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Article
Open AccessLong-term cognitive outcomes in term newborns with watershed injury caused by neonatal encephalopathy
We previously reported that increasing severity of watershed (WS) injury in neonatal magnetic resonance imaging (MRI) is associated with worse language outcomes in early childhood. In the present study, we inv...
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Article
Open AccessThe Effect of Size and Asymmetry at Birth on Brain Injury and Neurodevelopmental Outcomes in Congenital Heart Disease
Poor and asymmetric fetal growth have been associated with neonatal brain injury (BI) and worse neurodevelopmental outcomes (NDO) in the growth-restricted population due to placental insufficiency. We tested t...
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Article
Bronchopulmonary dysplasia precursors influence risk of white matter injury and adverse neurodevelopmental outcome in preterm infants
Cumulative supplemental oxygen (CSO) and cumulative mean airway pressure (CMAP) are associated with bronchopulmonary dysplasia (BPD) in preterm infants, but their relationships to white matter injury (WMI) and...
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Chapter
Radiology
Neuroimaging is a key tool in evaluating and diagnosing those disorders of the craniocervical junction known as “Chiari malformations.” Although linked by their name, these are very different disorders, linked...
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Article
Early changes in pro-inflammatory cytokine levels in neonates with encephalopathy are associated with remote epilepsy
Neonatal seizures are associated with adverse neurologic sequelae including epilepsy in childhood. Here we aim to determine whether levels of cytokines in neonates with brain injury are associated with acute s...
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Article
Plasma cholesterol levels and brain development in preterm newborns
To assess whether postnatal plasma cholesterol levels are associated with microstructural and macrostructural regional brain development in preterm newborns.
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Article
New insights into neurocutaneous melanosis
Neurocutaneous melanosis is a rare disorder in which children with large cutaneous melanotic nevi have associated melanosis in the brain. Although many affected children have structurally normal brains, some h...
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Article
Open AccessRegionally specific TSC1 and TSC2 gene expression in tuberous sclerosis complex
Tuberous sclerosis complex (TSC), a heritable neurodevelopmental disorder, is caused by mutations in the TSC1 or TSC2 genes. To date, there has been little work to elucidate regional TSC1 and TSC2 gene expression...
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Article
Open AccessCXCR4 involvement in neurodegenerative diseases
Neurodegenerative diseases likely share common underlying pathobiology. Although prior work has identified susceptibility loci associated with various dementias, few, if any, studies have systematically evalua...
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Article
Pediatric neuro MRI: tricks to minimize sedation
Magnetic resonance imaging (MRI) is the workhorse modality in pediatric neuroimaging because it provides excellent soft-tissue contrast without ionizing radiation. Until recently, studies were uninterpretable ...
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Article
Postnatal polyunsaturated fatty acids associated with larger preterm brain tissue volumes and better outcomes
Human studies investigating the link between postnatal polyunsaturated fatty acids and preterm brain growth are limited, despite emerging evidence of potential effects on outcomes.
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Article
Shared genetic risk between corticobasal degeneration, progressive supranuclear palsy, and frontotemporal dementia
Corticobasal degeneration (CBD), progressive supranuclear palsy (PSP) and a subset of frontotemporal dementia (FTD) are neurodegenerative disorders characterized by tau inclusions in neurons and glia (tauopath...
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Article
Biallelic mutations in human DCC cause developmental split-brain syndrome
Timothy Yu and colleagues report that biallelic mutations in DCC cause a developmental syndrome characterized by widespread disruption of midline-bridging neuronal commissures, including agenesis of the corpus ca...
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Article
Early postnatal docosahexaenoic acid levels and improved preterm brain development
Preterm birth has a dramatic impact on polyunsaturated fatty acid exposures for the develo** brain. This study examined the association between postnatal fatty acid levels and measures of brain injury and de...
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Article
Disrupted glutamate-glutamine cycle in acute encephalopathy with biphasic seizures and late reduced diffusion
Acute encephalopathy with biphasic seizures and late reduced diffusion (AESD) is the most common subtype of infectious pediatric encephalopathy in Japan. It is sometimes difficult to make an early diagnosis of...
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Article
Impaired cognitive performance in premature newborns with two or more surgeries prior to term-equivalent age
Anesthesia in early childhood is associated with adverse neurodevelopmental outcome; however, it is not known if age at exposure affects the risk of adverse outcome. Our objective was to evaluate the associati...
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Article
An siRNA-based functional genomics screen for the identification of regulators of ciliogenesis and ciliopathy genes
Defects in primary cilium biogenesis underlie the ciliopathies, a growing group of genetic disorders. We describe a whole-genome siRNA-based reverse genetics screen for defects in biogenesis and/or maintenance...
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Chapter and Conference Paper
NEOCIVET: Extraction of Cortical Surface and Analysis of Neonatal Gyrification Using a Modified CIVET Pipeline
Cerebral cortical gyration becomes dramatically more complex in the fetal brain during the 3rd trimester of gestation; the process proceeds in a similar fashion ex utero in children who are born prematurely. To q...
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Article
Open AccessNeuropathology of brain and spinal malformations in a case of monosomy 1p36
Monosomy 1p36 is the most common subtelomeric chromosomal deletion linked to mental retardation and seizures. Neuroimaging studies suggest that monosomy 1p36 is associated with brain malformations including po...
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Article
Volumetric and surface-based 3D MRI analyses of fetal isolated mild ventriculomegaly
Diagnosis of fetal isolated mild ventriculomegaly (IMVM) is the most common brain abnormality on prenatal ultrasound. We have set to identify potential alterations in brain development specific to IMVM in tiss...