Area of research
Molecular Biology · Clinical Biochemistry
Research interest
Research interests include Biology, Genetics, Medicine, Mitochondrial fission, Atrophy, and DNM1L.
Oral vitamin B12 supplementation in pernicious anemia: a prospective cohort study
The top 10 most frequently involved genes in hereditary optic neuropathies in 2186 probands
Physiology of PNS axons relies on glycolytic metabolism in myelinating Schwann cells
DRP1 haploinsufficiency attenuates cardiac ischemia/reperfusion injuries
Genetic association study of exfoliation syndrome identifies a protective rare variant at LOXL1 and five new susceptibility loci
Mutations in DNM1L, as in OPA1, result in dominant optic atrophy despite opposite effects on mitochondrial fusion and fission
Neurologic Phenotypes Associated With Mutations in <i>RTN4IP1</i> (<i>OPA10</i>) in Children and Young Adults
Biallelic Variants in UBA5 Reveal that Disruption of the UFM1 Cascade Can Result in Early-Onset Encephalopathy
A common variant near TGFBR3 is associated with primary open angle glaucoma