Results 91 to 100 of about 206,873 (358)
American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, EarlyView.ABSTRACT Women with the FMR1 premutation (FXpm) are at heightened genetic vulnerability for depression, with risk compounded by the stressors of parenting a disabled child. Although risk factors persist as FXpm women age, depression in FXpm mothers during midlife and old age is poorly characterized. This study used an accelerated longitudinal design to
Jessica Klusek +8 more
wiley +1 more source
Plasma Biomarkers for Monitoring Brain Pathophysiology in FMR1 Premutation Carriers. [PDF]
, 2016 Premutation carriers have a 55-200 CGG expansion in the fragile X mental retardation 1 (FMR1) gene. Currently, 1.5 million individuals are affected in the United States, and carriers are at risk of developing the late-onset neurodegenerative disorder ...
Giulivi, Cecilia +4 more
core +2 more sources
Annals of Neurology, EarlyView.Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl +6 more
wiley +1 more source
Metacarpophalangeal pattern profile analysis in fragile X syndrome [PDF]
, 1988 We analyzed the metacarpophalangeal pattern profile (MCPP) on 18 male individuals from 16 families with fragile X—fra (X), or Martin-Bell—syndrome and calculated a mean syndrome profile.
Butler, M. G +8 more
core +1 more source
The Epigenetics of Fragile X Syndrome [PDF]
Cell Stem Cell, 2007 In this issue of Cell Stem Cell, Eiges et al. (2007) generate a human ES cell line from an embryo identified by preimplantation genetic diagnosis, and shed light on the molecular pathology of fragile X syndrome. The discovery that, upon differentiation, epigenetic modifications likely trigger silencing of the FMR1 gene sets the stage for further ...
openaire +3 more sources
Angewandte Chemie International Edition, Accepted Article.Glycerophospholipids (GPLs) play important roles in cellular compartmentalization and signaling. Among them, phosphatidic acids (PA) exist as many distinct species depending on acyl chain composition, each one potentially displaying unique signaling function.
Antoine Schlichter +29 more
wiley +1 more source
Fragile X syndrome: clinical and cytogenetic studies [PDF]
Arquivos de Neuro-Psiquiatria, 1998 Three families with the fragile X syndrome were studied with the aim to establish the most frequent clinical signs in the affected individuals and heterozygous women.
TÊMIS MARIA FÉLIX +1 more
doaj +1 more source
Metformin treatment in young children with fragile X syndrome
Molecular Genetics & Genomic Medicine, 2019 Metformin is a drug commonly used in individuals with type 2 diabetes, obesity, and impaired glucose tolerance. It has a strong safety profile in both children and adults.
H. Biag +11 more
semanticscholar +1 more source
Autism Research, EarlyView.ABSTRACT Challenges in daily living skills (DLS) are well‐documented in autism and other developmental conditions. Research has also cataloged challenges in adult outcome attainment among autistic individuals and those with other developmental conditions; stronger DLS are associated with a higher likelihood of attaining some adult outcomes. Little work
Elaine B. Clarke, Catherine Lord
wiley +1 more source
Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
Journal of Neurodevelopmental Disorders, 2017 Fragile X syndrome (FXS) has been the neurodevelopmental disorder with the most active translation of preclinical breakthroughs into clinical trials. This process has led to a critical assessment of outcome measures, which resulted in a comprehensive ...
D. Budimirovic +8 more
semanticscholar +1 more source