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mutation mitochondrial patient protein mtdna activity muscle control analysis carrier genet study expression i activity subject group syndrome function disease oocyte table family t 2dm patients ficiency level subunit mitochondria leigh syndrome acad 9 netherland article blood oxidative haplogroup change ndufa exercise .3243a leigh training result sequence assembly process downloaded m .3243a mutation melas syndrome chchd cause chchd 10 p.a 467t mutation oxpho synthesis leber blood lymphocytes maastricht disorder effect lymphocytes diabetes concentration neuropathy variant department failure tissue genetic t 2dm subjects method mutation carriers smeet polg mutations exercise training fi bers identi value defect broblast jmg.bmj.com complement
10 Most Recent Publications
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Physical activity is the key determinant of skeletal muscle mitochondrial function in type 2 diabetes
(Article)
Tienen, F.H.J. van Praet, S.F.E. Loon, L.J.C. van Feyter, H.M. de Broek, N.M. van den Lindsey, P.J. Schoonderwoerd, K.G.C. Coo, I.F.M. de Nicolay, K. Prompers, J.J. Smeets, H.J. |
2012-09-01
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Defective NDUFA9 as a novel cause of neonatally fatal complex I disease
(Article)
van den Bosch, B.J.C. Gerards, M. Schoonderwoerd, K. Coo, I.F.M. de Smeets, H.J. Sluiter, W. Stegmann, A.P.A. Jongen, E.L.C. Hellebrekers, D.M.E.I. Oegema, R. Lambrichs, E.H. Prokisch, H. Danhauser, K. |
2012-01-01
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Riboflavin-responsive oxidative phosphorylation complex i deficiency caused by defective ACAD9: New function for an old gene
(Article)
Gerards, M. Bosch, B.J. van den Prokisch, H. Rötig, A. Coo, I.F.M. de Smeets, H.J. Danhauser, K. Serre, V. Weeghel, M. van Wanders, R.J.A. Nicolaes, G.A.F. Sluiter, W. Schoonderwoerd, K. Scholte, H.R. |
2011-01-01
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Functional annotation of heart enriched mitochondrial genes GBAS and CHCHD10 through guilt by association
(Article)
Martherus, R.S.R.M. Sluiter, W. Timmer, E.D.J. VanHerle, S.J.V. Smeets, H.J. Ayoubi, T.A.Y. |
2010-11-12
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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome
(Article)
Gerards, M. Sluiter, W. Hendrickx, A. Coo, I.F.M. de Smeets, H.J. Bosch, B.J. van den Wit, L.E.A. de Calis, C. Frentzen, M. Akbari, H. Schoonderwoerd, K. Scholte, H.R. Jongbloed, R.J. |
2010-08-01
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Patients with Leber hereditary optic neuropathy fail to compensate impaired oxidative phosphorylation
(Article)
Korsten, A. Coo, I.F.M. de Spruijt, L. Wit, L.E.A. de Smeets, H.J. Sluiter, W. |
2010-02-01
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The unfolding clinical spectrum of POLG mutations
(Article)
Blok, M.J. Bosch, B.J. van den Coo, I.F.M. de Smeets, H.J. Jongen, E. Hendrickx, A. Die-Smulders, C. de Hoogendijk, J.E. Brusse, E. Visser, M. de Poll-The, B.T. Bierau, J. |
2009-11-01
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Termination of damaged protein repair defines the occurrence of symptoms in carriers of the m.3243A>G tRNALeu mutation
(Article)
Eijsden, R.G.E. van Eijssen, L.M.T. Smeets, H.J. Lindsey, P.J. Burg, C.M. van den Wit, L.E.A. de Rubio-Gozalbo, M.E. Die, C.E.M. de Ayoubi, T.A.Y. Sluiter, W. Coo, I.F.M. de |
2008-08-01
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A simplified and reliable assay for complex I in human blood lymphocytes
(Article)
Wit, L.E.A. de Spruijt, L. Schoonderwoerd, G.C. Coo, I.F.M. de Smeets, H.J. Scholte, H.R. Sluiter, W. |
2007-09-30
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Clinical expression of leber hereditary optic neuropathy is affected by the mitochondrial DNA-haplogroup background
(Article)
Hudson, G. Carelli, V. Valentino, M.L. Huoponen, K. Savontaus, M.-L. Nikoskelainen, E. Sadun, A.A. Salomao, S.R. Belfort Jr., R. Griffiths, P. Man, P.Y.W. Coo, R.F. de Spruijt, L. Horvath, R. Zeviani, M. Smeets, H.J. Torroni, A. Chinnery, P.F. Gerards, M. Mowbray, C. Achilli, A. Pyle, A. Elson, J. Howell, N. La Morgia, C. |
2007-08-01
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