Author:
Aretini Paolo,Mazzanti Chiara Maria,La Ferla Marco,Franceschi Sara,Lessi Francesca,De Gregorio Veronica,Nesti Claudia,Valetto Angelo,Bertini Veronica,Toschi Benedetta,Battini Roberta,Caligo Maria Adelaide
Publisher
Springer Science and Business Media LLC
Subject
Neurology (clinical),General Medicine
Reference16 articles.
1. Ronchi D, Cosi A, Tonduti D, Orcesi S, Bordoni A, Fortunato F, et al. Clinical and molecular features of an infant patient affected by Leigh disease associated to m.14459G>a mitochondrial DNA mutation: a case report. BMC Neurol. 2011;11:85.
2. Lake NJ, Compton AG, Rahman S, Thorburn DR. Leigh syndrome: one disorder, more than 75 monogenic causes. Ann Neurol. 2015;79(2):190-203.
3. Tetreault M, Fahiminiya S, Antonicka H, Mitchell GA, Geraghty MT, Lines M, et al. Whole-exome sequencing identifies novel ECHS1 mutations in Leigh syndrome. Hum Genet. 2015;134:981–91.
4. Ruhoy IS, Saneto RP. The genetics of Leigh syndrome and its implications for clinical practice and risk management. Appl Clin Genet. 2014;7:221–34.
5. Finsterer J. Leigh and Leigh-like syndrome in children and adults. Pediatr Neurol. 2008;39:223–35.
Cited by
13 articles.
订阅此论文施引文献
订阅此论文施引文献,注册后可以免费订阅5篇论文的施引文献,订阅后可以查看论文全部施引文献