Results 11 to 20 of about 4,503 (204)

Sensory Difficulties in Children With an FMR1 Premutation

Frontiers in Genetics, 2018
Abnormal sensory processing is one of the core characteristics of the fragile X phenotype. Studies of young children with fragile X syndrome (FXS) and the FMR1 premutation have shown sensory challenges as early as infancy and into early childhood.
Melissa Raspa, Amanda Wylie, Anne C. Wheeler, Jacek Kolacz, Anne Edwards, Keri Heilman, Stephen W. Porges, Stephen W. Porges   +7 more
doaj   +4 more sources

Fragile X Premutation [PDF]

Journal of Neurodevelopmental Disorders, 2014
Whereas full mutation CGG-repeat expansions (>200 repeats) of the fragile X gene (FMR1) give rise to the neurodevelopmental disorder, fragile X syndrome (FXS); smaller, 'premutation' expansions (55 to 200 repeats) are now gaining increasing ...
Hagerman, Randi J, Tassone, Flora, Hagerman, Paul J   +2 more
core   +6 more sources

Assessment of Molecular Measures in Non-FXTAS Male Premutation Carriers [PDF]

Frontiers in Genetics, 2018
Approximately 30–40% of male and 8–16% of female carriers of the Fragile X premutation will develop a neurodegenerative movement disorder characterized by intentional tremor, gait ataxia, autonomic dysfunction, cognitive decline, and Parkinsonism during ...
Reem R. Al Olaby, Hiu-Tung Tang, Blythe Durbin-Johnson, Andrea Schneider, Andrea Schneider, David Hessl, David Hessl, Susan M. Rivera, Susan M. Rivera, Flora Tassone, Flora Tassone   +10 more
doaj   +4 more sources

Developmental profiles of infants with an FMR1 premutation [PDF]

Journal of Neurodevelopmental Disorders, 2016
Background Emerging evidence suggests that a subset of FMR1 premutation carriers is at an increased risk for cognitive, emotional, and medical conditions. However, because the premutation is rarely diagnosed at birth, the early developmental trajectories
Sideris, John, Flora Tassone, Bailey, Donald B., Hagerman, Randi, Wheeler, Anne C, Tassone, Flora, Elizabeth Berry-Kravis, Anne C. Wheeler, Donald B. Bailey, Berry-Kravis, Elizabeth, John Sideris, Bailey, Donald B, Randi Hagerman, Wheeler, Anne C.   +13 more
core   +6 more sources

Altered sensitivity to social gaze in the FMR1 premutation and pragmatic language competence

Journal of Neurodevelopmental Disorders, 2017
Background The FMR1 premutation affects 1:291 women and is associated with a range of cognitive, affective, and physical health complications, including deficits in pragmatic language (i.e., social language). This study investigated attention to eye gaze
Jessica Klusek, Joseph Schmidt, Amanda J. Fairchild, Anna Porter, Jane E. Roberts   +4 more
doaj   +3 more sources

Precision Sensorimotor Control in Aging FMR1 Gene Premutation Carriers [PDF]

Frontiers in Integrative Neuroscience, 2019
BackgroundIndividuals with premutation alleles of the FMR1 gene are at risk of developing fragile X-associated tremor/ataxia syndrome (FXTAS), a neurodegenerative condition affecting sensorimotor function.
Walker S. McKinney, Zheng Wang, Shannon Kelly, Pravin Khemani, Su Lui, Stormi P. White, Matthew W. Mosconi   +6 more
doaj   +2 more sources

Automated screening for Fragile X premutation carriers based on linguistic and cognitive computational phenotypes

Scientific Reports, 2017
Millions of people globally are at high risk for neurodegenerative disorders, infertility or having children with a disability as a result of the Fragile X (FX) premutation, a genetic abnormality in FMR1 that is underdiagnosed.
Arezoo Movaghar, Marsha Mailick, Audra Sterling, Jan Greenberg, Krishanu Saha   +4 more
doaj   +2 more sources

Metabolic Alterations in FMR1 Premutation Carriers [PDF]

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, Yiqu Cao, Yun Peng, Yun Peng, Ha Eun Kong, Emily G. Allen, Peng Jin   +6 more
doaj   +3 more sources

BC RNA Mislocalization in the Fragile X Premutation [PDF]

eneuro, 2018
Fragile X premutation disorder is caused by CGG triplet repeat expansions in the 5′ untranslated region of FMR1 mRNA. The question of how expanded CGG repeats cause disease is a subject of continuing debate.
Henri Tiedge, Tiedge, H, Renate K. Hukema, Rob Willemsen, Iacoangeli, A, Wong, RKS, Muslimov, IA, Dimitre G. Stefanov, Robert K. S. Wong, Anna Iacoangeli, Chuang, SC, Eom, T, Taesun Eom, Stefanov, DG, Ilham A. Muslimov, Willemsen, Rob, Hukema, Renate, Shih-Chieh Chuang   +17 more
core   +3 more sources

Genomic studies in fragile X premutation carriers [PDF]

Journal of Neurodevelopmental Disorders, 2014
BackgroundThe FMR1 premutation is defined as having 55 to 200 CGG repeats in the 5' untranslated region of the fragile X mental retardation 1 gene (FMR1).
Lozano, Reymundo, Eichler, Evan E, Flora Tassone, Michael Duyzend, Dejan B Budimirovic, Budimirovic, Dejan B, Evan E Eichler, Reymundo Lozano, Hagerman, Randi J, Duyzend, Michael, Randi J Hagerman, Tassone, Flora   +11 more
core   +6 more sources