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 …
with developmental delay, cerebral palsy or seizures. The neurological outcome is …
Imaging Review of Pediatric Monogenic CNS Vasculopathy with Genetic Correlation
Monogenic cerebral vasculopathy is a rare but progressively recognizable cause of pediatric
cerebral vasculopathy manifesting as early as fetal life. These monogenic cerebral …
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 …
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 …
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 …
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 …
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 …
factor in midbrain dopaminergic neurogenesis, but the global set of human NURR1 target …
[HTML][HTML] Childhood cerebral vasculitis: a multidisciplinary approach
Cerebral vasculitis is increasingly recognized as a common cause of pediatric arterial
stroke. It can present with focal neurological deficits, psychiatric manifestations, seizures …
stroke. It can present with focal neurological deficits, psychiatric manifestations, seizures …
ACTA2-related dysgyria: an under-recognized malformation of cortical development
BACKGROUND AND PURPOSE: Pathogenic variants in the ACTA2 gene cause a
distinctive arterial phenotype that has recently been described to be associated with brain …
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 …
stroke or intracranial hemorrhage and have a broad range of possible etiologies that require …