Adelaide Research & Scholarship: Search

Search

Results 1-10 of 10 (Search time: 0.004 seconds).

previous
1
next

Item hits:

Preview	Issue Date	Title	Author(s)
	2008	X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment	Dibbens, L.; Tarpey, P.; Hynes, K.; Bayly, M.; Scheffer, I.; Smith, R.; Bomar, J.; Sutton, E.; Vandeleur, L.; Shoubridge, C.; Edkins, S.; Turner, S.; Stevens, C.; O'Meara, S.; Tofts, C.; Barthorpe, S.; Buck, G.; Cole, J.; Halliday, K.; Jones, D.; et al.
	2004	Nxf and Fbxo33: novel seizure-responsive genes in mice	Flood, W.; Moyer, R.; Tsykin, A.; Sutherland, G.; Koblar, S.
	2000	Molecular cloning and characterisation of GPR74 a novel G-protein coupled receptor closest related to the Y-receptor family	Parker, R.; Copeland, N.; Eyre, H.; Liu, M.; Gilbert, D.; Crawford, J.; Couzens, M.; Sutherland, G.; Jenkins, N.; Herzog, H.
	2015	HCFC1 loss-of-function mutations disrupt neuronal and neural progenitor cells of the developing brain.	Jolly, L.; Nguyen, L.; Domingo, D.; Sun, Y.; Barry, S.; Hancarova, M.; Plevova, P.; Vlckova, M.; Havlovicova, M.; Kalscheuer, V.; Graziano, C.; Pippucci, T.; Bonora, E.; Sedlacek, Z.; Gecz, J.
	2012	PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome	Heron, 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.
	2010	Mutations in the small GTPase gene RAB39B are responsible for X-linked mental retardation associated with autism, epilepsy, and macrocephaly	Giannandrea, 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.
	2004	Intracerebral injection of sulfamidase delays neuropathology in murine MPS-IIIA	Savas, P.; Hemsley, K.; Hopwood, J.
	2007	Functional correction of CNS lesions in an MPS-IIIA mouse model by intracerebral AAV-mediated delivery of sulfamidase and SUMF1 genes	Fraldi, A.; Hemsley, K.; Crawley, A.; Lombardi, A.; Lau, A.; Sutherland, L.; Auricchio, A.; Ballabio, A.; Hopwood, J.
	2006	Inhibition of glycosaminoglycan synthesis using rhodamine B in a mouse model of mucopolysaccharidosis type IIIA	Derrick Roberts, A.; Thomas, B.; Wilkinson, A.; Fletcher, J.; Byers, S.
	2001	TTYH2, a human homologue of the Drosophila melanogaster gene tweety, is located on 17q24 and upregulated in renal cell carcinoma	Rae, F.; Hooper, J.; Eyre, H.; Sutherland, G.; Nicol, D.; Clements, J.