Results 71 to 80 of about 5,127 (199)

Abnormal neural sensitivity to rewards as a candidate process of high depression risk in the FMR1 premutation: A pilot study

Journal of Mood and Anxiety Disorders
The 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, Bridgette Kelleher, Keisha Novak, Wei Siong Neo, Teagan Stump, Taylor Lee, Tessa Garwood, Elizabeth Berry-Kravis, Dan Foti   +8 more
doaj   +1 more source

The Impact of Fragile X Syndrome on Caregivers: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 9, Page 945-961, September 2026.
ABSTRACT Background The effects of fragile X syndrome (FXS) reach beyond the individual with the condition, profoundly influencing the well‐being of caregivers and family members. The aim of this review is to synthesise current evidence on the effects of FXS on caregivers, investigate contributors to their burden and identify gaps for future research ...
Katerina Poprelka, Konstantina Stavrogianni, Panagiota‐Eleni Tsalouchidou, Maria Stefanatou, Anastasia Verentzioti, Athanasia Alexoudi, Anastasios Bonakis, Stylianos Gatzonis   +7 more
wiley   +1 more source

Magnetic resonance imaging study in older fragile X premutation male carriers

, 2015
Some carriers of a "premutation" allele of the FMR1 gene develop late-onset tremor/ataxia. We conducted a magnetic resonance imaging volumetric study in an unselected sample of eight older male premutation carriers.
Brotchie, Peter, Cook, Mark, Litewka, Lucas, Loesch, Danuta Z, Huggins, Richard, Tassone, Flora   +5 more
core   +1 more source

Broad clinical involvement in a family affected by the fragile X premutation [PDF]

, 2009
The mutations in the FMR1 gene have been described as a family of disorders called fragile X-associated disorders including fragile X syndrome, fragile X-associated tremor/ataxia syndrome, primary ovarian insufficiency, and other problems associated with
Randi J. Hagerman, Agustini Utari, Flora Tassone, Chonchaiya, W, Utari, A, Tassone, F, Pereira, GM, David Hessl, Hagerman, RJ, Hessl, D, Gabriela Marques Pereira, Weerasak Chonchaiya   +11 more
core   +1 more source

Neuropathic features in fragile X premutation carriers [PDF]

American Journal of Medical Genetics Part A, 2006
AbstractFragile X‐associated tremor/ataxia syndrome (FXTAS) is a progressive neurological condition occurring in fragile X premutation carriers, predominantly males, and resulting in CNS dysfunction including tremor, ataxia, Parkinsonism, and cognitive decline. Neuropathic signs have also been described.
Elizabeth, Berry-Kravis, Christopher G, Goetz, Maureen A, Leehey, Randi J, Hagerman, Lin, Zhang, Lexin, Li, Danh, Nguyen, Deborah A, Hall, Nicole, Tartaglia, Jennifer, Cogswell, Flora, Tassone, Paul J, Hagerman   +11 more
openaire   +2 more sources

Static and dynamic postural control deficits in aging fragile X mental retardation 1 (FMR1) gene premutation carriers

Journal of Neurodevelopmental Disorders, 2019
Background Individuals with premutation alleles of the fragile X mental retardation 1 (FMR1) gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS) during aging.
Zheng Wang, Pravin Khemani, Lauren M. Schmitt, Su Lui, Matthew W. Mosconi   +4 more
doaj   +1 more source

Genome‐Wide Association Study in European Beech (Fagus sylvatica L.) for Drought Stress Related Traits

Physiologia Plantarum, Volume 178, Issue 5, September/October 2026.
ABSTRACT Genome‐wide association studies (GWAS) aim to identify loci associated with different traits, which could be evaluated in subsequent studies and later be prioritized in individual and seed stand selection. In trees, traits are measured at maturity or are only available after a long time, and juvenile‐mature correlations are often unknown ...
Mila Tost, Ourania Grigoriadou‐Zormpa, Selina Wilhelmi, Timothy Beissinger, Mehdi Ben Targem, Markus Müller, Henning Wildhagen, Alexandru Lucian Curtu, Oliver Gailing   +8 more
wiley   +1 more source

FXPOI: Pattern of AGG Interruptions Does not Show an Association With Age at Amenorrhea Among Women With a Premutation

Frontiers in Genetics, 2018
Fragile X-associated primary ovarian insufficiency (FXPOI) occurs in about 20% of women who carry a premutation allele (55–200 CGG repeats). These women develop hypergonadotropic hypogonadism and have secondary amenorrhea before age 40.
Emily G. Allen, Anne Glicksman, Nicole Tortora, Krista Charen, Weiya He, Ashima Amin, Heather Hipp, Lisa Shubeck, Sarah L. Nolin, Stephanie L. Sherman   +9 more
doaj   +1 more source

Functional Recovery in Refractory Lower‐Limb Complex Regional Pain Syndrome Following KAFO‐Assisted Rehabilitation: A Longitudinal Case Report

Clinical Case Reports, Volume 14, Issue 8, August 2026.
Overview of the clinical course, KAFO‐assisted rehabilitation, and functional outcomes in refractory lower‐limb CRPS. ABSTRACT To describe the longitudinal functional recovery of a patient with refractory lower‐limb complex regional pain syndrome (CRPS), a disabling condition associated with pain and motor dysfunction, following individualized KAFO ...
Humberto Marreiros
wiley   +1 more source

Autonomic Function in Fragile X Syndrome: A Systematic Review

Journal of Intellectual Disability Research, Volume 70, Issue 8, Page 773-787, August 2026.
ABSTRACT Background Fragile X syndrome (FXS) is a monogenic X‐linked cause of intellectual disability and autism. Individuals with FXS often have high levels of anxiety and sometimes display challenging behaviours. Autonomic dysfunction has been suggested to be one physiological mechanism that may contribute to these.
Sydni Weissgold, Sarah E. A. Eley, Damien Wright, Andrew G. McKechanie, Andrew C. Stanfield   +4 more
wiley   +1 more source