المؤلفون: Mills, Philippa B., Footitt, Emma J., Mills, Kevin A., Tuschl, Karin, Aylett, Sarah, Varadkar, Sophia, Hemingway, Cheryl, Marlow, Neil, Rennie, Janet, Baxter, Peter, Dulac, Olivier, Nabbout, Rima, Craigen, William J., Schmitt, Bernhard, Feillet, François, Christensen, Ernst, De Lonlay, Pascale, Pike, Mike G., Hughes, M. Imelda, Struys, Eduard A., Jakobs, Cornelis, Zuberi, Sameer M., Clayton, Peter T.

مصطلحات موضوعية: Original Articles

وصف الملف: text/html

العلاقة: http://brain.oxfordjournals.org/cgi/content/short/133/7/2148Test; http://dx.doi.org/10.1093/brain/awq143Test

الإتاحة: https://doi.org/10.1093/brain/awq143Test
http://brain.oxfordjournals.org/cgi/content/short/133/7/2148Test

المؤلفون: Mills, Philippa B, Camuzeaux, Stephane S M, Footitt, Emma J, Mills, Kevin A, Gissen, Paul, Fisher, Laura, Das, Krishna B, Varadkar, Sophia M, Zuberi, Sameer, McWilliam, Robert, Stödberg, Tommy, Plecko, Barbara, Baumgartner, Matthias R, Maier, Oliver, Calvert, Sophie, Riney, Kate, Wolf, Nicole I, Livingston, John H, Bala, Pronab, Morel, Chantal F, Feillet, François, Raimondi, Francesco, Del Giudice, Ennio, Chong, W Kling, Pitt, Matthew, Clayton, Peter T

المساهمون: University of Zurich, Clayton, Peter T, UCL Institute of Child Health, Great Ormond Street Hospital for Children [London] (GOSH), Royal Hospital for Sick Children, Glasgow, Astrid Lindgren Children's Hospital, Karolinska University Hospital [Stockholm], University Children’s Hospital Zurich, Department of Child Neurology, Development and Rehabilitation [Hospital of Eastern Switzerland], Children's Hospital of Eastern Switzerland St.Gallen, Mater Children's Private Hospital [Brisbane], Dept. of Neurology, VU University Medical Center, Children's Hospital of Leeds, Airedale General Hospital NHS Foundation Trust, University Health Network, Centre Hospitalier Régional Universitaire de Nancy (CHRU Nancy), Centre de référence des maladies héréditaires du métabolisme (MaMEA Nancy-Brabois), Nutrition-Génétique et Exposition aux Risques Environnementaux (NGERE), Institut National de la Santé et de la Recherche Médicale (INSERM)-Université de Lorraine (UL), 'Federico II' University of Naples Medical School, Pediatric surgery, NCA - Brain mechanisms in health and disease, P. B., Mill, S. S. M., Camuzeaux, E. J., Footitt, K. A., Mill, P., Gissen, L., Fisher, K. B., Da, S. M., Varadkar, S., Zuberi, R., Mcwilliam, T., Stodberg, B., Plecko, M. R., Baumgartner, O., Maier, S., Calvert, K., Riney, N. I., Wolf, J. H., Livingston, P., Bala, C. F., Morel, F., Feillet, Raimondi, Francesco, DEL GIUDICE, Ennio, W. K., Chong, M., Pitt, P. T., Clayton

المصدر: Mills, P B, Camuzeaux, S S M, Footitt, E J, Mills, K A, Gissen, P, Fisher, L, Das, K B, Varadkar, S M, Zuberi, S, McWilliam, R, Stodberg, T, Plecko, B, Baumgartner, M R, Maier, O, Calvert, S, Riney, K, Wolf, N I, Livingston, J H, Bala, P, Morel, C F, Feillet, F, Raimondi, F, Del Giudice, E, Chong, W K, Pitt, M & Clayton, P T 2014, ' Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome ', Brain, vol. 137, pp. 1350-1360 . https://doi.org/10.1093/brain/awu051Test
Brain
Brain-A Journal of Neurology
Brain-A Journal of Neurology, Oxford University Press (OUP), 2014, 137 (5), pp.1350-1360. ⟨10.1093/brain/awu051⟩
Brain, 137, 1350-1360. Oxford University Press

مصطلحات موضوعية: Male, [SDV]Life Sciences [q-bio], chemical and pharmacologic phenomena, 610 Medicine & health, Environment, Transfection, Young Adult, immune system diseases, Humans, Child, pyridoxine, seizures, Epilepsy, pyridoxal 5’-phosphate (PLP), food and beverages, Infant, pyridox(am)ine 5’-phosphate oxidase (PNPO), Electroencephalography, Original Articles, Pyridoxaminephosphate Oxidase, nervous system diseases, 2728 Neurology (clinical), 10036 Medical Clinic, Child, Preschool, Pyridoxal Phosphate, Mutation, Mutagenesis, Site-Directed, lipids (amino acids, peptides, and proteins), Anticonvulsants, Female, HeLa Cells

وصف الملف: Brain-2014-Mills-brain_awu051.pdf - application/pdf

الوصول الحر: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::32a23f3d512a09839e593e237bb2655fTest
https://doi.org/10.5167/uzh-94354Test