Functional and genetic studies demonstrate that mutation in the COX15 gene can cause Leigh syndrome
Oquendo, C E, Antonicka, H, Shoubridge, E A, Reardon, W, Brown, G K
Published in Journal of medical genetics (01.07.2004)
Published in Journal of medical genetics (01.07.2004)
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Systemic microangiopathy in Leber's hereditary optic neuropathy with nt 13708 and nt 3394 mutations
Lach, B, Mount, J, Shoubridge, E, Kosabek-Williams, B, Lee, F, Silva, V
Published in Neuromuscular disorders : NMD (01.10.2016)
Published in Neuromuscular disorders : NMD (01.10.2016)
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SURF1 , encoding a factor involved in the biogenesis of cytochrome c oxidase, is mutated in Leigh syndrome
Shoubridge, Eric A, Zhu, Zhiqing, Yao, Jianbo, Johns, Timothy, Fu, Katherine, Bie, Isabelle De, Macmillan, Carol, Cuthbert, Andrew P, Newbold, Robert F, Wang, Jia-chi, Chevrette, Mario, Brown, Garry K, Brown, Ruth M
Published in Nature genetics (01.12.1998)
Published in Nature genetics (01.12.1998)
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Random genetic drift in the female germline explains the rapid segregation of mammalian mitochondrial DNA
Fu, Katherine, Shoubridge, Eric A, Jenuth, Jack P, Peterson, Alan C
Published in Nature genetics (01.10.1996)
Published in Nature genetics (01.10.1996)
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PP03.4 – 2660: Recurrent metabolic crises and mitochondrial encephalocardiomyopathy due to mutations in LRPPRC
Isohanni, P, Linnankivi, T, Honarmand, S, Lapatto, R, Lönnqvist, T, Shoubridge, E, Wartiovaara, A. Suomalainen
Published in European journal of paediatric neurology (01.05.2015)
Published in European journal of paediatric neurology (01.05.2015)
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Gene Shifting: A Novel Therapy for Mitochondrial Myopathy
Taivassalo, Tanja, Fu, Katherine, Johns, Timothy, Arnold, Douglas, Karpati, George, Shoubridge, Eric A.
Published in Human molecular genetics (01.06.1999)
Published in Human molecular genetics (01.06.1999)
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Mitochondrial DNA segregation in the developing embryo
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Conference Proceeding
Homozygosity (E140K) in SCO2 causes delayed infantile onset of cardiomyopathy and neuropathy
Jaksch, M, Horvath, R, Horn, N, Auer, D P, Macmillan, C, Peters, J, Gerbitz, K D, Kraegeloh-Mann, I, Muntau, A, Karcagi, V, Kalmanchey, R, Lochmuller, H, Shoubridge, E A, Freisinger, P
Published in Neurology (23.10.2001)
Published in Neurology (23.10.2001)
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Mutations in COX10 result in a defect in mitochondrial heme A biosynthesis and account for multiple, early-onset clinical phenotypes associated with isolated COX deficiency
Antonicka, Hana, Leary, Scot C., Guercin, Guy-Hellen, Agar, Jeffrey N., Horvath, Rita, Kennaway, Nancy G., Harding, Cary O., Jaksch, Michaela, Shoubridge, Eric A.
Published in Human molecular genetics (15.10.2003)
Published in Human molecular genetics (15.10.2003)
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P02-50 A new cause of GH deficiency: Mutation in the nuclear encoded mitochondrial isoleucyl tRNA-synthetase ( IARS2 ) in 3 patients with severe short stature, cataracts and peripheral neuropathy
Deal, C, Desilets, V, Patry, L, Cavanagh-Papillon, S, Majewski, J, Michaud, J, Shoubridge, E, Samuels, M.E
Published in Growth hormone & IGF research (01.10.2012)
Published in Growth hormone & IGF research (01.10.2012)
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Identification and Characterization of a Common Set of Complex I Assembly Intermediates in Mitochondria from Patients with Complex I Deficiency
Antonicka, Hana, Ogilvie, Isla, Taivassalo, Tanja, Anitori, Roberto P., Haller, Ronald G., Vissing, John, Kennaway, Nancy G., Shoubridge, Eric A.
Published in The Journal of biological chemistry (31.10.2003)
Published in The Journal of biological chemistry (31.10.2003)
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