L
Lambert P. van den Heuvel
Researcher at Radboud University Nijmegen
Publications - 162
Citations - 12962
Lambert P. van den Heuvel is an academic researcher from Radboud University Nijmegen. The author has contributed to research in topics: Gene & Mutation. The author has an hindex of 62, co-authored 156 publications receiving 11987 citations. Previous affiliations of Lambert P. van den Heuvel include The Catholic University of America & University of Oregon.
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Journal ArticleDOI
A second common mutation in the methylenetetrahydrofolate reductase gene: an additional risk factor for neural-tube defects?
Nathalie M.J. van der Put,Fons J. M. Gabreëls,Erik M. B. Stevens,Jan A.M. Smeitink,Frans J.M. Trijbels,Tom K.A.B. Eskes,Lambert P. van den Heuvel,Henk J. Blom +7 more
TL;DR: The data suggest that the combined heterozygosity for the two MTHFR common mutations accounts for a proportion of folate-related NTDs, which is not explained by homozygosity by the 677(C-->T) mutation, and can be an additional genetic risk factor for N TDs.
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The genetics and pathology of oxidative phosphorylation.
TL;DR: The mitochondrial oxidative phosphorylation system is the final biochemical pathway in the production of ATP and improvements in this arena have profited from progress in various genome projects, as well as improvements in the ability to create relevant animal models.
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Spectrophotometric Assay for Complex I of the Respiratory Chain in Tissue Samples and Cultured Fibroblasts
Antoon J.M. Janssen,Frans J.M. Trijbels,Rob C.A. Sengers,Jan A.M. Smeitink,Lambert P. van den Heuvel,Liesbeth T. Wintjes,Berendien J.M. Stoltenborg-Hogenkamp,Richard J. Rodenburg +7 more
TL;DR: This spectrophotometric assay is reproducible, sensitive, and specific for complex I activity because of its high rotenone sensitivity, and it can be applied successfully to the diagnosis of complex I deficiencies.
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The First Nuclear-Encoded Complex I Mutation in a Patient with Leigh Syndrome
Jan Loeffen,Jan A.M. Smeitink,Ralf H. Triepels,R.J.H. Smeets,Markus Schuelke,Rob C.A. Sengers,Frans J.M. Trijbels,Ben C.J. Hamel,Renier Mullaart,Lambert P. van den Heuvel +9 more
TL;DR: The first molecular genetic link between a nuclear-encoded subunit of complex I and Leigh syndrome is described, and two compound heterozygous transitions in a patient with neuropathologically proven Leigh syndrome are described.
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Mitochondrial complex I: structure, function and pathology.
TL;DR: Unravelling the intricate mechanisms underlying the functioning of this membrane-bound enzyme complex in health and disease will pave the way for developing adequate diagnostic procedures and advanced therapeutic treatment strategies.