Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Peroxisome Proliferator-Activated Receptors, Metabolism and Genetic Disorders, RNA regulation and disease, and Neonatal and fetal brain pathology.
AAV9-DARS2 Gene Therapy Rescues Phenotype in Leukoencephalopathy with Brainstem and Spinal Cord Involvement and Lactate Elevation Patient Cells and Neuronal Dars2 Deficient Mice.
Risk of Seizures and Epilepsy in the Leukodystrophies.
Evidence of Iron Accumulation in Cerebral Adrenoleukodystrophy: A Potential Novel Disease Mechanism.
Use of Brain MRI in Cerebral Adrenoleukodystrophy: International Recommendations for Screening, Monitoring, and Research.
Consensus-Based Expert Recommendations for Diagnosis and Clinical Management of Vanishing White Matter.
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study
Clinically Important Endpoints in Individuals With Leukodystrophy: A Multisite Study.
Reporting ABCD1 variants as actionable secondary findings on exome and genome sequencing.
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach
Consensus guidelines for the monitoring and management of metachromatic leukodystrophy in the United States.
Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy
Longitudinal natural history studies based on real-world data in rare diseases: Opportunity and a novel approach.
Leriglitazone halts disease progression in adult patients with early cerebral adrenoleukodystrophy.
International validation of meaningfulness of postural sway and gait to assess myeloneuropathy in adults with adrenoleukodystrophy.
De novo variants in DENND5B cause a neurodevelopmental disorder.
Developmental delay can precede neurologic regression in early onset metachromatic leukodystrophy.
Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.
Letter to the Editor: The Application of Interleukin-1 Antagonists in Patients With Megalencephalic Leukoencephalopathy With Subcortical Cysts: Caution Warranted
Sphingolipid desaturase DEGS1 is essential for mitochondria-associated membrane integrity.
Safety and efficacy of leriglitazone for preventing disease progression in men with adrenomyeloneuropathy (ADVANCE): a randomised, double-blind, multi-centre, placebo-controlled phase 2-3 trial.
Clinical and functional consequences of GRIA variants in patients with neurological diseases.
A Phase 1 Study of Oral Vitamin D<sub>3</sub> in Boys and Young Men With X-Linked Adrenoleukodystrophy.
Targeted Brain Delivery of Dendrimer-4-Phenylbutyrate Ameliorates Neurological Deficits in a Long-Term ABCD1-Deficient Mouse Model of X-Linked Adrenoleukodystrophy.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy vanishing white matter: a consensus statement by the VWM consortium and patient advocates.
Core protocol development for phase 2/3 clinical trials in the leukodystrophy Vanishing White Matter
Integrating de novo and inherited variants in 42,607 autism cases identifies mutations in new moderate-risk genes
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy
International Recommendations for the Diagnosis and Management of Patients With Adrenoleukodystrophy: A Consensus-Based Approach.
Antisense Oligonucleotide Therapy for the Nervous System: From Bench to Bedside with Emphasis on Pediatric Neurology.