Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Mitochondrial Function and Pathology, Metabolism and Genetic Disorders, Genetics and Neurodevelopmental Disorders, and Coenzyme Q10 studies and effects.
Genotype-specific effects of elamipretide in patients with primary mitochondrial myopathy: a post hoc analysis of the MMPOWER-3 trial
Top caregiver concerns in Rett syndrome and related disorders: data from the US natural history study
Distribution of hand function by age in individuals with Rett syndrome
Mitochondrial dysfunction associated with TANGO2 deficiency
Anxiety-like behavior and anxiolytic treatment in the Rett syndrome natural history study
Time to harmonize mitochondrial syndrome nomenclature and classification: A consensus from the North American Mitochondrial Disease Consortium (NAMDC)
Analysis of <scp>X‐inactivation</scp> status in a Rett syndrome natural history study cohort
Levetiracetam Versus Phenobarbital for Neonatal Seizures: A Randomized Controlled Trial
A randomized crossover trial of elamipretide in adults with primary mitochondrial myopathy
A Psychometric Evaluation of the Motor-Behavioral Assessment Scale for Use as an Outcome Measure in Rett Syndrome Clinical Trials
Mitochondrial Dysfunction in Aging and Diseases of Aging
Endocrine Disorders in Primary Mitochondrial Disease
Mitochondrial disease phenotypes of 999 patients in the North American Mitochondrial Disease Consortium (NAMDC) (P1.141)
Patient care standards for primary mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
Solid organ transplantation in primary mitochondrial disease: Proceed with caution
Whole exome sequencing and whole mitochondrial genome sequencing for molecular diagnosis of mitochondrial disorders: Lessons from 865 Cases
Diagnosis and management of mitochondrial disease: a consensus statement from the Mitochondrial Medicine Society
A Randomized Clinical Trial of High-Dosage Coenzyme Q10 in Early Parkinson Disease
Mitochondrial Disease Sequence Data Resource (MSeqDR): A global grass-roots consortium to facilitate deposition, curation, annotation, and integrated analysis of genomic data for the mitochondrial disease clinical and research communities
A novel missense mutation in POMT1 modulates the severe congenital muscular dystrophy phenotype associated with POMT1 nonsense mutations
A seven-day study of the pharmacokinetics of intravenous levetiracetam in neonates: marked changes in pharmacokinetics occur during the first week of life