconomic backgrounds.Methodsthirty ...
Banzato, Claudio E.M. +4 more
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Pharmacological Rescue of Synaptic Plasticity, Courtship Behavior, and Mushroom Body Defects in a Drosophila Model of Fragile X Syndrome [PDF]
, 2005 SummaryFragile X syndrome is a leading heritable cause of mental retardation that results from the loss of FMR1 gene function. A Drosophila model for Fragile X syndrome, based on the loss of dfmr1 activity, exhibits phenotypes that bear similarity to ...
Ackerman +55 more
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Narrative language competence in children and adolescents with Down syndrome [PDF]
, 2015 This study was designed to examine the narrative language abilities of children and adolescents with Down syndrome in comparison to same-age peers with fragile X syndrome and younger typically developing children matched by nonverbal cognitive ability ...
Andrea S McDuffie +4 more
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Rapidly Progressing Neurocognitive Disorder in a Male with FXTAS and Alzheimer's Disease. [PDF]
, 2020 Fragile X-associated tremor/ataxia syndrome (FXTAS) is a neurodegenerative disorder that usually begins in the early 60s and affects carriers of premutation expansion (55-200 CGG repeats) of the fragile X mental retardation 1 (FMR1) gene.
Aydin, Elber Yuksel +8 more
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