Updated report on tools to measure outcomes of clinical trials in fragile X syndrome
DB Budimirovic, E Berry-Kravis, CA Erickson… - Journal of …, 2017 - Springer
Abstract Objective Fragile X syndrome (FXS) has been the neurodevelopmental disorder
with the most active translation of preclinical breakthroughs into clinical trials. This process …
with the most active translation of preclinical breakthroughs into clinical trials. This process …
Intelligence and specific cognitive functions in intellectual disability: implications for assessment and classification
MO Bertelli, SA Cooper… - Current Opinion in …, 2018 - journals.lww.com
The current model of intelligence, based on IQ, is of limited utility for intellectual disability,
given the wide range and variability of cognitive functions and adaptive capacities …
given the wide range and variability of cognitive functions and adaptive capacities …
[图书][B] Textbook of clinical neuropsychology
JE Morgan, JH Ricker - 2016 - taylorfrancis.com
Containing 50 chapters by some of the most prominent clinical neuropsychologists, the
Textbook of Clinical Neuropsychology sets a new standard in the field in its scope, breadth …
Textbook of Clinical Neuropsychology sets a new standard in the field in its scope, breadth …
Outcome measures for clinical trials in fragile X syndrome
E Berry-Kravis, D Hessl, L Abbeduto… - … of Developmental & …, 2013 - journals.lww.com
Objective: Progress in basic neuroscience has led to identification of molecular targets for
treatment in fragile X syndrome (FXS) and other neurodevelopmental disorders; however …
treatment in fragile X syndrome (FXS) and other neurodevelopmental disorders; however …
The fragile X mutation impairs homeostatic plasticity in human neurons by blocking synaptic retinoic acid signaling
Fragile X syndrome (FXS) is an X chromosome–linked disease leading to severe intellectual
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …
disabilities. FXS is caused by inactivation of the fragile X mental retardation 1 (FMR1) gene …
The 7q11. 23 protein DNAJC30 interacts with ATP synthase and links mitochondria to brain development
ATN Tebbenkamp, L Varela, J Choi, MI Paredes… - Cell, 2018 - cell.com
Despite the known causality of copy-number variations (CNVs) to human
neurodevelopmental disorders, the mechanisms behind each gene's contribution to the …
neurodevelopmental disorders, the mechanisms behind each gene's contribution to the …
Urinary incontinence in children with special needs
A Von Gontard - Nature Reviews Urology, 2013 - nature.com
Nocturnal enuresis, daytime urinary incontinence, lower urinary tract symptoms and faecal
incontinence are more common in children with special needs than in typically developing …
incontinence are more common in children with special needs than in typically developing …
Estimating individual contribution from group-based structural correlation networks
Coordinated variations in brain morphology (eg, cortical thickness) across individuals have
been widely used to infer large-scale population brain networks. These structural correlation …
been widely used to infer large-scale population brain networks. These structural correlation …
An observational study of social interaction skills and behaviors in Cornelia de Lange, fragile X and Rubinstein-Taybi syndromes
We directly assessed the broader aspects of sociability (social enjoyment, social motivation,
social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS) …
social interaction skills and social discomfort) in individuals with Cornelia de Lange (CdLS) …
Social brain development in Williams syndrome: The current status and directions for future research
Williams syndrome (WS) is a neurodevelopmental condition that occurs as a result of a
contiguous deletion of∼ 26–28 genes on chromosome 7q11. 23. WS is often associated …
contiguous deletion of∼ 26–28 genes on chromosome 7q11. 23. WS is often associated …