Area of research
Neurology · Clinical Biochemistry
Research interest
Research interests include Neurological diseases and metabolism, Metabolism and Genetic Disorders, Porphyrin Metabolism and Disorders, and Metalloenzymes and iron-sulfur proteins.
<i>KMT2B</i>-related disorders: expansion of the phenotypic spectrum and long-term efficacy of deep brain stimulation
Mutations in SLC39A14 disrupt manganese homeostasis and cause childhood-onset parkinsonism–dystonia
MECR Mutations Cause Childhood-Onset Dystonia and Optic Atrophy, a Mitochondrial Fatty Acid Synthesis Disorder
Exome Sequencing Reveals De Novo WDR45 Mutations Causing a Phenotypically Distinct, X-Linked Dominant Form of NBIA