Results 41 to 50 of about 103,930 (219)

Longitudinal Analysis of Neuroradiological Biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome and Implications for Clinical Trials

Annals of Neurology, EarlyView.
Objective The objective of this study was to show the capacity of structural brain magnetic resonance imaging (MRI) measures to serve as monitoring biomarkers for Fragile X‐Associated Tremor/Ataxia Syndrome (FXTAS). Methods From 2 longitudinal studies of male FMR1 premutation carriers, 2 brain MRI scans were selected from each participant, collected ...
David Hessl, Jun Yi Wang, Glenda Espinal, Ellery Santos, Flora Tassone, Randi J. Hagerman, Susan M. Rivera   +6 more
wiley   +1 more source

Therapeutic Targets and Translational Endpoints in Fragile X Syndrome [PDF]

, 2014
__Abstract__ Fragile X syndrome is the most common inherited cause of intellectual disability. It is more common in boys (1 in 4000) than girls (1 in 6000).
Esch, C.E.F. (Celine) de
core  

Towards the convergent therapeutic potential of G protein‐coupled receptors in autism spectrum disorders

British Journal of Pharmacology, EarlyView., 2023
Abstract Autism spectrum disorders (ASDs) are diagnosed in 1/100 children worldwide, based on two core symptoms: deficits in social interaction and communication, and stereotyped behaviours. G protein‐coupled receptors (GPCRs) are the largest family of cell‐surface receptors that transduce extracellular signals to convergent intracellular signalling ...
Anil Annamneedi, Caroline Gora, Ana Dudas, Xavier Leray, Véronique Bozon, Pascale Crépieux, Lucie P. Pellissier   +6 more
wiley   +1 more source

Offering fragile X syndrome carrier screening: a prospective mixed-methods observational study comparing carrier screening of pregnant and non-pregnant women in the general population [PDF]

, 2013
Article focus▪ This article is a protocol of a study that involves offering fragile X syndrome carrier screening to pregnant and non-pregnant women in the general population.
Anderson, V., Archibald, A., Carter, R., Cohen, J., Delatycki, M., Donath, S., Emery, J., Halliday, J., Hill, M., Martyn, M., Metcalfe, S., Sheffield, L., Slater, H., Tassone, F., Younie, S.   +14 more
core   +1 more source

Clinical checklists in the selection of mentally retarded males for molecular screening of fragile X syndrome [PDF]

, 2007
Fragile X syndrome is the most frequent cause of inherited mental retardation. The phenotype in this syndrome is quite variable and less conspicuous in younger patients, making clinical diagnosis difficult and thus making molecular diagnosis necessary ...
Belangero, Sintia Iole, Bellucco, Fernanda Teixeira da Silva, Brunoni, Decio, Christofolini, Denise Maria, Costa, Silvia S., Kulikowski, Leslie Domenici, Lipay, Monica Vanucci Nunes, Melaragno, Maria Isabel, Ramos, Marco Antonio P.   +8 more
core   +3 more sources

Wearable Biomonitoring with 2D Carbon‐Based Nanocomposite Hydrogels

Advanced Physics Research, EarlyView.
This review critically examines recent advancements in nanocomposite hydrogels, emphasizing the reinforcement mechanisms offered by 2D carbon‐based nanomaterials and exploring the various applications of these hydrogels. Furthermore, it discusses the current challenges and potential avenues for future development and practical implementation of ...
Ning Li, Xiao Xiao, Yu Li, Ruobing Cheng, Junyi Yin, Hulin Zhang, Jun Chen   +6 more
wiley   +1 more source

Modulation of the GABAergic pathway for the treatment of fragile X syndrome. [PDF]

, 2014
Fragile X syndrome (FXS) is the most common genetic cause of intellectual disability and the most common single-gene cause of autism. It is caused by mutations on the fragile X mental retardation gene (FMR1) and lack of fragile X mental retardation ...
Hagerman, Randi J, Hare, Emma B, Lozano, Reymundo   +2 more
core   +1 more source

Identifying Daily Living Skills From Childhood and Adolescence Predictive of Adult Outcomes in a Longitudinal Study of Autism and Related Developmental Conditions

Autism Research, EarlyView.
ABSTRACT Challenges in daily living skills (DLS) are well‐documented in autism and other developmental conditions. Research has also cataloged challenges in adult outcome attainment among autistic individuals and those with other developmental conditions; stronger DLS are associated with a higher likelihood of attaining some adult outcomes. Little work
Elaine B. Clarke, Catherine Lord
wiley   +1 more source

Fragile X Syndrome: Steps towards Therapy [PDF]

, 2013
In a continuously developing society we are still confronted with intellectual disability (ID) and autism around us with quite a high prevalence. 1 in 88 children is diagnosed with autism spectrum disorder (ASD), while 2-3% of the general population is
Pop, A.S. (Andreea)
core  

Neural progenitor cells from an adult patient with fragile X syndrome [PDF]

, 2005
BACKGROUND: Currently, there is no adequate animal model to study the detailed molecular biochemistry of fragile X syndrome, the leading heritable form of mental impairment.
A McLaren, AJ Verkerk, AL Vescovi, AL Vescovi, AM Peier, B Bardoni, BA Reynolds, Boback Ziaeian, C Dobkin, Claudia M Greco, CN Svendsen, Consortium The Dutch-Belgian Fragile X, D Gershon, DW Pincus, F Tassone, F Tassone, FH Gage, Flora Tassone, Hubert E Nethercott, I Oberlé, J Morales, LN Antar, LS Shihabuddin, M Antoniou, M Pieretti, M Shatos, N Uchida, Paul J Hagerman, PH Schwartz, Philip H Schwartz, Q Liu, Randi J Hagerman, RF Kooy, RJ Hagerman, RJ Hagerman, S Tamaki, S Temple, TD Palmer, VG Kukekov, YH Fu   +39 more
core   +3 more sources