Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Fiorini C, Jurkute N, Torraco A, La Morgia C, Ghezzi D, Tioli G, Rigobello L, Ormanbekova D, Berghella A, Pasti AP, Palombo F, Barboni P, Cascavilla ML, Sadun F, De Negri A, Bertini E, Musumeci O, Ardissone A, Rizza T, Iarossi G, Silvestri G, Rossi S, Altobelli A, Moore AT, Cullup T, Webster AR, Davagnanam I, Michaelides M, Malka S, Ptackova H, Stufkova H, Tesarova M, Liskova P, Zeng L, Klopstock T, Kopajtich R, Neuhofer C, Prokisch H, Lamperti C, Sadun AA, Yu-Wai-Man P, Carelli V, Musiani F, Iommarini L, Carrozzo R, Arno G, Caporali L

Open source

DOI
10.1093/brain/awaf422
Published
2026 Jul 7
Container
Brain : a journal of neurology
Publisher
Not recorded
Open access
yes

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BibTeX

@article{allodium:10.1093/brain/awaf422,
  title = {Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.},
  author = {Fiorini C and Jurkute N and Torraco A and La Morgia C and Ghezzi D and Tioli G and Rigobello L and Ormanbekova D and Berghella A and Pasti AP and Palombo F and Barboni P and Cascavilla ML and Sadun F and De Negri A and Bertini E and Musumeci O and Ardissone A and Rizza T and Iarossi G and Silvestri G and Rossi S and Altobelli A and Moore AT and Cullup T and Webster AR and Davagnanam I and Michaelides M and Malka S and Ptackova H and Stufkova H and Tesarova M and Liskova P and Zeng L and Klopstock T and Kopajtich R and Neuhofer C and Prokisch H and Lamperti C and Sadun AA and Yu-Wai-Man P and Carelli V and Musiani F and Iommarini L and Carrozzo R and Arno G and Caporali L},
  year = {2026},
  journal = {Brain : a journal of neurology},
  doi = {10.1093/brain/awaf422},
  url = {https://doi.org/10.1093/brain/awaf422}
}

RIS

TY  - JOUR
TI  - Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.
AU  - Fiorini C
AU  - Jurkute N
AU  - Torraco A
AU  - La Morgia C
AU  - Ghezzi D
AU  - Tioli G
AU  - Rigobello L
AU  - Ormanbekova D
AU  - Berghella A
AU  - Pasti AP
AU  - Palombo F
AU  - Barboni P
AU  - Cascavilla ML
AU  - Sadun F
AU  - De Negri A
AU  - Bertini E
AU  - Musumeci O
AU  - Ardissone A
AU  - Rizza T
AU  - Iarossi G
AU  - Silvestri G
AU  - Rossi S
AU  - Altobelli A
AU  - Moore AT
AU  - Cullup T
AU  - Webster AR
AU  - Davagnanam I
AU  - Michaelides M
AU  - Malka S
AU  - Ptackova H
AU  - Stufkova H
AU  - Tesarova M
AU  - Liskova P
AU  - Zeng L
AU  - Klopstock T
AU  - Kopajtich R
AU  - Neuhofer C
AU  - Prokisch H
AU  - Lamperti C
AU  - Sadun AA
AU  - Yu-Wai-Man P
AU  - Carelli V
AU  - Musiani F
AU  - Iommarini L
AU  - Carrozzo R
AU  - Arno G
AU  - Caporali L
PY  - 2026
JO  - Brain : a journal of neurology
DO  - 10.1093/brain/awaf422
UR  - https://doi.org/10.1093/brain/awaf422
ER  -

APA

C, F., N, J., A, T., C, L. M., D, G., G, T., L, R., D, O., A, B., AP, P., F, P., P, B., ML, C., F, S., A, D. N., E, B., O, M., A, A., T, R., G, I., G, S., S, R., A, A., AT, M., T, C., AR, W., I, D., M, M., S, M., H, P., H, S., M, T., P, L., L, Z., T, K., R, K., C, N., H, P., C, L., AA, S., P, Y., V, C., F, M., L, I., R, C., G, A., & L, C. (2026). Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.. Brain : a journal of neurology. https://doi.org/10.1093/brain/awaf422

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