Associated Papers
The genetics of mitochondrial disease: dissecting mitochondrial pathology using multi-omic pipelines.
Alston CL et al.
The Journal of Pathology, 2021
Disorders of riboflavin metabolism.
Balasubramaniam S et al.
Journal of Inherited Metabolic Disease, 2019
Post-mortem detection of FLAD1 mutations in 2 Turkish siblings with hypotonia in early infancy.
Yıldız Y et al.
Neuromuscular Disorders : Nmd, 2018
Riboflavin-Responsive and -Non-responsive Mutations in FAD Synthase Cause Multiple Acyl-CoA Dehydrogenase and Combined Respiratory-Chain Deficiency.
Olsen RKJ et al.
American Journal of Human Genetics, 2016
Use of whole-exome sequencing to determine the genetic basis of multiple mitochondrial respiratory chain complex deficiencies.
Taylor RW et al.
Jama, 2014
Retrograde response to mitochondrial dysfunctions associated to LOF variations in FLAD1 exon 2: unraveling the importance of RFVT2.
Tolomeo M et al.
Free Radical Research, 0
Select a paper to view details