Object Seizures are a common presenting sign of intracranial arteriovenous malformations (AVMs).
The object of this meta-analysis was to determine if the modality selected to treat …

RNA polymerase II mediates the transcription of all protein-coding genes in eukaryotic cells,
a process that is fundamental to life. Genomic mutations altering this enzyme have not …

Ubiquitin C-terminal hydrolase-L1 (UCHL1), a neuron-specific de-ubiquitinating enzyme, is
one of the most abundant proteins in the brain. We describe three siblings from a …

Background Knobloch syndrome is a rare, autosomal recessive, developmental disorder
characterized by stereotyped ocular abnormalities with or without occipital skull deformities (…

OBJECTIVE Recent large-cohort sequencing studies have investigated the genomic landscape
of meningiomas, identifying somatic coding alterations in NF2 , SMARCB1 , SMARCE1 , …

Mutations in the genes KRIT1, CCM2, and PDCD10 are known to result in the formation of
cerebral cavernous malformations (CCMs). CCMs are intracranial lesions composed of …

Exome sequencing analysis of over 2,000 children with complex malformations of cortical
development identified five independent (four homozygous and one compound heterozygous) …

N-glycanase 1 (NGLY1) is a conserved enzyme that is responsible for the deglycosylation
of misfolded N-glycosylated proteins in the cytoplasm prior to their proteasome-mediated …

Background Recently, middle meningeal artery (MMA) embolization has emerged as a
potentially safe and effective method of treating chronic subdural hematoma (cSDH). Objective …

Background The transradial artery (TRA) approach for neuroendovascular procedures
continues to gain popularity, but neurointerventionalists still lag behind interventional …