Search Results - "STADHOUDERS, A. M"

Mitochondrial Creatine Kinase: A Major Constituent of Pathological Inclusions Seen in Mitochondrial Myopathies by Stadhouders, Ad M., Paul H. K. Jap, Winkler, Hans-Peter, Eppenberger, Hans M., Wallimann, Theo

“…Overaccumulation of abnormally organized mitochondria in so-called "ragged-red" skeletal muscle fibers is a morphological hallmark of mitochondrial myopathies,…”
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Differential investigation of the capacity of succinate oxidation in human skeletal muscle by Fischer, J C, Ruitenbeek, W, Berden, J A, Trijbels, J M, Veerkamp, J H, Stadhouders, A M, Sengers, R C, Janssen, A J

“…Procedures are described for the estimation of the succinate:ubiquinone oxidoreductase and succinate:phenazine methosulfate oxidoreductase activities in…”
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A retrospective study of patients with the hereditary syndrome of congenital cataract, mitochondrial myopathy of heart and skeletal muscle and lactic acidosis by VAN EKEREN, G. J, STADHOUDERS, A. M, SMEITINK, J. A. M, SENGERS, R. C. A

“…The objectives of this study were to describe the course of two forms of an hereditary syndrome characterised by congenital cataract, mitochondrial myopathy of…”
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A mitochondrial encephalomyopathy: the first case with an established defect at the level of coenzyme Q by FISCHER, J. C, RUITENBEEK, W, GABREELS, F. J. M, JANSSEN, A. J. M, RENIER, W. O, SENGERS, R. C. A, STADHOUDERS, A. M, LAAK, H. J. T, TRIJBELS, J. M. F, VEERKAMP, J. H

“…A patient is presented who had therapy-resistant epileptic seizures from the 7th day of life. Examination at the age of 17 months revealed a mentally retarded…”
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Lipid peroxidation in homocysteinaemia by Blom, H. J., Engelen, D. P. E., Boers, G. H. J., Stadhouders, A. M., Sengers, R. C. A., Abreu, R., TePoele‐Pothoff, M. T. W. B., Trijbels, J. M. F.

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Mitochondrial myopathies clinical, morphological and biochemical aspects by SENGERS, R. C. A, STADHOUDERS, A. M, TRIJBELS, J. M. F

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Differentiation of human skeletal muscle cells in culture : maturation as indicated by titin and desmin striation by VAN DER VEN, P. F. M, SCHAART, G, JAP, P. H. K, SENGERS, R. C. A, STADHOUDERS, A. M, RAMAEKERS, F. C. S

“…This report describes a phenotyping study of differentiating human skeletal muscle cells in tissue culture. Satellite cells (adult myoblasts), isolated from…”
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Axilla skin biopsy: a reliable test for the diagnosis of Lafora's disease by Busard, H L, Gabreëls-Festen, A A, Renier, W O, Gabreëls, F J, Stadhouders, A M

“…Skin biopsies from the axilla were examined in 7 patients with clinical signs and symptoms of Lafora's disease, in 9 relatives (7 parents and 2 siblings), and…”
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Immunophenotyping of congenital myopathies: disorganization of sarcomeric, cytoskeletal and extracellular matrix proteins by Van Der Ven, Peter F.M., Jap, Paul H.K., Ter Laak, Henk J., Nonaka, Ikuya, Barth, Peter G., Sengers, Rob C.A., Stadhouders, Ad M., Ramaekers, Frans C.S.

“…We have studied the expression and distribution patterns of the intermediate filament proteins desmin and vimentin, the sarcomere components titin, nebulin and…”
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Changes in volume densities and distribution of mitochondria in rat skeletal muscle after chronic hypoxia by VAN EKEREN, G. J, SENGERS, R. C.A, STADHOUDERS, A. M

“…In order to test the hypothesis that subsarcolemmal aggregation of skeletal muscle mitochondria, as noted in some patients with mitochondrial myopathies, is…”
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Fatal neonatal cardiomyopathy associated with cataract and mitochondrial myopathy by SMEITINK, J. A. M, SENGERS, R. C. A, TRIJBELS, J. M. F, RUITENBEEK, W, DANIELS, O, STADHOUDERS, A. M, HOCK-JANSEN, M. J. H

“…Three patients suffering from the neonatal form of a syndrome characterized by congenital cataract, hypertrophic cardiomyopathy, and mitochondrial myopathy are…”
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Morphological observations in skeletal muscle from patients with a mitochondrial myopathy by Stadhouders, A. M., Sengers, R. C. A.

“…Mitochondrial metabolic dysfunction is considered to be the cause of certain congenital myopathies and a number of multisystem disorders in humans. The…”
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Mitochondrial myopathy with lactic acidaemia, Fanconi-De Toni-Debré syndrome and a disturbed succinate: cytochrome c oxidoreductase activity by SPERL, W, RUITENBEEK, W, TRIJBELS, J. M. F, SENGERS, R. C. A, STADHOUDERS, A. M, GUGGENBICHLER, J. P

“…A patient with severe muscular hypotonia, failure to thrive, a metabolic acidosis and a renal tubular dysfunction is presented. The disease followed a fatal…”
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Hypertrophic cardiomyopathy associated with a mitochondrial myopathy of voluntary muscles and congenital cataract by Sengers, R C, Stadhouders, A M, van Lakwijk-Vondrovicova, E, Kubat, K, Ruitenbeek, W

“…Structurally abnormal mitochondria were found in skeletal muscle cells from a woman with hypertrophic cardiomyopathy and myopathy of voluntary muscles…”
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Estimation of NADH oxidation in human skeletal muscle mitochondria by Fischer, J C, Ruitenbeek, W, Trijbels, J M, Veerkamp, J H, Stadhouders, A M, Sengers, R C, Janssen, A J

“…Assay procedures are described for the detection of defects in the process of NADH oxidation by the respiratory chain in human skeletal muscle biopsy…”
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A mitochondrial encephalomyopathy with a partial cytochrome c oxidase deficiency of muscle by Van Erven, P M, Gabreëls, F J, Ruitenbeek, W, Renier, W O, Ter Laak, H J, Stadhouders, A M

“…A 16 year old girl showed delayed psychomotor development. In infancy, exercise intolerance, cerebellar signs, deteriorated with increasing intercurrent…”
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A mitochondrial myopathy with a defective respiratory chain and carnitine deficiency by SENGERS, R. C. A, FISCHER, J. C, TRIJBELS, J. M. F, RUITENBEEK, W, STADHOUDERS, A. M, TERLAAK, H. J, JASPAR, H. H. J

“…A boy presented suffering from generalised weakness, exercise intolerance and lactic acidosis. The weakness became evident at 2 years. A cerebral CT-scan…”
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attachment of filamentous segmented micro-organisms to the distal ileum wall of the mouse: a scanning and transmission electron microscopy study by Koopman, J.P, Stadhouders, A.M, Kennis, H.M, Boer, H. de

“…Scanning electron micrographs are presented of the ileal epithelium of mice aged 5, 15, 20 and 25 days. During this period the villous pattern develops to full…”
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Investigation of mitochondrial metabolism in small human skeletal muscle biopsy specimens. Improvement of preparation procedure by Fischer, J C, Ruitenbeek, W, Stadhouders, A M, Trijbels, J M, Sengers, R C, Janssen, A J, Veerkamp, J H

“…A method is presented which allows the investigation of almost the complete mitochondrial content of small human skeletal muscle biopsy specimens. Thorough…”
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Secondary mitochondrial pathology by Sengers, R. C. A., Stadhouders, A. M.

“…A considerable number of myopathies seem to involve the mitochondria but the various causes may be situated outside the mitochondria. These can be categorized…”
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