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Neurologic phenotypes associated with COL4A1/2 mutations

Autor: Zagaglia, Sara, Selch, Christina, Nisevic, Jelena Radic, Mei, Davide, Michalak, Zuzanna, Hernandez-Hernandez, Laura, Krithika, S., Vezyroglou, Katharina, Varadkar, Sophia M., Pepler, Alexander, Biskup, Saskia, Leão, Miguel, Gärtner, Jutta, Merkenschlager, Andreas, Jaksch, Michaela, Møller, Rikke S., Gardella, Elena, Kristiansen, Britta Schlott, Hansen, Lars Kjærsgaard, Vari, Maria Stella, Helbig, Katherine L., Desai, Sonal, Smith-Hicks, Constance L., Hino-Fukuyo, Naomi, Talvik, Tiina, Laugesaar, Rael, Ilves, Pilvi, Õunap, Katrin, Körber, Ingrid, Hartlieb, Till, Kudernatsch, Manfred, Winkler, Peter, Schimmel, Mareike, Hasse, Anette, Knuf, Markus, Heinemeyer, Jan, Makowski, Christine, Ghedia, Sondhya, Subramanian, Gopinath M., Striano, Pasquale, Thomas, Rhys H., Micallef, Caroline, Thom, Maria, Werring, David J., Kluger, Gerhard Josef, Cross, J. Helen, Guerrini, Renzo, Balestrini, Simona, Sisodiya, Sanjay M.

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=od_______518::06afceb4d4fea087514896cab21961ea
https://mediatum.ub.tum.de/1524485

Epilepsy due to PNPO mutations: genotype, environment and treatment affect presentation and outcome

Autor: 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

Publikováno v: 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/awu051
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

Mutations in PNPO are a known cause of neonatal onset seizures that are resistant to pyridoxine but responsive to pyridoxal phosphate (PLP). Mills et al. show that PNPO mutations can also cause neonatal onset seizures that respond to pyridoxine but w

Externí odkaz: https://explore.openaire.eu/search/publication?articleId=pmid_dedup__::32a23f3d512a09839e593e237bb2655f
https://doi.org/10.5167/uzh-94354

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