American Board of Psychiatry and Neurology (Child and Adolescent Neurology)
American Board of Pathology (Neuropathology)
Publications
Dissecting the immune landscape in pediatric high-grade glioma reveals cell state changes under therapeutic pressure. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Systemically injected oxygen within rapidly dissolving microbubbles improves the outcomes of severe hypoxaemia in swine. View Abstract
The choroid plexus synergizes with immune cells during neuroinflammation. View Abstract
Dominant stop-loss HNRNPA1 variants in juvenile-onset myopathy. View Abstract
Analysis of DNA from brain tissue on stereo-EEG electrodes reveals mosaic epilepsy-related variants. View Abstract
Clinical utility of DNA methylation profiling for choroid plexus tumors. View Abstract
H3K27-altered diffuse midline gliomas with MAPK pathway alterations: Prognostic and therapeutic implications. View Abstract
Somatic Mosaicism in PIK3CA Variant Correlates With Stereoelectroencephalography-Derived Electrophysiology. View Abstract
Post-zygotic rescue of meiotic errors causes brain mosaicism and focal epilepsy. View Abstract
Death after High-Dose rAAV9 Gene Therapy in a Patient with Duchenne's Muscular Dystrophy. View Abstract
Non-vascular intracranial lesions in three children with PHACE association. View Abstract
A collaboration between immune cells and the choroid plexus epithelium in brain inflammation. View Abstract
Variants in DTNA cause a mild, dominantly inherited muscular dystrophy. View Abstract
Two siblings with GAPO syndrome: Ophthalmic presentation and histopathologic findings. View Abstract
Clinical Features, Neuropathology, and Surgical Outcome in Patients With Refractory Epilepsy and Brain Somatic Variants in the SLC35A2 Gene. View Abstract
PD-L1 and PD-1 expression in pediatric central nervous system germ cell tumors. View Abstract
Somatic variants in diverse genes leads to a spectrum of focal cortical malformations. View Abstract
Disruption of GMNC-MCIDAS multiciliogenesis program is critical in choroid plexus carcinoma development. View Abstract
Intracranial venous malformation masquerading as a meningioma in PI3KCA-related overgrowth spectrum disorder. View Abstract
Spatiotemporal changes in diffusivity and anisotropy in fetal brain tractography. View Abstract
Medulloblastoma in the setting of megalencephaly polymicrogyria polydactyly hydrocephalus. View Abstract
Loss of histone H3 trimethylation on lysine 27 and nuclear expression of transducin-like enhancer 1 in primary intracranial sarcoma, DICER1-mutant. View Abstract
Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. View Abstract
A novel homozygous splice-site mutation in the SPTBN4 gene causes axonal neuropathy without intellectual disability. View Abstract
Increasing value of autopsies in patients with brain tumors in the molecular era. View Abstract
White matter mean diffusivity correlates with myelination in tuberous sclerosis complex. View Abstract
Perioperatively Inhaled Hydrogen Gas Diminishes Neurologic Injury Following Experimental Circulatory Arrest in Swine. View Abstract
Identification of a pathogenic mutation in ATP2A1 via in silico analysis of exome data for cryptic aberrant splice sites. View Abstract
Histopathologic Correlates of Familial Hemophagocytic Lymphohistiocytosis Isolated to the Central Nervous System. View Abstract
The ESCRT-III Protein CHMP1A Mediates Secretion of Sonic Hedgehog on a Distinctive Subtype of Extracellular Vesicles. View Abstract
PHOX2B is a reliable immunomarker in distinguishing peripheral neuroblastic tumours from CNS embryonal tumours. View Abstract
Somatic SLC35A2 variants in the brain are associated with intractable neocortical epilepsy. View Abstract
Mice Expressing Myc in Neural Precursors Develop Choroid Plexus and Ciliary Body Tumors. View Abstract
Multiparametric Analysis of Permeability and ADC Histogram Metrics for Classification of Pediatric Brain Tumors by Tumor Grade. View Abstract
A novel GIT2-BRAF fusion in pilocytic astrocytoma. View Abstract
Clinical targeted exome-based sequencing in combination with genome-wide copy number profiling: precision medicine analysis of 203 pediatric brain tumors. View Abstract
GM2 Activator Deficiency Caused by a Homozygous Exon 2 Deletion in GM2A. View Abstract
AIFM1 mutation presenting with fatal encephalomyopathy and mitochondrial disease in an infant. View Abstract
The sensitivity of exome sequencing in identifying pathogenic mutations for LGMD in the United States. View Abstract
Pseudouridine synthase 1 deficient mice, a model for Mitochondrial Myopathy with Sideroblastic Anemia, exhibit muscle morphology and physiology alterations. View Abstract
Mutations in the substrate binding glycine-rich loop of the mitochondrial processing peptidase-a protein (PMPCA) cause a severe mitochondrial disease. View Abstract
Sonic Hedgehog promotes proliferation of Notch-dependent monociliated choroid plexus tumour cells. View Abstract
EPG5-related Vici syndrome: a paradigm of neurodevelopmental disorders with defective autophagy. View Abstract
Tubers are neither static nor discrete: Evidence from serial diffusion tensor imaging. View Abstract
Human HOIP and LUBAC deficiency underlies autoinflammation, immunodeficiency, amylopectinosis, and lymphangiectasia. View Abstract
Spatially heterogeneous choroid plexus transcriptomes encode positional identity and contribute to regional CSF production. View Abstract
Rasmussen's encephalitis presenting as focal cortical dysplasia. View Abstract
Exome sequencing identifies BRAF mutations in papillary craniopharyngiomas. View Abstract
The lost art of localization: Franc Ingraham's legacy in pediatric neurosurgery. View Abstract
Intrasacral meningocele in the pediatric population. View Abstract
OTX2 represses myogenic and neuronal differentiation in medulloblastoma cells. View Abstract
Mutations in the satellite cell gene MEGF10 cause a recessive congenital myopathy with minicores. View Abstract
Primary calcified rhabdoid meningioma of the cranio-cervical junction: A case report and review of literature. View Abstract
Rapid reversal of uremic neuropathy following renal transplantation in an adolescent. View Abstract
Extradural en-plaque spinal meningioma with intraneural invasion. View Abstract
Molecular diagnosis of hereditary inclusion body myopathy by linkage analysis and identification of a novel splice site mutation in GNE. View Abstract
Pediatric sciatic neuropathy associated with neoplasms. View Abstract
Hypothermic circulatory arrest increases permeability of the blood brain barrier in watershed areas. View Abstract
Differential neuronal vulnerability varies according to specific cardiopulmonary bypass insult in a porcine survival model. View Abstract
Fukutin-related protein is essential for mouse muscle, brain and eye development and mutation recapitulates the wide clinical spectrums of dystroglycanopathies. View Abstract
Activation of paternally expressed genes and perinatal death caused by deletion of the Gtl2 gene. View Abstract
Inefficient dystrophin expression after cord blood transplantation in Duchenne muscular dystrophy. View Abstract
Optimal dose of aprotinin for neuroprotection and renal function in a piglet survival model. View Abstract
Aprotinin protects the cerebral microcirculation during cardiopulmonary bypass. View Abstract
A case of congenital glycogen storage disease type IV with a novel GBE1 mutation. View Abstract
Dystrophin,:the dystrophin associated protein complex, and muscular dystrophy View Abstract
Distinctive patterns of microRNA expression in primary muscular disorders. View Abstract
Extracranial metastases of glioblastoma in a child: case report and review of the literature. View Abstract
Diagnostic value of electromyography and muscle biopsy in arthrogryposis multiplex congenita. View Abstract
Cerebral amyloid angiopathy associated with primary angiitis of the central nervous system: report of 2 cases and review of the literature. View Abstract
Expression profiling reveals altered satellite cell numbers and glycolytic enzyme transcription in nemaline myopathy muscle. View Abstract
Long-term persistence of donor nuclei in a Duchenne muscular dystrophy patient receiving bone marrow transplantation. View Abstract
Primary gamma-sarcoglycanopathy (LGMD 2C): broadening of the mutational spectrum guided by the immunohistochemical profile. View Abstract
Combination of alpha-stat strategy and hemodilution exacerbates neurologic injury in a survival piglet model with deep hypothermic circulatory arrest. View Abstract
Prediction of safe duration of hypothermic circulatory arrest by near-infrared spectroscopy. View Abstract
Desmuslin, an intermediate filament protein that interacts with alpha -dystrobrevin and desmin. View Abstract
Granulomatous angiitis with ƒÒ-amyloid angiopathy as a mass lesion View Abstract