Results 81 to 90 of about 7,199,374 (204)

Defective memory engram reactivation underlies impaired fear memory recall in Fragile X syndrome.

, 2020
Fragile X syndrome (FXS) is an X chromosome-linked disease associated with severe intellectual disabilities.
Zhai, Sophia R, Arendt, Kristin L, Li, Jie, Jiang, Rena Y, Chen, Lu, Hsu, Yu-Tien   +5 more
core   +1 more source

Learning Potential is Useful in Pre-schoolers with Fragile X and Down Syndrome

Psicología Educativa: Revista de los Psicólogos de la Educación, 2018
This paper examines the performance of both Down syndrome (DS) and Fragile X syndrome (FXS) pre-schoolers in cognitive tasks of nonverbal reasoning and short-term memory (visual and auditory) and the ability to stimulate cognitive functions with a ...
Mª Auxiliadora Robles-Bello, Nieves Valencia-Naranjo, David Sánchez-Teruel   +2 more
doaj   +1 more source

Relationship Between Neurologic Symptoms and Signs and FMR1 Genotype in Premutation Carriers

Annals of Clinical and Translational Neurology, Volume 13, Issue 10, Page 2068-2077, October 2026.
ABSTRACT Background and Objectives Fragile X‐associated Tremor/Ataxia Syndrome (FXTAS) is the most severe late‐onset condition caused by a premutation in the FMR1 gene, characterized by expanded CGG triplet repeats of 55–200. Clinical presentations of FXTAS, including gait ataxia, kinetic tremor, cognitive decline, and rare Parkinsonism, are linked to ...
Flora Tassone, Freddy Chafota, Miguel E. Rentería, Randi J. Hagerman, Ellery Santos, Anna Atkinson, Nicholas G. Martin, Elsdon Storey, Danuta Z. Loesch   +8 more
wiley   +1 more source

Epigenetic insights into Fragile X Syndrome

Frontiers in Cell and Developmental Biology
Fragile X Syndrome (FXS) is a genetic neurodevelopmental disorder closely associated with intellectual disability and autism spectrum disorders. The core of the disease lies in the abnormal expansion of the CGG trinucleotide repeat sequence at the 5′end ...
Liangqun Xie, Liangqun Xie, Huiying Li, MengLiang Xiao, Ningjing Chen, Xiaoxiao Zang, Yingying Liu, Hong Ye, Chaogang Tang   +8 more
doaj   +1 more source

Impaired GABA Neural Circuits Are Critical for Fragile X Syndrome

Neural Plasticity, 2018
Fragile X syndrome (FXS) is an inheritable neuropsychological disease caused by silence of the fmr1 gene and the deficiency of Fragile X mental retardation protein (FMRP).
Fei Gao, Lijun Qi, Zhongzhen Yang, Tao Yang, Yan Zhang, Hui Xu, Huan Zhao   +6 more
doaj   +1 more source

Clinical Development of Targeted Fragile X Syndrome Treatments: An Industry Perspective

Brain Sciences, 2018
Fragile X syndrome (FXS) is the leading known cause of inherited intellectual disability and autism spectrum disorder. It is caused by a mutation of the fragile X mental retardation 1 (FMR1) gene, resulting in a deficit of fragile X mental retardation ...
Anna W. Lee, Pamela Ventola, Dejan Budimirovic, Elizabeth Berry-Kravis, Jeannie Visootsak   +4 more
doaj   +1 more source

Interaction of FXTAS Family History and College Degree Attainment Predicts Trajectories of Cognitive and Motor Symptoms in FMR1 Premutation Carrier Women

American Journal of Medical Genetics Part B: Neuropsychiatric Genetics, Volume 201, Issue 7, Page 451-463, October 2026.
ABSTRACT The present longitudinal study focuses on FMR1 premutation carrier women during midlife and early old age (n = 115). Bringing together the genetic risk factor of a family history of FXTAS and the environmental protective factor of higher education, the goal of the study was to determine how these factors potentially interact to predict self ...
Jinkuk Hong, Leann Smith DaWalt, Jessica Klusek, Elizabeth M. Berry‐Kravis, Marsha Mailick   +4 more
wiley   +1 more source

Reversion of FMR1 Methylation and Silencing by Editing the Triplet Repeats in Fragile X iPSC-Derived Neurons

Cell Reports, 2015
Fragile X syndrome (FXS) is the most common form of inherited intellectual disability, resulting from a CGG repeat expansion in the fragile X mental retardation 1 (FMR1) gene.
Chul-Yong Park, Tomer Halevy, Dongjin R. Lee, Jin Jea Sung, Jae Souk Lee, Ofra Yanuka, Nissim Benvenisty, Dong-Wook Kim   +7 more
doaj   +1 more source

Developmental stuttering with common and complex phenotypes

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1460-1475, October 2026.
Abstract Aim To describe the phenotypic spectrum associated with stuttering. Method Individuals with current or resolved developmental stuttering self‐referred. Surveys assessed stuttering characteristics (onset, negative impact, family history) and health (early development, other conditions).
Sarah E. Horton, Daisy A. Shepherd, Stephanie Siemers, Miya St John, Juliette Catherall, Ingrid E. Scheffer, Angela T. Morgan   +6 more
wiley   +1 more source

Involvement in daily life activities from the perspectives of children and young people with childhood‐onset disabilities: A scoping review

Developmental Medicine &Child Neurology, Volume 68, Issue 10, Page 1351-1364, October 2026.
This scoping review aimed to understand the construct ‘involvement’ in daily life activities from the perspective of children and young people with childhood‐onset disabilities. We identified six conceptual ideas, including a continuum of inner dedication or investment in‐the‐moment, and five others reflecting how children and young people process ...
Vera C Kaelin, Kinga Quaaden, Helena Lindgren, Mats Granlund, Christine Imms   +4 more
wiley   +1 more source