Neurological phenotypes for Down syndrome across the life span

IT Lott - Progress in brain research, 2012 - Elsevier
This chapter reviews the neurological phenotype of Down syndrome (DS) in early
development, childhood, and aging. Neuroanatomic abnormalities in DS are manifested as …

The role of DYRK1A in neurodegenerative diseases

J Wegiel, CX Gong, YW Hwang - The FEBS journal, 2011 - Wiley Online Library
Recent studies indicate that the dual‐specificity tyrosine phosphorylation‐regulated kinase
1A (DYRK1A) gene, which is located on chromosome 21q22. 2 and is overexpressed in …

Down's syndrome: a genetic disorder in biobehavioral perspective

L Nadel - Genes, Brain and Behavior, 2003 - Wiley Online Library
Down's syndrome is a genetic disorder that can lead to mental retardation of varying
degrees. How this chromosomal abnormality causes mental retardation remains an open …

Education and children with Down syndrome: Neuroscience, development, and intervention

DJ Fidler, L Nadel - Mental retardation and developmental …, 2007 - Wiley Online Library
Of the recent advances in education‐related research in Down syndrome, the
characterization of the Down syndrome behavioral phenotype has become a potentially …

Communication breaks-Down: from neurodevelopment defects to cognitive disabilities in Down syndrome

A Contestabile, F Benfenati, L Gasparini - Progress in neurobiology, 2010 - Elsevier
Down syndrome (DS) is the leading cause of genetically-defined intellectual disability and
congenital birth defects. Despite being one of the first genetic diseases identified, only …

Dual‐specificity tyrosine (Y)‐phosphorylation regulated kinase 1A‐mediated phosphorylation of amyloid precursor protein: evidence for a functional link between …

SR Ryoo, HJ Cho, HW Lee, HK Jeong… - Journal of …, 2008 - Wiley Online Library
Abstract Most individuals with Down Syndrome (DS) show an early‐onset of Alzheimer's
disease (AD), which potentially results from the presence of an extra copy of a segment of …

New approaches to studying early brain development in Down syndrome

AA Baburamani, PA Patkee, T Arichi… - … medicine & child …, 2019 - Wiley Online Library
Down syndrome is the most common genetic developmental disorder in humans and is
caused by partial or complete triplication of human chromosome 21 (trisomy 21). It is a …

[HTML][HTML] Spatial vision deficits in infants and children with Down syndrome

FM John, NR Bromham, JM Woodhouse… - … & visual science, 2004 - arvojournals.org
purpose. Infants and children with Down syndrome show reduced visual acuity and contrast
sensitivity when tested with conventional behavioral techniques. These results may reflect …

Fetal Down syndrome brains exhibit aberrant levels of neurotransmitters critical for normal brain development

N Whittle, SB Sartori, M Dierssen, G Lubec… - …, 2007 - publications.aap.org
BACKGROUND. In the immature develo** fetal brain, amino acids (such as γ-
aminobutyric acid, and taurine) and monoamines (serotonin, noradrenaline, and dopamine) …

Aberrant expression of cytoskeleton proteins in hippocampus from patients with mesial temporal lobe epilepsy

JW Yang, T Czech, M Felizardo, C Baumgartner… - Amino acids, 2006 - Springer
Mesial temporal lobe epilepsy (MTLE), the most common form of epilepsy, is characterised
by cytoarchitectural abnormalities including neuronal cell loss and reactive gliosis in …