Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.

Lai KL, Smith TB, Maroofian R, Zaki MS, Ramadesikan S, Reynolds T, Koboldt DC, Hunter JM, Vidaurre J, Atanasova M, Marsden BD, Yue WW, Houlden H, Taylor RW, Newman WG, O'Keefe RT.

Open source

DOI: 10.1007/s10048-026-00892-5
Published: 2026-03-03
Container: Neurogenetics
Publisher: Not recorded
Open access: yes

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Cite this work

BibTeX

@article{allodium:10.1007/s10048-026-00892-5,
  title = {Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.},
  author = {Lai KL and  Smith TB and  Maroofian R and  Zaki MS and  Ramadesikan S and  Reynolds T and  Koboldt DC and  Hunter JM and  Vidaurre J and  Atanasova M and  Marsden BD and  Yue WW and  Houlden H and  Taylor RW and  Newman WG and  O'Keefe RT.},
  year = {2026},
  journal = {Neurogenetics},
  doi = {10.1007/s10048-026-00892-5},
  url = {https://doi.org/10.1007/s10048-026-00892-5}
}

RIS

TY  - JOUR
TI  - Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.
AU  - Lai KL
AU  -  Smith TB
AU  -  Maroofian R
AU  -  Zaki MS
AU  -  Ramadesikan S
AU  -  Reynolds T
AU  -  Koboldt DC
AU  -  Hunter JM
AU  -  Vidaurre J
AU  -  Atanasova M
AU  -  Marsden BD
AU  -  Yue WW
AU  -  Houlden H
AU  -  Taylor RW
AU  -  Newman WG
AU  -  O'Keefe RT.
PY  - 2026
JO  - Neurogenetics
DO  - 10.1007/s10048-026-00892-5
UR  - https://doi.org/10.1007/s10048-026-00892-5
ER  -

APA

KL, L., TB, S., R, M., MS, Z., S, R., T, R., DC, K., JM, H., J, V., M, A., BD, M., WW, Y., H, H., RW, T., WG, N., & RT., O. (2026). Expanding the genotypic spectrum of combined oxidative phosphorylation deficiency 54.. Neurogenetics. https://doi.org/10.1007/s10048-026-00892-5

Source records

europe-pmc · retrieved 2026-09-26T11:22:40.277Z