[Chen L, Cui Y, Jiang D, Ma CY, Tse HF, Hwu WL, Lian Q. Management of Leigh syndrome: Current status and new insights. Clin Gen, Epub ahead of print, 2017.10.1111/cge.13139]Search in Google Scholar
[Gerards M, Sallevelt SC, Smeets HJ. Leigh syndrome: Resolving the clinical and genetic heterogeneity paves the way for treatment options. Mol Genet Metab 117, 300–312, 2016.10.1016/j.ymgme.2015.12.004]Search in Google Scholar
[Guo Y, Ye F, Sheng Q, Clark T, Samuels DC. Three-stage quality control strategies for DNA re-sequencing data. Brief Bioinform 15, 879–889, 2013.10.1093/bib/bbt069]Open DOISearch in Google Scholar
[Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: One disorder, more than 75 monogenic causes. Ann Neurol 79, 190–203, 2016.10.1002/ana.24551]Open DOISearch in Google Scholar
[Lee IC, El-Hattab AW, Wang J, Li FY, Weng SW, Craigen WJ, Wong LJ. SURF1-associated Leigh syndrome: a case series and novel mutations. Hum Mutat 33, 1192–1200, 2012.10.1002/humu.22095]Search in Google Scholar
[Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14, 216–221, 1951.10.1136/jnnp.14.3.216]Open DOISearch in Google Scholar
[Maalej M, Kammoun T, Alila-Fersi O, Kharrat M, Ammar M, Felhi R, Mkaouar-Rebai E, Keskes L, Hachicha M, Fakhfakh F. Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome. Biochem Biophys Res Commun 497, 1043–1048, 2018.10.1016/j.bbrc.2018.02.169]Search in Google Scholar
[Martinelli D, Catteruccia M, Piemonte F, Pastore A, Tozzi G, Dionisi-Vici C, Pontrelli G, Corsetti T, Livadiotti S, Kheifets V, Hinman A, Shrader WD, Thoolen M, Klein MB, Bertini E, Miller G. EPI-743 reverses the progression of the pediatric mitochondrial disease-genetically defined Leigh Syndrome. Mol Genet Metab 107, 383–388, 2012.10.1016/j.ymgme.2012.09.007]Search in Google Scholar
[McLaren W, Gil L, Hunt SE, Riat HS, Ritchie GR, Thormann A, Flicek P, Cunningham F. The Ensembl Variant Effect Predictor. Genome Biol 17, 122, 2016.10.1186/s13059-016-0974-4]Open DOISearch in Google Scholar
[Paila U, Chapman BA, Kirchner R, Quinlan AR. GEMINI: integrative exploration of genetic variation and genome annotations. PLoS Comput Biol 9, e1003153, 2013.10.1371/journal.pcbi.1003153]Search in Google Scholar
[Pecina P, Capkova M, Chowdhury SK, Drahota Z, Dubot A, Vojtiskova A, Hansikova H, Houstkova H, Zeman J, Godinot C, Houstek J. Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome. Biochim Biophys Acta 1639, 53–63, 2003.10.1016/S0925-4439(03)00127-3]Search in Google Scholar
[Pequignot MO, Desguerre I, Dey R, Tartari M, Zeviani M, Agostino A, Benelli C, Fouque F, Prip-Buus C, Marchant D, Abitbol M, Marsac C. New splicing-site mutations in the SURF1 gene in Leigh syndrome patients. J Biol Chem 276, 15326–15329, 2001.10.1074/jbc.M100388200]Search in Google Scholar
[Rahman S, Blok RB, Dahl HH, Danks DM, Kirby DM, Chow CW, Christodoulou J, Thorburn DR. Leigh syndrome: clinical features and biochemical and DNA abnormalities. Ann Neurol 39, 343–351, 1996.10.1002/ana.410390311]Search in Google Scholar
[Skopkova M, Hennig F, Shin BS, Turner CE, Stanikova D, Brennerova K, Stanik J, Fischer U, Henden L, Muller U, Steinberger D, Leshinsky-Silver E, Bottani A, Kurdiova T, Ukropec J, Nyitrayova O, Kolnikova M, Klimes I, Borck G, Bahlo M, Haas SA, Kim JR, Lotspeich-Cole LE, Gasperikova D, Dever TE, Kalscheuer VM. EIF2S3 Mutations Associated with Severe X-Linked Intellectual Disability Syndrome MEHMO. Hum Mutat 38, 409–425, 2017.10.1002/humu.23170]Open DOISearch in Google Scholar
[Sofou K, de Coo IFM, Ostergaard E, Isohanni P, Naess K, De Meirleir L, Tzoulis C, Uusimaa J, Lonnqvist T, Bindoff LA, Tulinius M, Darin N. Phenotype-genotype correlations in Leigh syndrome: new insights from a multicentre study of 96 patients. J Med Genet 55, 21–27, 2018.10.1136/jmedgenet-2017-104891]Open DOISearch in Google Scholar
[Tan A, Abecasis GR, Kang HM. Unified representation of genetic variants. Bioinformatics 31, 2202–2204, 2015.10.1093/bioinformatics/btv112]Open DOISearch in Google Scholar
[Tay SK, Sacconi S, Akman HO, Morales JF, Morales A, De Vivo DC, Shanske S, Bonilla E, DiMauro S. Unusual clinical presentations in four cases of Leigh disease, cytochrome C oxidase deficiency, and SURF1 gene mutations. J Child Neurol 20, 670–674, 2005.10.1177/08830738050200080701]Search in Google Scholar
[Tiranti V, Hoertnagel K, Carrozzo R, Galimberti C, Munaro M, Granatiero M, Zelante L, Gasparini P, Marzella R, Rocchi M, Bayona-Bafaluy MP, Enriquez JA, Uziel G, Bertini E, Dionisi-Vici C, Franco B, Meitinger T, Zeviani M. Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency. Am J Hum Genet 63, 1609–1621, 1998.10.1086/302150]Search in Google Scholar
[Wang J, Raskin L, Samuels DC, Shyr Y, Guo Y. Genome measures used for quality control are dependent on gene function and ancestry. Bioinformatics 31, 318–323, 2015.10.1093/bioinformatics/btu668]Open DOISearch in Google Scholar
[Williams SL, Taanman JW, Hansikova H, Houstkova H, Chowdhury S, Zeman J, Houstek J. A novel mutation in SURF1 causes skipping of exon 8 in a patient with cytochrome c oxidase-deficient Leigh syndrome and hypertrichosis. Mol Genet Metab 73, 340–343, 2001.10.1006/mgme.2001.3206]Search in Google Scholar