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• A multicenter study on Leigh syndrome: disease course and predictors of survival.

  Sofou K, De Coo IF, Isohanni P, Ostergaard E, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, De Angst IB, Lönnqvist T, Pihko H, Mankinen K, Bindoff LA, Tulinius M, Darin N. Sofou K, et al. Orphanet J Rare Dis. 2014 Apr 15;9:52. doi: 10.1186/1750-1172-9-52. Orphanet J Rare Dis. 2014. PMID: 24731534 Free PMC article.
• Clinical exome sequencing reveals a mutation in PDHA1 in Leigh syndrome: A case of a Chinese boy with lethal neuropathy.

  Gong K, Xie L, Wu ZS, Xie X, Zhang XX, Chen JL. Gong K, et al. Mol Genet Genomic Med. 2021 Apr;9(4):e1651. doi: 10.1002/mgg3.1651. Epub 2021 Mar 4. Mol Genet Genomic Med. 2021. PMID: 33661577 Free PMC article.
• Uncommon morphologic characteristics in Leigh's disease.

  Warmuth-Metz M, Hofmann E, Büsse M, Solymosi L. Warmuth-Metz M, et al. AJNR Am J Neuroradiol. 1999 Jun-Jul;20(6):1158-60. AJNR Am J Neuroradiol. 1999. PMID: 10445463 Free PMC article.
• CT scan appearances in Leigh's disease (subacute necrotizing encephalomyelopathy).

  Hall K, Gardner-Medwin D. Hall K, et al. Neuroradiology. 1978;16:48-50. doi: 10.1007/BF00395200. Neuroradiology. 1978. PMID: 740210
• Leukoencephalopathy with swelling in children and adolescents: MRI patterns and differential diagnosis.

  van der Knaap MS, Valk J, Barth PG, Smit LM, van Engelen BG, Tortori Donati P. van der Knaap MS, et al. Neuroradiology. 1995 Nov;37(8):679-86. doi: 10.1007/BF00593394. Neuroradiology. 1995. PMID: 8748906