1. Adelaide Research & Scholarship

Search


Current filters:



Start a new search
Add filters:

Use filters to refine the search results.

 | 
Results 1-8 of 8 (Search time: 0.004 seconds).
  • previous
  • 1
  • next
Item hits:
PreviewIssue DateTitleAuthor(s)
2020Disentangling the paradox of the PCDH19 clustering epilepsy, a disorder of cellular mosaicsGecz, J.; Thomas, P.Q.
2004Mouse orthologue of ARX, a gene mutated in several X-linked forms of mental retardation and epilepsy, is a marker of adult neural stem cells and forebrain GABAergic neuronsColombo, E.; Galli, R.; Cossu, G.; Gecz, J.; Broccoli, V.
2013A regulatory path associated with X-linked intellectual disability and epilepsy links KDM5C to the polyalanine expansions in ARXPoeta, L.; Fusco, F.; Drongitis, D.; Shoubridge, C.; Manganelli, G.; Filosa, S.; Paciolla, M.; Courtney, M.; Collombat, P.; Lioi, M.; Gecz, J.; Ursini, M.; Miano, M.
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.
2002Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsyStromme, P.; Mangelsdorf, M.; Shaw, M.; Lower, K.; Lewis, S.; Bruyere, H.; Lutcherath, V.; Gedeon, A.; Wallace, R.; Scheffer, I.; Turner, G.; Partington, M.; Frints, S.; Fryns, J.; Sutherland, G.; Mulley, J.; Gecz, J.
2016Pcdh19 loss-of-function increases neuronal migration in vitro but is dispensable for brain development in micePederick, D.; Homan, C.; Jaehne, E.; Piltz, S.; Haines, B.; Baune, B.; Jolly, L.; Hughes, J.; Gecz, J.; Thomas, P.
2016Dominant KCNA2 mutation causes episodic ataxia and pharmacoresponsive epilepsyCorbett, M.A.; Bellows, S.T.; Li, M.; Carroll, R.; Micallef, S.; Carvill, G.L.; Myers, C.T.; Howell, K.B.; Maljevic, S.; Lerche, H.; Gazina, E.V.; Mefford, H.C.; Bahlo, M.; Berkovic, S.F.; Petrou, S.; Scheffer, I.E.; Gecz, J.
2011"Blinders, phenotype, and fashionable genetic analysis": setting the record straight for epilepsy!Mulley, J.C.; Heron, S.E.; Wallace, R.H.; Gecz, J.; Dibbens, L.M.

Discover