Zobrazeno 1 - 10 of 19 pro vyhledávání: '"Energievoorziening in de menselijke spier onder fysiologische en pathologische condities"'
1
Infantile fibre type disproportion, myofibrillar lysis and cardiomyopathy: a disorder in three unrelated Dutch families
Autor: Ronald J.A. Wanders, Joan van Moorsel, Peter G. Barth, Wim Ruitenbeek, Koert P. Dingemans, Hans R. Scholte, Marinus Duran, Hans van der Harten, Charles R. Roe
Publikováno v: Neuromuscular disorders, 8(5), 296-304. Elsevier Limited
Neuromuscular Disorders, 8, 296-304
Neuromuscular Disorders, 8, pp. 296-304
Neuromuscular Disorders, 8, 296-304. Elsevier Ltd.
An apparently new cardioskeletal myopathy is reported in three unrelated families. Five infants were affected by rapidly progressive generalized muscle weakness, with onset shortly after birth, and dilated cardiomyopathy. All had generalized tremor (
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::76775952a86cce128ec96c6ee9cff283
https://pure.eur.nl/en/publications/7cba0a96-89c7-49ce-a786-d79fe27d0d4f
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2
Use of gene targeting for compromising energy homeostasis in neuro-muscular tissues: The role of sarcomeric mitochondrial creatine kinase
Autor: J.M.A. van Deursen, M.L.P. Brückwilder, Arend Heerschap, J.C.M. Koudijs, Benjamin Perryman, Dirk Pette, Karen Steeghs, B. Wieringa, Frank Oerlemans, Paul H.K. Jap, A.F.J. de Haan, Wim Ruitenbeek
Publikováno v: Journal of Neuroscience Methods, 71, 29-41. Elsevier
Journal of Neuroscience Methods, 71, 1, pp. 29-41
Journal of Neuroscience Methods, 71, 29-41
Steeghs, K, Heerschap, A, de Haan, A, Ruitenbeek, W, Oerlemans, F, Deursen, J, Perryman, B, Pette, D, Br|ckwilder, M, Koudijs, J, Jap, P & Wieringa, B 1997, ' Use of gene targeting for compromising energy homeostasis in neuromuscular tissues:The role of sarcomeric mitochondrial creatine kinase ', Journal of Neuroscience Methods, vol. 71, pp. 29-41 . https://doi.org/10.1016/S0165-0270(96)00124-0
Journal of Neuroscience Methods, 71, pp. 29-41
We have introduced a single knock-out mutation in the mitochondrial creatine kinase gene (ScCKmit) in the mouse germ line via targeted mutagenesis in mouse embryonic stem (ES) cells. Surprisingly, ScCKmit -/- muscles, unlike muscles of mice with a de
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::d426a4028c2686ff0ba6b416f176c7ed
https://doi.org/10.1016/s0165-0270(96)00124-0
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3
Mutation analysis of the pyruvate dehydrogenase E1α gene in eight patients with a pyruvate dehydrogenase complex deficiency
Autor: Ingeborg Liebaers, D. Chaigne, L. De Meirleir, Wim Ruitenbeek, Sara Seneca, Willy Lissens, O. P. van Diggelen, B. T. Poll-The, Vincent Ramaekers, C Benelli, Cécile Marsac, Paz Briones
Publikováno v: Human Mutation, 7, 46-51
Human mutation, 7(1), 46-51. Wiley-Liss Inc.
Vrije Universiteit Brussel
Human Mutation, 7, 1, pp. 46-51
Human Mutation, 7, pp. 46-51
Most of the mutations causing deficiency of the pyruvate dehydrogenase (PDH) complex are in the X-linked E ^ gene. We have developed a rapid screening method for the detection of mutations in this gene using reverse transcription of total RNA, polyme
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::24e1ad177c6899404075abf4d9f7b43f
https://doi.org/10.1002/(sici)1098-1004(1996)7:1<46::aid-humu6>3.3.co
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4
Positron emission tomography and magnetic resonance spectroscopy of cerebral glycolysis in children with congenital lactic acidosis
Autor: Harald Kugel, W. Ruitenbeek, Klaus Wienhard, Bernhard Roth, W.-D. Heiss, Walter Heindel, D. B. Duncan, Karl Herholz
Publikováno v: Annals of Neurology, 37, 3, pp. 351-358
Annals of Neurology, 37, 351-358
Annals of Neurology, 37, pp. 351-358
Congenital lactic acidosis with neurological symptoms may be due to a variety of disorders of energy metabolism. We investigated whether positron emission tomography (PET) and proton magnetic resonance spectroscopy (1H MRS) are capable of demonstrati
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::db68641f2bd98d3c5c54efc29df1a818
https://doi.org/10.1002/ana.410370311
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5
Congenital lactic acidemia caused by lipoamide dehydrogenase deficiency with favorable outcome
Autor: N. Amir, Orly Elpeleg, W. Ruitenbeek, V. Barash, C. Jakobs, Darryl C. De Vivo
Publikováno v: Journal of Pediatrics, 126, 1, pp. 72-74
Journal of Pediatrics, 126, 72-74
Journal of Pediatrics, 126, pp. 72-74
A 5-year-old boy had recurrent vomiting and lethargy with lacticacidemia and ketoacidemia since birth. Lipoamide dehydrogenase deficiency was found in muscle and fibroblasts. Therapy with sodium dichloroacetate, thiamine, and carnitine was associated
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::7e764edd2149eeb9ceb6ec84681f24f3
https://hdl.handle.net/2066/255764
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8
Multicore myopathy with restrictive cardiomyopathy
Autor: H.J. ter Laak, A.M. van Oort, R. C. A. Sengers, Michèl A.A.P. Willemsen, Fons J. M. Gabreëls
Publikováno v: Acta Paediatrica, 86, 1271-1274
Acta Paediatrica, 86, pp. 1271-1274
Acta Paediatrica, 86, 11, pp. 1271-1274
A 10-y-old girl is presented who suffered mild muscular weakness and exercise intolerance from the age of 1 y onwards, with progression appearing from the age of about 8 y. Multicore myopathy and restrictive cardiomyopathy were diagnosed. Literature
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::8f84e7edae40abbd07a452920bf523e3
https://pubmed.ncbi.nlm.nih.gov/9401528
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9
Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies
Autor: Frank Oerlemans, Jolande Koudijs, Karen Steeghs, Benjamin Perryman, Paul H.K. Jap, Arnold de Haan, Arend Heerschap, Dirk Pette, Bé Wieringa, Jan van Deursen, Wim Ruitenbeek, Jacques H. Veerkamp, M.L.P. Brückwilder, Carolina R. Jost, A.A.G.M. Benders
Publikováno v: Cell, 89, pp. 93-103
Steeghs, K, Benders, A, Oerlemans, F, de Haan, A, Heerschap, A, Ruitenbeek, W, Jost, C, Deursen, J, Perryman, B, Pette, D, Br|ckwilder, M, Koudijs, J, Jap, P, Veerkamp, J & Wieringa, B 1997, ' Altered Ca2+ responses in muscles with combined mitochondrial and cytosolic creatine kinase deficiencies ', Cell, vol. 89, pp. 93-103 . https://doi.org/10.1016/S0092-8674(00)80186-5
Cell, 89, 93-103
Cell, 89, 93-103. Cell Press
We have blocked creatine kinase (CK)-mediated phosphocreatine (PCr) ⇃ ATP transphosphorylation in skeletal muscle by combining targeted mutations in the genes encoding mitochondrial and cytosolic CK in mice. Contrary to expectation, the PCr level w
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=doi_dedup___::608d01171e0c106c020af839b1749785
https://pubmed.ncbi.nlm.nih.gov/9094718
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10
Maligne hyperthermie als complicatie van anesthesie: aanleg is erfelijk
Autor: Snoeck, M.M.J., Gielen, M.J.M., Sengers, R.C.A., Padberg, G.W.A.M., Iles, D.E.W., Booij, L.H.D.J.
Publikováno v: Nederlands Tijdschrift voor Geneeskunde, 141, 13, pp. 616-619
Nederlands Tijdschrift voor Geneeskunde, 141, pp. 616-619
Nederlands Tijdschrift voor Geneeskunde, 141, 616-619
Contains fulltext : 24358___.PDF (Publisher’s version ) (Open Access)
Externí odkaz: https://explore.openaire.eu/search/publication?articleId=dedup_wf_001::3e3c373c8ea2a367d5ea055c697c1969
https://hdl.handle.net/2066/24356
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