FMRpolyG accumulates in FMR1 premutation granulosa cells [PDF]
Journal of Ovarian Research, 2020 Background Fragile X premutation (Amplification of CGG number 55–200) is associated with increased risk for fragile X-Associated Premature Ovarian Insufficiency (FXPOI) in females and fragile X-associated tremor/ataxia syndrome (FXTAS) predominantly in ...
M. Friedman-Gohas +7 more
doaj +3 more sources
An Out‐of‐Place Etiology: Recognizing FMR1 Premutation in the Memory Clinic [PDF]
Annals of Clinical and Translational NeurologyThe FMR1 gene premutation (55–200 CGG repeats) is usually associated with a wide range of symptoms and phenotypes within the Fragile X‐tremor/ataxia syndrome (FXTAS), but may also manifest as predominant or isolated cognitive decline.
Guido Greco +7 more
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Abnormal neural sensitivity to rewards as a candidate process of high depression risk in the FMR1 premutation: A pilot study [PDF]
Journal of Mood and Anxiety DisordersThe etiological heterogeneity of depression poses a challenge for prevention and intervention efforts. One solution is to map unique etiological pathways for subgroups defined by a singular risk factor.
Roslyn Harold +8 more
doaj +4 more sources
Dysregulation of anti-Mullerian hormone expression levels in mural granulosa cells of FMR1 premutation carriers [PDF]
Scientific Reports, 2021 FMR1 premutation (55–200 CGG repeats) results in fragile X-associated primary ovarian insufficiency (FXPOI). We evaluated expression levels of folliculogenesis-related mediators, follicle-stimulating hormone (FSH) receptor and anti-Mullerian hormone (AMH)
Moran Friedman-Gohas +5 more
doaj +2 more sources
Cognitive-behavioral phenotypes in FMR1 premutation carriers: a cross-population comparison with mild cognitive impairment [PDF]
Frontiers in Molecular NeuroscienceIntroductionCarriers of the FMR1 premutation are at risk for cognitive decline, though premutation-specific markers of age-related risk are largely unknown.
Nell Maltman +8 more
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Correlation of FMR4 expression levels to ovarian reserve markers in FMR1 premutation carriers [PDF]
Journal of Ovarian ResearchBackground Fragile X-associated primary ovarian insufficiency (FXPOI), characterized by amenorrhea before age 40 years, occurs in 20% of female FMR1 premutation carriers. Presently, there are no molecular or biomarkers that can help predicting which FMR1
Ines Agusti +9 more
doaj +2 more sources
Neuropsychiatric feature-based subgrouping reveals neural sensory processing spectrum in female FMR1 premutation carriers: A pilot study [PDF]
Frontiers in Integrative Neuroscience, 2023 IntroductionFragile X Syndrome (FXS) is rare genetic condition characterized by a repeat expansion (CGG) in the Fragile X messenger ribonucleoprotein 1 (FMR1) gene where individuals with greater than 200 repeats are defined as full mutation. FXS clinical
Jordan E. Norris +11 more
doaj +2 more sources
Sensorimotor and inhibitory control in aging FMR1 premutation carriers [PDF]
Frontiers in Human Neuroscience, 2023 Aging FMR1 premutation carriers are at risk of developing neurodegenerative disorders, including fragile X-associated tremor/ataxia syndrome (FXTAS), and there is a need to identify biomarkers that can aid in identification and treatment of these ...
Heather Fielding-Gebhardt +10 more
doaj +2 more sources
Family history of FXTAS is associated with age-related cognitive-linguistic decline among mothers with the FMR1 premutation [PDF]
Journal of Neurodevelopmental Disorders, 2022 Background Women who carry a premutation allele of the FMR1 gene are at increased vulnerability to an array of age-related symptoms and disorders, including age-related decline in select cognitive skills. However, the risk factors for age-related decline
Jessica Klusek +5 more
doaj +2 more sources
Frontiers in Genetics, 2018 The FMR1 premutation is of increasing interest to the FXS community, as questions about a primary premutation phenotype warrant research attention. 100 FMR1 premutation carrier mothers (mean age = 58; 67–138 CGG repeats) of adults with fragile X syndrome
Marsha R Mailick +2 more
exaly +3 more sources