The DOI matches its Crossref record; 21 of the 21 references it cites were found in a registry or an index.
Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations
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Citations
Cites
Metabolism and function of coenzyme Q
Turunen, M., Olsson, J., & Dallner, G. (2004) · Biochimica et Biophysica Acta (BBA) - Biomembranes · doi:10.1016/j.bbamem.2003.11.012 · Cited by 1,026
Muscle coenzyme Q deficiency in familial mitochondrial encephalomyopathy.
Ogasahara, S., Engel, A. G., Frens, D., & Mack, D. (1989) · Proceedings of the National Academy of Sciences · doi:10.1073/pnas.86.7.2379 · Cited by 366
Quinone-responsive multiple respiratory-chain dysfunction due to widespread coenzyme Q10 deficiency
Rötig, A., Appelkvist, E.-L., Geromel, V., Chretien, D., Kadhom, N., Edery, P., Lebideau, M., Dallner, G., Munnich, A., Ernster, L., et al. (2000) · The Lancet · doi:10.1016/s0140-6736(00)02531-9 · Cited by 356
Quinzii, C., Naini, A., Salviati, L., Trevisson, E., Navas, P., DiMauro, S., & Hirano, M. (2006) · The American Journal of Human Genetics · doi:10.1086/500092 · Cited by 353
Self-citationFamilial cerebellar ataxia with muscle coenzyme Q10 deficiency
Musumeci, O., Naini, A., Slonim, A. E., Skavin, N., Hadjigeorgiou, G. L., Krawiecki, N., Weissman, B. M., Tsao, C.-Y., Mendell, J. R., Shanske, S., et al. (2001) · Neurology · doi:10.1212/wnl.56.7.849 · Cited by 252
Self-citationCerebellar ataxia and coenzyme Q10 deficiency
Lamperti, C., Naini, A., Hirano, M., De Vivo, D. C., Bertini, E., Servidei, S., Valeriani, M., Lynch, D., Banwell, B., Berg, M., et al. (2003) · Neurology · doi:10.1212/01.wnl.0000055089.39373.fc · Cited by 206
Self-citationInfantile encephalomyopathy and nephropathy with CoQ10 deficiency: A CoQ10-responsive condition
Salviati, L., Sacconi, S., Murer, L., Zacchello, G., Franceschini, L., Laverda, A. M., Basso, G., Quinzii, C., Angelini, C., Hirano, M., et al. (2005) · Neurology · doi:10.1212/01.wnl.0000172859.55579.a7 · Cited by 197
Self-citationMitochondrial encephalomyopathy with coenzyme Q 10 deficiency
Sobreira, C., Hirano, M., Shanske, S., Keller, R. K., Haller, R. G., Davidson, E., Santorelli, F. M., Miranda, A. F., Bonilla, E., Mojon, D. S., et al. (1997) · Neurology · doi:10.1212/wnl.48.5.1238 · Cited by 194
Self-citationCoenzyme Q deficiency and cerebellar ataxia associated with an aprataxin mutation
Quinzii, C. M., Kattah, A. G., Naini, A., Akman, H. O., Mootha, V. K., DiMauro, S., & Hirano, M. (2005) · Neurology · doi:10.1212/01.wnl.0000150588.75281.58 · Cited by 171
Self-citationBiosynthesis, Bioproduction and Novel Roles of Ubiquinone.
Kawamukai, M. (2002) · Journal of Bioscience and Bioengineering · doi:10.1016/s1389-1723(02)80188-8 · Cited by 151
Cited by
Ferroptosis: Mechanisms and links with diseases
Yan, H.-F., Zou, T., Tuo, Q.-Z., Xu, S., Li, H., Belaidi, A. A., & Lei, P. (2021) · Signal Transduction and Targeted Therapy · doi:10.1038/s41392-020-00428-9 · Cited by 1,471
Mitochondrial Disorders in the Nervous System
DiMauro, S., & Schon, E. A. (2008) · Annual Review of Neuroscience · doi:10.1146/annurev.neuro.30.051606.094302 · Cited by 536
Self-citationCoenzyme Q10 restores oocyte mitochondrial function and fertility during reproductive aging
Ben‐Meir, A., Burstein, E., Borrego‐Alvarez, A., Chong, J., Wong, E., Yavorska, T., Naranian, T., Chi, M., Wang, Y., Bentov, Y., et al. (2015) · Aging Cell · doi:10.1111/acel.12368 · Cited by 469
COQ6 mutations in human patients produce nephrotic syndrome with sensorineural deafness
Heeringa, S. F., Chernin, G., Chaki, M., Zhou, W., Sloan, A. J., Ji, Z., Xie, L. X., Salviati, L., Hurd, T. W., Vega-Warner, V., et al. (2011) · Journal of Clinical Investigation · doi:10.1172/jci45693 · Cited by 398
Mitochondrial dysfunction in inherited renal disease and acute kidney injury
Emma, F., Montini, G., Parikh, S. M., & Salviati, L. (2016) · Nature Reviews Nephrology · doi:10.1038/nrneph.2015.214 · Cited by 398
Metadata
- Authors
- López, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M.
- Venue
- The American Journal of Human Genetics
- Publisher
- Elsevier BV
- Published
- 2006-12
- Volume
- 79
- Issue
- 6
- Pages
- 1125-1129
- ISSN
- 0002-9297 (ISSN-L)
- OpenAlex
- W2002927783
- Cited by
- 395
- References
- 21
- FWCI
- 8.47
- Type
- journal article
- Language
- en
- Open access
- bronze
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- This page
- CoChat. (2026). Citation check: Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations. https://app.cochat.ai/papers/10.1086/510023
- The paper
- López, L. C., Schuelke, M., Quinzii, C. M., Kanki, T., Rodenburg, R. J. T., Naini, A., DiMauro, S., & Hirano, M. (2006). Leigh Syndrome with Nephropathy and CoQ10 Deficiency Due to decaprenyl diphosphate synthase subunit 2 (PDSS2) Mutations. The American Journal of Human Genetics. https://doi.org/10.1086/510023
Data sources
Bibliographic data: Semantic Scholar, OpenAlex, Crossref.
Contains information from the Semantic Scholar Academic Graph Datasets, made available under the ODC Attribution License (ODC-BY 1.0).
Semantic Scholar’s data is described in: Kinney, R., et al. (2023). The Semantic Scholar Open Data Platform. arXiv:2301.10140.
