Browsing "Molecular and Biomedical Science publications" by Author Bahlo, M.

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2010A focal Eeilepsy and intellectual disability syndrome is due to a mutation in TBC1D24Bahlo, M.; Jolly, L.; Afawi, Z.; Gardner, A.; Oliver, K.; Tan, S.; Coffey, A.; Mulley, J.; Dibbens, L.; Simri, W.; Shalata, A.; Kivity, S.; Jackson, G.; Berkovic, S.; Gecz, J.; Corbett, M.
2011A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxiaCorbett, M.; Schwake, M.; Bahlo, M.; Dibbens, L.; Lin, M.; Gandolfo, L.; Vears, D.; O'Sullivan, J.; Robertson, T.; Bayly, M.; Gardner, A.; Vlaar, A.; Korenke, G.; Bloem, B.; de Coo, I.; Verhagen, J.; Lehesjoki, A.; Gecz, J.; Berkovic, S.
2020Eukaryote-conserved methylarginine is absent in diplomonads and functionally compensated in GiardiaEmery-Corbin, S.J.; Hamey, J.J.; Ansell, B.R.E.; Balan, B.; Tichkule, S.; Stroehlein, A.J.; Cooper, C.; McInerney, B.V.; Hediyeh-Zadeh, S.; Vuong, D.; Crombie, A.; Lacey, E.; Davis, M.J.; Wilkins, M.R.; Bahlo, M.; Svard, S.G.; Gasser, R.B.; Jex, A.R.; Russo, C.
2012Proteomic and metabolomic analyses of mitochondrial complex I-deficient mouse model generated by spontaneous B2 short interspersed nuclear element (SINE) insertion into NADH dehydrogenase (ubiquinone) Fe-S protein 4 (Ndufs4) geneLeong, D.; Komen, J.; Hewitt, C.; Arnaud, E.; McKenzie, M.; Phipson, B.; Bahlo, M.; Laskowski, A.; Kinkel, S.; Davey, G.; Heath, W.; Voss, A.; Zahedi, R.; Pitt, J.; Chrast, R.; Sickmann, A.; Ryan, M.; Smyth, G.; Thorburn, D.; Scott, H.