A homozygous variant in NDUFA8 is associated with developmental delay, microcephaly, and epilepsy due to mitochondrial complex I deficiency

Yukiko Yatsuka, Yoshihito Kishita, Luke E. Formosa, Masaru Shimura, Fumihito Nozaki, Tatsuya Fujii, Kazuhiro R. Nitta, Akira Ohtake, Kei Murayama, Michael T. Ryan, Yasushi Okazaki

Research output: Contribution to journal › Article › Other › peer-review

13 Citations (Scopus)

2 results

Finished

Dissecting the functions of accessory subunits in mitochondrial complex I
Ryan, M.
National Health and Medical Research Council (NHMRC) (Australia)
1/01/19 → 31/12/21
Project: Research
Personalised Medicine for Mitochondrial Disorders: Targeting Pathogenic Mechanisms
Ryan, M., Dottori, M. & Thorburn, D. R.
National Health and Medical Research Council (NHMRC) (Australia)
1/01/16 → 31/12/20
Project: Research