Author:
Diodato Daria,Invernizzi Federica,Lamantea Eleonora,Fagiolari Gigliola,Parini Rossella,Menni Francesca,Parenti Giancarlo,Bollani Lina,Pasquini Elisabetta,Donati Maria A.,Cassandrini Denise,Santorelli Filippo M.,Haack Tobias B.,Prokisch Holger,Ghezzi Daniele,Lamperti Costanza,Zeviani Massimo
Publisher
Springer Berlin Heidelberg
Reference27 articles.
1. Atay Z, Bereket A, Turan S et al (2013) A novel homozygous TMEM70 mutation results in congenital cataract and neonatal mitochondrial encephalo-cardiomyopathy. Gene 15:197–199
2. Barrientos A, Fontanesi F, Diaz F (2009) Evaluation of the mitochondrial respiratory chain and oxidative phosphorylation system using polarography and spectrophotometric enzyme assays. Curr Protoc Hum Genet 63:19.3.1–1
3. Bugiani M, Invernizzi F, Alberio S et al (2004) Clinical and molecular findings in children with complex I deficiency. Biochim Biophys Acta 1659:136–147
4. Cameron JM, Levandovskiy V, Mackay N et al (2011) Complex V TMEM70 deficiency results in mitochondrial nucleoid disorganization. Mitochondrion 11:191–199
5. Cízková A, Stránecký V, Mayr JA et al (2008) TMEM70 mutations cause isolated ATP synthase deficiency and neonatal mitochondrial encephalocardiomyopathy. Nat Genet 40:1288–1290
Cited by
27 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