Associated Papers
Two Novel Pediatric Cases of EIF4A2-Related Disorder With Refractory Infantile Spasms.
Painter J et al.
American Journal of Medical Genetics. Part A, 2025
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
OxPhos defects cause hypermetabolism and reduce lifespan in cells and in patients with mitochondrial diseases.
Sturm G et al.
Communications Biology, 2023
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ et al.
Annals of Neurology, 2022
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
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