Citations for
1CMTND1, CMTND2, CMTND3, CMTND4, CMTND6, CMTND7
A common pattern of brain MRI imaging in mitochondrial diseases with complex I deficiency.
Lebre AS, Rio M, Faivre d'Arcier L, Vernerey D, Landrieu P, Slama A, Jardel C, Laforęt P, Rodriguez D, Dorison N, Galanaud D, Chabrol B, Paquis-Flucklinger V, Grévent D, Edvardson S, Steffann J, Funalot B, Villeneuve N, Valayannopoulos V, de Lonlay P, Desguerre I, Brunelle F, Bonnefont JP, Rötig A, Munnich A, Boddaert N.
J Med Genet 48(1):16-23. Epub 2010 Oct 23. 2011
2CMTND1, NDUFS2, NDUFS4, NDUFS7, NDUFS8
Differences in assembly or stability of complex I and other mitochondrial OXPHOS complexes in inherited complex I deficiency.
Ugalde C, Janssen RJ, Van Den Heuvel LP, Smeitink JA, Nijtmans LG.
Hum Mol Genet 13(6):659-67. Epub 2004 Jan 28. 2004
3CMTND1, NDUFS4
Mutations in human nuclear genes encoding for subunits of mitochondrial respiratory complex I: the NDUFS4 gene.
Petruzzella V, Papa S.
Gene 286(1):149-54. Review. 2002
4CMTND1
New familial mitochondrial encephalopathy with macrocephaly, cardiomyopathy, and complex I deficiency.
Dionisi-Vici C, Ruitenbeek W, Fariello G, Bentlage H, Wanders RJ, Schagger H, Bosman C, Piantadosi C, Sabetta G, Bertini E.
Ann Neurol 42(4):661-5. 1997
5CMTND1, NDUFS4
Human diseases with defects in oxidative phosphorylation. 1. Decreased amounts of assembled oxidative phosphorylation complexes in mitochondrial encephalomyopathies.
Bentlage H, de Coo R, ter Laak H, Sengers R, Trijbels F, Ruitenbeek W, Schlote W, Pfeiffer K, Gencic S, von Jagow G, et al.
Eur J Biochem 227(3):909-15. 1995