Zacytuj

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.13139Search 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.2015.12.004Search 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/bbt069Open 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.24551Open 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.22095Search in Google Scholar

Leigh D. Subacute necrotizing encephalomyelopathy in an infant. J Neurol Neurosurg Psychiatry 14, 216–221, 1951.10.1136/jnnp.14.3.216Open 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.2018.02.169Search 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.2012.09.007Search 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/s13059-016-0974-4Open 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.1003153Search 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)00127-3Search 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.M100388200Search 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.410390311Search 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.23170Open 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-2017-104891Open DOISearch in Google Scholar

Tan A, Abecasis GR, Kang HM. Unified representation of genetic variants. Bioinformatics 31, 2202–2204, 2015.10.1093/bioinformatics/btv112Open 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, 2005.10.1177/08830738050200080701Search 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, 1998.10.1086/302150Search 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/btu668Open 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.2001.3206Search in Google Scholar

eISSN:
1336-0329
Język:
Angielski