Neuroimaging Insight Into Fragile X-Associated Neuropsychiatric Disorders: Literature Review
Frontiers in Psychiatry, 2021 FMR1 premutation is defined by 55–200 CGG repeats in the Fragile X Mental Retardation 1 (FMR1) gene. FMR1 premutation carriers are at risk of developing a neurodegenerative disease called fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X ...
Andrea Elias-Mas +9 more
doaj +1 more source
Working memory and arithmetic impairments in children with FMR1 premutation and gray zone alleles [PDF]
Dementia & Neuropsychologia, 2022 . Expansive mutations in familial mental retardation 1 (FMR1) gene have been associated with different phenotypes. Full mutations are associated with intellectual disability and autism spectrum disorder; premutations are associated with math learning ...
Aline Aparecida Silva Martins +6 more
doaj +1 more source
Mild Neurological Signs in FMR1 Premutation Women in an Unselected Community-Based Cohort [PDF]
Movement Disorders, 2021 Marsha R Mailick +2 more
exaly +2 more sources
Metabolic Alterations in FMR1 Premutation Carriers
Frontiers in Molecular Biosciences, 2020 FMR1 gene premutation carriers are at risk of developing Fragile X-associated tremor/ataxia syndrome (FXTAS) and Fragile X-associated primary ovarian insufficiency (FXPOI) in adulthood.
Yiqu Cao +6 more
doaj +1 more source
Evaluation of the role of FMR1 CGG repeat allele in Parkinson’s disease from the Chinese population
Frontiers in Aging Neuroscience, 2023 ObjectiveThere is controversial evidence that FMR1 premutation or “gray zone” (GZ) allele (small CGG expansion, 45–54 repeats) was associated with Parkinson’s disease (PD).
Juan Chen +34 more
doaj +1 more source
Molecular Characterisation and Assessment of Clinical Significance of Small Fragile X Alleles [PDF]
Journal of Analytical Research in Clinical Medicine, 2013 BACKGROUND: Fragile X syndrome is a genetic mental retardation syndrome caused by an unstable mutation in thefragile X mental retardation 1 gene (FMR1) on the X chromosome.
Mahmoud Shekari Khaniani +1 more
doaj +1 more source
Tophaceous gout of the nose in a male FMR1 premutation carrier. [PDF]
Clin Case Rep, 2022 Premutation alleles with 55–200 CGG repeats in FMR1 can lead to fragile X‐associated tremor/ataxia syndrome (FXTAS). In this case study, we report uncontrolled gout in a 68‐year‐old male with FXTAS with multiple sites of involvement including a rare ...
Tang SJ +10 more
europepmc +2 more sources
Reproductive and Developmental Medicine, 2017 Background: The aim of this study is to investigate the prevalence of the fragile X mental retardation 1 (FMR1) gene premutation in Han Chinese women with primary ovarian insufficiency (POI) using a rapid and cost-effective method.
Qing Chen +5 more
doaj +1 more source
FMR1 alleles in women with idiopathic infertility
ABCS Health Sciences, 2022 Introduction: The frequency of the premutated alleles of the FMR1 gene varies from 1: 100 to 1: 260 Israeli, Canadian, Finnish and American women, but it is unknown in Brazil.
Mariana Mataruco Rodrigues +4 more
doaj +1 more source
STUDY OF PRIMORDIAL FOLLICLE, CORPORA LUTEA AND Fmr1 mRNA LEVELS FROM OVARIUM OF Fmr1 GENE PREMUTATION MICE [PDF]
, 2010 Background : The FMR1 gene involves in fragile X-associated disorders (FAD), including the fragile X mental retardation syndrome, primary ovarian insufficiency (POI) and Fragile X associated tremor/ataxia syndrome.
Santoso, Santoso
core +1 more source