Search Results - "van den Bosch, B J C"

Defective NDUFA9 as a novel cause of neonatally fatal complex I disease by van den Bosch, B J C, Gerards, M, Sluiter, W, Stegmann, A P A, Jongen, E L C, Hellebrekers, D M E I, Oegema, R, Lambrichs, E H, Prokisch, H, Danhauser, K, Schoonderwoerd, K, de Coo, I F M, Smeets, H J M

“…Mitochondrial disorders are associated with abnormalities of the oxidative phosphorylation (OXPHOS) system and cause significant morbidity and mortality in the…”
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Defective complex I assembly due to C20orf7 mutations as a new cause of Leigh syndrome by Gerards, M, Sluiter, W, van den Bosch, B J C, de Wit, L E A, Calis, C M H, Frentzen, M, Akbari, H, Schoonderwoerd, K, Scholte, H R, Jongbloed, R J, Hendrickx, A T M, de Coo, I F M, Smeets, H J M

“…Leigh syndrome is an early onset, progressive, neurodegenerative disorder with developmental and motor skills regression. Characteristic magnetic resonance…”
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Early and transient gene expression changes in pressure overload-induced cardiac hypertrophy in mice by van den Bosch, B.J.C., Lindsey, P.J., van den Burg, C.M.M., van der Vlies, S.A., Lips, D.J., van der Vusse, G.J., Ayoubi, T.A., Doevendans, P.A., Smeets, H.J.M.

“…Cardiac hypertrophy is an important risk factor for cardiac morbidity and mortality. To unravel the underlying pathogenic genetic pathways, we hybridized left…”
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Altered myocardial gene expression reveals possible maladaptive processes in heterozygous and homozygous cardiac myosin-binding protein C knockout mice by Eijssen, L.M.T., van den Bosch, B.J.C., Vignier, N., Lindsey, P.J., van den Burg, C.M.M., Carrier, L., Doevendans, P.A., van der Vusse, G.J., Smeets, H.J.M.

“…Familial hypertrophic cardiomyopathy (FHC) is an autosomal dominant disease characterized by left ventricular hypertrophy (LVH) predominantly affecting the…”
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Juvenile-onset Alpers syndrome: interpreting MRI findings by Visser, N A, Braun, K P J, van den Bergh, W M, Leijten, F S S, Willems, C R B, Ramos, L, van den Bosch, B J C, Smeets, H J M, Wokke, J H J

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Large scale mtDNA sequencing reveals sequence and functional conservation as major determinants of homoplasmic mtDNA variant distribution by Voets, A M, van den Bosch, B J C, Stassen, A P, Hendrickx, A T, Hellebrekers, D M, Van Laer, L, Van Eyken, E, Van Camp, G, Pyle, A, Baudouin, S V, Chinnery, P F, Smeets, H J M

“…The mitochondrial DNA (mtDNA) is highly variable, containing large numbers of pathogenic mutations and neutral polymorphisms. The spectrum of homoplasmic mtDNA…”
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Mutation analysis of the entire mitochondrial genome using denaturing high performance liquid chromatography by van Den Bosch, B J, de Coo, R F, Scholte, H R, Nijland, J G, van Den Bogaard, R, de Visser, M, de Die-Smulders, C E, Smeets, H J

“…In patients with mitochondrial disease a continuously increasing number of mitochondrial DNA (mtDNA) mutations and polymorphisms have been identified. Most…”
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Two Novel Mutations in the SLC25A4 Gene in a Patient with Mitochondrial Myopathy by Körver-Keularts, I. M. L. W., de Visser, M., Bakker, H. D., Wanders, R. J. A., Vansenne, F., Scholte, H. R., Dorland, L., Nicolaes, G. A. F., Spaapen, L. M. J., Smeets, H. J. M., Hendrickx, A. T. M., van den Bosch, B. J. C.

“…In a 28-year-old male with a mild mitochondrial myopathy manifesting as exercise intolerance and early signs of cardiomyopathy without muscle weakness or…”
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Increased risk for cardiorespiratory failure associated with the A3302G mutation in the mitochondrial DNA encoded tRNALeu(UUR) gene by van den Bosch, B J C, de Coo, I F M, Hendrickx, A T M, Busch, H F M, de Jong, G, Scholte, H R, Smeets, H J M

“…Screening the mitochondrial DNA of a 64-year-old woman with mitochondrial myopathy revealed 76% of the tRNA(Leu(UUR)) A3302G mutation in muscle. Muscle of her…”
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