Results 21 to 30 of about 159,005 (302)

A conserved role for the ALS-linked splicing factor SFPQ in repression of pathogenic cryptic last exons

Nature Communications, 2021
SFPQ is a splicing factor and its mutations are associated to amyotrophic lateral sclerosis (ALS) patients. Here, the authors show that SFPQ represses the use of pathogenic cryptic last exons in zebrafish, mouse and human cells.
Patricia M. Gordon, Fursham Hamid, Eugene V. Makeyev, Corinne Houart   +3 more
doaj   +1 more source

The Cerebellum and Neurodevelopmental Disorders [PDF]

The Cerebellum, 2015
Cerebellar dysfunction is evident in several developmental disorders, including autism, attention deficit hyperactivity disorder (ADHD), and developmental dyslexia, and damage to the cerebellum early in development can have long-term effects on movement, cognition, and affective regulation.
openaire   +2 more sources

Behavioural and psychological characteristics in Pitt-Hopkins syndrome: a comparison with Angelman and Cornelia de Lange syndromes

Journal of Neurodevelopmental Disorders, 2019
Background Pitt-Hopkins syndrome (PTHS) is a genetic neurodevelopmental disorder associated with intellectual disability. Although the genetic mechanisms underlying the disorder have been identified, description of its behavioural phenotype is in its ...
Alice Watkins, Stacey Bissell, Jo Moss, Chris Oliver, Jill Clayton-Smith, Lorraine Haye, Mary Heald, Alice Welham   +7 more
doaj   +1 more source

Neurodevelopmental Disorders [PDF]

, 2015
In this chapter we consider why grouping different neurodevelopmental disorders might be useful for clinical and research purposes and also discuss findings that support this clustering.
Stephan Heckers, Steven E. Hyman, Thomas Bourgeron, Bruce N. Cuthbert, Raquel E. Gur, Cynthia Joyce, Andreas Meyer-Lindenberg, Michael J. Owen, Matthew W. State   +8 more
openaire   +2 more sources

The behavioural phenotype of Potocki-Lupski syndrome: a cross-syndrome comparison

Journal of Neurodevelopmental Disorders, 2018
Background Potocki-Lupski syndrome (PTLS) and Smith-Magenis syndrome (SMS) are related genomic disorders, as duplication 17p11.2 (associated with PTLS) is the reciprocal recombination product of the SMS microdeletion.
Stacey Bissell, Lucy Wilde, Caroline Richards, Jo Moss, Chris Oliver   +4 more
doaj   +1 more source

Treatment of Neurodevelopmental Disorders in Adulthood [PDF]

The Journal of Neuroscience, 2012
Brain development in neurodevelopmental disorders has been considered to comprise a sequence of critical periods, and abnormalities occurring during early development have been considered irreversible in adulthood. However, findings in mouse models of neurodevelopmental disorders, including fragile X, Rett syndrome, Down syndrome, and neurofibromatosis
Castren, E, Elgersma, Ype, Maffei, L, Hagerman, R   +3 more
openaire   +2 more sources

An experimental study of executive function and social impairment in Cornelia de Lange syndrome

Journal of Neurodevelopmental Disorders, 2017
Background Extreme shyness and social anxiety is reported to be characteristic of adolescents and adults with Cornelia de Lange syndrome (CdLS); however, the nature of these characteristics is not well documented.
Lisa Nelson, Hayley Crawford, Donna Reid, Joanna Moss, Chris Oliver   +4 more
doaj   +1 more source

Refining the Behavioral Phenotype of Angelman Syndrome: Examining Differences in Motivation for Social Contact Between Genetic Subgroups

Frontiers in Behavioral Neuroscience, 2021
Angelman syndrome (AS) is caused by loss of information from the 15q11.2-13 region on the maternal chromosome with striking phenotypic difference from Prader–Willi syndrome in which information is lost from the same region on the paternal chromosome ...
Mary Heald, Dawn Adams, Emily Walls, Christopher Oliver   +3 more
doaj   +1 more source

The Brain Basis of Comorbidity in Neurodevelopmental Disorders [PDF]

, 2019
Purpose of Review: Research examining brain development in neurodevelopmental disorders has largely comprised small-scale studies on individual disorders.
Downs, Jenny, Leonard, Helen, Finlay-Jones, Amy, Whitehouse, Andrew JO, Spittle, Alicia J, Evans, Kiah L, Reynolds, Jess E, Alvares, Gail A, Varcin, Kandice, Licari, Melissa K   +9 more
core   +1 more source

Sleep in Neurodevelopmental Disorders [PDF]

, 2016
Individuals with intellectual and developmental disabilities (IDD) experience sleep problems at higher rates than the general population. Although individuals with IDD are a heterogeneous group, several sleep problems cluster within genetic syndromes or disorders.
Anna J, Esbensen, Amy J, Schwichtenberg
openaire   +2 more sources