PURA syndrome: clinical delineation and genotype-phenotype study in 32 individuals with review of published literature
Background De novo mutations in PURA have recently been described to cause PURA
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …
syndrome, a neurodevelopmental disorder characterised by severe intellectual disability …
Brain stimulation and brain lesions converge on common causal circuits in neuropsychiatric disease
Damage to specific brain circuits can cause specific neuropsychiatric symptoms.
Therapeutic stimulation to these same circuits may modulate these symptoms. To determine …
Therapeutic stimulation to these same circuits may modulate these symptoms. To determine …
[HTML][HTML] Vascular inflammation in cerebral small vessel disease
RPW Rouhl, JGMC Damoiseaux, J Lodder… - Neurobiology of …, 2012 - Elsevier
Cerebral small vessel disease (CSVD) is considered to be caused by an increased
permeability of the blood-brain barrier and results in enlargement of Virchow Robin spaces …
permeability of the blood-brain barrier and results in enlargement of Virchow Robin spaces …
[HTML][HTML] Treating rhythmic and periodic EEG patterns in comatose survivors of cardiac arrest
BJ Ruijter, HM Keijzer… - … England Journal of …, 2022 - Mass Medical Soc
Background Whether the treatment of rhythmic and periodic electroencephalographic (EEG)
patterns in comatose survivors of cardiac arrest improves outcomes is uncertain. Methods …
patterns in comatose survivors of cardiac arrest improves outcomes is uncertain. Methods …
Evaluation of seizure treatment in anti-LGI1, anti-NMDAR, and anti-GABABR encephalitis
MAAM de Bruijn, A van Sonderen… - Neurology, 2019 - AAN Enterprises
Objective This nationwide cohort study evaluates seizure responses to immunotherapy and
antiepileptic drugs (AEDs) in patients with anti-leucine-rich glioma-inactivated 1 (LGI1), anti …
antiepileptic drugs (AEDs) in patients with anti-leucine-rich glioma-inactivated 1 (LGI1), anti …
Ambulatory blood pressure in patients with lacunar stroke: association with total MRI burden of cerebral small vessel disease
P Klarenbeek, RJ van Oostenbrugge, RPW Rouhl… - Stroke, 2013 - Am Heart Assoc
Background and Purpose—Asymptomatic lacunar infarcts, white matter lesions, cerebral
microbleeds, and enlarged perivascular spaces are MRI markers of cerebral small vessel …
microbleeds, and enlarged perivascular spaces are MRI markers of cerebral small vessel …
A comprehensive view on MRI techniques for imaging blood-brain barrier integrity
The blood-brain barrier (BBB) is the interface between the blood and brain tissue, which
regulates the maintenance of homeostasis within the brain. Impaired BBB integrity is …
regulates the maintenance of homeostasis within the brain. Impaired BBB integrity is …
Diagnostic exome sequencing in 100 consecutive patients with both epilepsy and intellectual disability
FM Snoeijen‐Schouwenaars, JS van Ool… - …, 2019 - Wiley Online Library
Objective Epilepsy is highly prevalent among patients with intellectual disability (ID), and
seizure control is often difficult. Identification of the underlying etiology in this patient group is …
seizure control is often difficult. Identification of the underlying etiology in this patient group is …
Mapping lesion-related epilepsy to a human brain network
Importance It remains unclear why lesions in some locations cause epilepsy while others do
not. Identifying the brain regions or networks associated with epilepsy by mapping these …
not. Identifying the brain regions or networks associated with epilepsy by mapping these …
Endothelial progenitor cell research in stroke: a potential shift in pathophysiological and therapeutical concepts
RPW Rouhl, RJ van Oostenbrugge, J Damoiseaux… - Stroke, 2008 - Am Heart Assoc
Background and Purpose—Stroke is the leading cause of disability in the Western world;
however, few therapies are at hand to decrease this burden. Summary of Review …
however, few therapies are at hand to decrease this burden. Summary of Review …