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- Leigh syndrome: one disorder, more than 75 monogenic causes.Ann. Neurol. 2016; 79: 190-203https://doi.org/10.1002/ana.24551
- A guide to diagnosis and treatment of Leigh syndrome.J. Neurol. Neurosurg. Psychiatry. 2014; 85: 257-265https://doi.org/10.1136/jnnp-2012-304426
- Widening the heterogeneity of Leigh syndrome: clinical, biochemical, and neuroradiologic features in a patient harboring a NDUFA10 mutation.JIMD Reports. 2017; 37: 37-43https://doi.org/10.1007/8904_2017_9
- NDUFA10 mutations cause complex i deficiency in a patient with Leigh disease.Eur. J. Hum. Genet. 2011; 19: 270-274https://doi.org/10.1038/ejhg.2010.204
- Mutation screening of 75 candidate genes in 152 complex I deficiency cases identifies pathogenic variants in 16 genes including NDUFB9.J. Med. Genet. 2012; 49: 83-89https://doi.org/10.1136/jmedgenet-2011-100577