Results 11 to 20 of about 244,000 (312)

Assessing the requirements of prenatal UBE3A expression for rescue of behavioral phenotypes in a mouse model for Angelman syndrome

Molecular Autism, 2020
Background Angelman syndrome (AS) is a rare neurodevelopmental disorder caused by the loss of functional ubiquitin protein ligase E3A (UBE3A). In neurons, UBE3A expression is tightly regulated by a mechanism of imprinting which suppresses the expression ...
Monica Sonzogni, Peipei Zhai, Edwin J. Mientjes, Geeske M. van Woerden, Ype Elgersma   +4 more
doaj   +1 more source

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

Visual illusions: An interesting tool to investigate developmental dyslexia and autism spectrum disorder [PDF]

, 2016
A visual illusion refers to a percept that is different in some aspect from the physical stimulus. Illusions are a powerful non-invasive tool for understanding the neurobiology of vision, telling us, indirectly, how the brain processes visual stimuli ...
Facoetti, Andrea, Gori, Simone, Molteni, Massimo   +2 more
core   +1 more source

Perinatal insults and neurodevelopmental disorders may impact Huntington's disease age of diagnosis [PDF]

, 2018
Introduction: The age of diagnosis of Huntington's disease (HD) varies among individuals with the same HTT CAG-repeat expansion size. We investigated whether early-life events, like perinatal insults or neurodevelopmental disorders, influence the ...
Anderson, Dg, Barkhuizen, M, Ferraldeschi, M, Gavilanes, Awd., Kramer, Bw, REGISTRY Investigators of the European Huntington's Disease, Network, Ristori, G, Rodrigues, Fb, Romano, S, Wild, Ej, Winkens, B   +10 more
core   +1 more source

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

Specific learning disorders/neurodevelopmental disorders [PDF]

Developmental Medicine & Child Neurology, 1999
No area of developmental neurology is more complex than the specific learning disorders (SLD): the terminology is a morass; the epidemiology, in consequence, is extremely difficult; diagnosis is a problem due to changing symptomatology with age (3-year-olds can't be dyslexic or can they?); the extent to which investigations are initiated is financially
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

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

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

Translational genetic modelling of 3D craniofacial dysmorphology: elaborating the facial phenotype of neurodevelopmental disorders through the prism of schizophrenia [PDF]

, 2017
Purpose of Review: In the context of human developmental conditions, we review the conceptualisation of schizophrenia as a neurodevelopmental disorder, the status of craniofacial dysmorphology as a clinically accessible index of brain ...
Bowman, Adrian W., Katina, Stanislav, O'Tuathaigh, Colm M.P., Waddington, John L.   +3 more
core   +1 more source