Area of research
Neurology · Genetics
Research interest
Research interests include Neurofibromatosis and Schwannoma Cases, Neuroblastoma Research and Treatments, Glioma Diagnosis and Treatment, and Meningioma and schwannoma management.
Cognition and behavior in neurofibromatosis type 1: report and perspective from the Cognition and Behavior in NF1 (CABIN) Task Force
Updated diagnostic criteria and nomenclature for neurofibromatosis type 2 and schwannomatosis: An international consensus recommendation
Management of neurofibromatosis type 1-associated plexiform neurofibromas
MEK inhibitors for neurofibromatosis type 1 manifestations: Clinical evidence and consensus
Management and surgical outcomes of dystrophic scoliosis in neurofibromatosis type 1: a systematic review
Revised diagnostic criteria for neurofibromatosis type 1 and Legius syndrome: an international consensus recommendation
The Use of MEK Inhibitors in Neurofibromatosis Type 1–Associated Tumors and Management of Toxicities
Slowing late infantile Batten disease by direct brain parenchymal administration of a rh.10 adeno-associated virus expressing <i>CLN2</i>
Clinical spectrum of individuals with pathogenic <i> <b>N</b> F1 </i> missense variants affecting p.Met1149, p.Arg1276, and p.Lys1423: genotype–phenotype study in neurofibromatosis type 1
Care of adults with neurofibromatosis type 1: a clinical practice resource of the American College of Medical Genetics and Genomics (ACMG)
Disease characteristics and progression in patients with late-infantile neuronal ceroid lipofuscinosis type 2 (CLN2) disease: an observational cohort study
Comparison of hybrid 18F.fluorodeoxyglucose positron emission tomography/magnetic resonance imaging and positron emission tomography/computed tomography for evaluation of peripheral nerve sheath tumors in patients with neurofibromatosis type 1
Creation of an international registry to support discovery in schwannomatosis
Long-Term Expression and Safety of Administration of AAVrh.10hCLN2 to the Brain of Rats and Nonhuman Primates for the Treatment of Late Infantile Neuronal Ceroid Lipofuscinosis
Looking for a research collaborator?
Search millions of scientists by field, institution, impact, and funding status — see their work, find their email, and reach out directly.
Find collaborators in Neurology · Genetics →