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PreviewIssue DateTitleAuthor(s)
2014Mutations in mammalian target of rapamycin regulator DEPDC5 cause focal epilepsy with brain malformationsScheffer, I.; Heron, S.; Regan, B.; Mandelstam, S.; Crompton, D.; Hodgson, B.; Licchetta, L.; Provini, F.; Bisulli, F.; Vadlamudi, L.; Gecz, J.; Connelly, A.; Tinuper, P.; Ricos, M.; Berkovic, S.; Dibbens, L.
2007Bovine mucopolysaccharidosis type IIIBKarageorgos, L.; Hill, B.; Bawden, M.; Hopwood, J.
2012PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndromeHeron, S.; Grinton, B.; Kivity, S.; Afawi, Z.; Zuberi, S.; Hughes, J.; Pridmore, C.; Hodgson, B.; Iona, X.; Sadleir, L.; Pelekanos, J.; Herlenius, E.; Goldberg-Stern, H.; Bassan, H.; Haan, E.; Korczyn, A.; Gardner, A.; Corbett, M.; Gecz, J.; Thomas, P.; et al.
2010Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephalyGiannandrea, M.; Bianchi, V.; Mignogna, M.; Sirri, A.; Carrabino, S.; D'Elia, E.; Vecellio, M.; Russo, S.; Cogliati, F.; Larizza, L.; Ropers, H.; Tzschach, A.; Kalscheuer, V.; Oehl-Jaschkowitz, B.; Skinner, C.; Schwartz, C.; Gecz, J.; Van Esch, H.; Raynaud, M.; Chelly, J.; et al.
2012Ablation of PGC1 beta prevents mTOR dependent endoplasmic reticulum stress responseCamacho, A.; Rodriguez-Cuenca, S.; Blount, M.; Prieur, X.; Barbarroja, N.; Fuller, M.; Hardingham, G.; Vidal-Puig, A.
1999Metabolism of trideuterated iso-lignoceric acid in rats in vivo and in human fibroblasts in culturePoulos, A.; Stockham, P.; Johnson, D.; Paton, B.; Beckman, K.; Singh, H.
1999C160rf5, a novel proline-rich gene at 16p13.3, is highly expressed in the brainBhalla, K.; Eyre, H.; Whitmore, S.; Sutherland, G.; Callen, D.
2011Impact of high-dose, chemically modified sulfamidase on pathology in a murine model of MPS IIIARozaklis, T.; Beard, H.; Hassiotis, S.; Garcia, A.; Tonini, M.; Luck, A.; Pan, J.; Lamsa, J.; Hopwood, J.; Hemsley, K.
1996A 3-year follow-up of the intellectual and academic functioning of children receiving central nervous system prophylactic chemotherapy for leukemiaBrown, R.; Sawyer, M.; Antoniou, G.; Toogood, I.; Rice, M.; Thompson, N.; Madan-Swain, A.
2013Apolipoprotein E and the genetics of cerebral palsy - where to next?O'Callaghan, M.