Definitions and classification of malformations of cortical development: practical guidelines

M Severino, AF Geraldo, N Utz, D Tortora, I Pogledic… - Brain, 2020 - academic.oup.com
Malformations of cortical development are a group of rare disorders commonly manifesting
with developmental delay, cerebral palsy or seizures. The neurological outcome is …

Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation

N Gupta, E Miller, A Bhatia, J Richer, RI Aviv… - RadioGraphics, 2024 - pubs.rsna.org
Monogenic cerebral vasculopathy is a rare but progressively recognizable cause of pediatric
cerebral vasculopathy manifesting as early as fetal life. These monogenic cerebral …

Cerebrovascular Disease Progression in Patients With ACTA2 Arg179 Pathogenic Variants

A Lauer, SL Speroni, JB Patel, E Regalado, M Choi… - Neurology, 2021 - AAN Enterprises
Objective To establish progression of imaging biomarkers of stroke, arterial steno-occlusive
disease, and white matter injury in patients with smooth muscle dysfunction syndrome …

Cerebral arteriopathy and ischemic stroke in a pediatric MYH11 patient

A Raghuram, S Sanchez, Y Lu, M Hickerson… - Journal of stroke and …, 2023 - Elsevier
Objectives Mutations in the MYH11 gene result in smooth muscle cell dysfunction and are
associated with familial thoracic aortic aneurysms and dissection. We describe a pediatric …

Neuroimaging in pediatric stroke and cerebrovascular disease

AE Goldman-Yassen, S Dehkharghani - Exon Publications, 2021 - exonpublications.com
Although less common than in adults, stroke is the sixth leading cause of death in children,
affecting~ 2–13 children per 100,000 under 18 years of age. Because it is underappreciated …

Imaging of Suspected Stroke in Children, From the AJR Special Series on Emergency Radiology

LO Tierradentro-García, A Zandifar… - American Journal of …, 2023 - Am Roentgen Ray Soc
Pediatric stroke encompasses different causes, clinical presentations, and associated
conditions across ages. Although it is relatively uncommon, pediatric stroke presents with …

[HTML][HTML] Genome-wide analysis identifies NURR1-controlled network of new synapse formation and cell cycle arrest in human neural stem cells

SM Kim, SY Cho, MW Kim, SR Roh, HS Shin, YH Suh… - Molecules and cells, 2020 - Elsevier
Nuclear receptor-related 1 (Nurr1) protein has been identified as an obligatory transcription
factor in midbrain dopaminergic neurogenesis, but the global set of human NURR1 target …

[HTML][HTML] Childhood cerebral vasculitis: a multidisciplinary approach

N Gupta, SB Hiremath, RI Aviv, N Wilson - Clinical Neuroradiology, 2023 - Springer
Cerebral vasculitis is increasingly recognized as a common cause of pediatric arterial
stroke. It can present with focal neurological deficits, psychiatric manifestations, seizures …

ACTA2-related dysgyria: an under-recognized malformation of cortical development

S Subramanian, A Biswas, C Alves… - American Journal …, 2022 - Am Soc Neuroradiology
BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a
distinctive arterial phenotype that has recently been described to be associated with brain …

[HTML][HTML] A familial missense ACTA2 variant p. Arg198Cys leading to Moyamoya-like arteriopathy with straight course of the intracranial arteries, aortic aneurysm and …

JK Focke, M Kraemer - Neurological Research and Practice, 2023 - Springer
Background Cerebral vasculopathies frequently lead to severe medical conditions such as
stroke or intracranial hemorrhage and have a broad range of possible etiologies that require …