Browse by all authors Browse By Author ID - Wallace, Robyn H.

Browse Results (43 results found)

Subscribe to the RSS feed for this result setSubscribe to the RSS feed for this result set


  Abstract Views File Downloads Thomson Reuters Web of Science Citation Count Scopus Citation Count Altmetric Score
Hawi, Ziarih, Matthews, Natasha, Barry, Edwina, Kirley, Aiveen, Wagner, Joseph, Wallace, Robyn H., Heussler, Helen S., Vance, Alasdair, Gill, Michael and Bellgrove, Mark A. (2013) A high density linkage disequilibrium mapping in 14 noradrenergic genes: evidence of association between SLC6A2, ADRA1B and ADHD. Psychopharmacology, 225 4: 895-902. doi:10.1007/s00213-012-2875-x 75 1 8 Cited 10 times in Scopus10 0
Bassuk, Alexander G., Wallace, Robyn H., Buhr, Aimee, Buller, Aandrew R., Afawi, Zaid, Shimojo, Mashito, Miyata, Singo, Chen, Shan, Gonzalez-Alegre, Pedro, Griesbach, Hilary L, Wu, Shu, Nashelsky, Marcus, Vladar, Ezster K., Antic, Dragana, Ferguson, Polly J., Cirak, Sebahattin, Voit, Thomas, Scott, Mathew P., Axelrod, Jeffery D., Gurnett, Christina, Daoud, Azhar S., Kivity, Sara, Neufeld, Miriam. Y., Mazarib, Aziz, Straussberg, Rachel, Walid, Simri, Korczyn, Amos D., Slusarski, Diane C., Berkovic, Samuel F. and El-Shanti, Hatem I. (2008) A homozygous mutation in human PRICKLE1 causes an autosomal-recessive progressive myoclonus epilepsy-ataxia syndrome. American Journal of Human Genetics, 83 5: 572-581. doi:10.1016/j.ajhg.2008.10.003 182   66 Cited 76 times in Scopus76 0
Walker, Adam K., Soo, Kai Y., Sundaramoorthy, Vinod, Parakh, Sonam, Ma, Yi, Farg, Manal A., Wallace, Robyn H., Crouch, Peter J., Turner, Bradley J., Horne, Malcolm K. and Atkin, Julie D. (2013) ALS-associated TDP-43 induces endoplasmic reticulum stress, which drives cytoplasmic TDP-43 accumulation and stress granule formation. PLoS One, 8 11: e81170.1-e81170.12. doi:10.1371/journal.pone.0081170 20   9 Cited 9 times in Scopus9 1
Bowser, DN, Wagner, DA, Czajkowski, C, Cromer, BA, Parker, MW, Wallace, RH, Harkin, LA, Mulley, JC, Marini, C, Berkovic, SF, Williams, DA, Jones, MV and Petrou, S (2002) Altered kinetics and benzodiazepine sensitivity of a GABA(A) receptor subunit mutation [gamma(2)(R43Q)] found in human epilepsy. Proceedings of The National Academy of Sciences of The United States of America, 99 23: 15170-15175. doi:10.1073/pnas.212320199 122   66 Cited 73 times in Scopus73 0
Steinlein, Ortrud K., Mulley, John C., Propping, Peter, Wallace, Robyn H., Phillips, Hilary A., Sutherland, Grant R., Scheffer, Ingrid E. and Berkovic, Samuel F. (1995) A missense mutation in the neuronal nicotinic acetylcholine receptor α4 subunit is associated with autosomal dominant nocturnal frontal lobe epilepsy. Nature Genetics, 11 2: 201-203. doi:10.1038/ng1095-201 42   692 Cited 750 times in Scopus750 3
Cundy, T, Hegde, M, Naot, D, Chong, B, King, A, Wallace, R, Love, DR, Seidel, J, Fawkner, M, Banovic, T, Callon, KE, Grey, AB, Reid, IR, Middleton-Hardie, CA and Cornish, J (2002) A mutation in the gene TNFRSF11B encoding osteoprotegerin causes an idiopathic hyperphosphatasia phenotype. Human Molecular Genetics, 11 18: 2119-2127. doi:10.1093/hmg/11.18.2119 83   131 Cited 152 times in Scopus152 0
Berkovic, SF, Mazarib, A, Walid, S, Neufeld, MY, Manelis, J, Nevo, Y, Korczyn, AD, Yin, JG, Xiong, L, Pandolfo, M, Mulley, JC and Wallace, RH (2005) A new clinical and molecular form of Unverricht-Lundborg disease localized by homozygosity mapping. Brain, 128 652-658. doi:10.1093/brain/awh377 166   23 Cited 29 times in Scopus29 1
Wallace, Robyn (2005) A plethora of SCN1A mutations : What can they tell us?. Epilepsy Currents, 5 1: 17-20. doi:10.1111/j.1535-7597.2005.05105.x 21   1
Mulley, John C., Heron, Sarah E., Wallace, Robyn H., Gecz, Jozef and Dibbens, Leanne M. (2011) "Blinders, phenotype, and fashionable genetic analysis": Setting the record straight for epilepsy!. Epilepsia, 52 9: 1757-1758. doi:10.1111/j.1528-1167.2011.03054.x 51   1 Cited 2 times in Scopus2 0
Inglis, H., Narayanan, R., Wallace, R., Greer, J. and McCombe, P. (2012). Changes in the gene expression and splicing in the CNS during pregnancy and post-partum in the rat. In: Progress in MS Research Conference, Melbourne, Australia, 2011 Conference Abstracts. Progress in MS Research Conference 2011, Melbourne, VIC, Australia, (701-701). 26-28 October 2011. doi:10.1177/1352458512440395 42   0 0
Marini, C., Harkin, L. A., Wallace, R. H., Mulley, J. C., Scheffer, I. E. and Berkovic, S. F. (2003) Childhood absence epilepsy and febrile seizures: A family with a GABAA receptor mutation. Brain, 126 1: 230-240. doi:10.1093/brain/awg018 239   90 Cited 98 times in Scopus98 0
Scheffer, I. E., Wallace, R. H., Mulley, J. C. and Berkovic, S. F. (2001) Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome). Brain & Development, 23 7: 732-735. doi:10.1016/S0387-7604(01)00272-8 203   41 Cited 46 times in Scopus46 0
Rubboli, G., Franceschetti, S., Canafoglia, L., Gambardella, A., Riguzzi, P., Dibbens, L. M., Andermann, F., Bayly, M. A., Joensuu, T., Vears, D. F., Wallace, R., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Pasini, E., Lehesjoki, A. E., Berkovic, S. F. and Michelucci, R (2010). CLINICAL AND NEUROPHYSIOLOGICAL FEATURES OF PROGRESSIVE MYOCLONUS EPILEPSY ( PME) ASSOCIATED WITH SCARB2 MUTATIONS WITHOUT RENAL FAILURE. In: EPILEPSIA. 9th European Congress on Epileptology, Rhodes GREECE, (23-23). JUN 27-JUL 01, 2010. 39   0
Kurniawan, N. D., Butler, T. and Wallace, R. (2007). Diffusion tensor imaging to study neurological changes in motor neuron and developmental diseases. In: 2007 UWS Symposium On NMR Imaging And Diffusion, UWS Campbelltown Campus, NSW, Australia, (). 27 October 2007. 57  
Bowser, DN, Panchal, RG, Wallace, RH, Marini, C, Harkin, L, Sutherland, GR, Mulley, JC, Scheffer, I, Berkovic, SF, Williams, DA and Petrou, S (2001) Electrophysiological investigation of a GABA(A) receptor subunit mutation found in humans with epilepsy. Biophysical Journal, 80 1: 108A-108A. 66   0
Scheffer, IE, Phillips, HA, OBrien, CE, Saling, MM, Wrennall, JA, Wallace, RH and Mulley, JC (1998) Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2. Annals of Neurology, 44 6: 890-899. doi:10.1002/ana.410440607 91   83 0
Berkovic, S. F., Serratosa, J. M., Phillips, H. A., Xiong, L., Andermann, E., Diaz-Otero, F., Gomez-Garre, P., Martin, M., Fernandez-Bullido, Y., Andermann, F., Lopes-Cendes, I., Dubeau, F., Desbiens, R., Scheffer, I. E. and Wallace, R. H. (2004) Familial partial epilepsy with variable foci: Clinical features and linkage to chromosome 22q12. Epilepsia, 45 9: 1054-1060. doi:10.1111/j.0013-9580.2004.30502.x 175   39 Cited 42 times in Scopus42 5
Wallace, RH, Wang, DW, Singh, R, Scheffer, IE, George, AL, Phillips, HA, Saar, K, Reis, A, Johnson, EW, Sutherland, GR, Berkovic, SF and Mulley, JC (1998) Febrile seizures and generalized epilepsy associated with a mutation in the Na+-channel beta 1 subunit gene SCN1B. Nature Genetics, 19 4: 366-370. 133   674
Wallace, RH, Scheffer, IE, Barnett, S, Berkovic, SF and Sutherland, GR (2000) Generalised epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B and evidence for a founder effect.. American Journal of Human Genetics, 67 4: 353-353. 223   0
Xua, R., Thomas, E.A., Gazina, E. V., Richards, K. L., Quick, M., Wallace, R. H., Harkin, L. A., Heron, S. E., Berkovic, S.F., Scheffer, I. E., Mulley, J. C. and Petrou, S. (2007) Generalized epilepsy with febrile seizures plus–associated sodium channel β1 subunit mutations severely reduce beta subunit–mediated modulation of sodium channel function. Neuroscience, 148 1: 164-174. doi:10.1016/j.neuroscience.2007.05.038 48   34 Cited 37 times in Scopus37 3
Wallace, RH, Scheffer, IE, Parasivam, G, Barnett, S, Wallace, GB, Sutherland, GR, Berkovic, SF and Mulley, JC (2002) Generalized epilepsy with febrile seizures plus: Mutation of the sodium channel subunit SCN1B. Neurology, 58 9: 1426-1429. 83   96 Cited 109 times in Scopus109
Marini, Carla, Scheffer, Ingrid E., Crossland, Kathryn M., Grinton, Bronwyn E., Phillips, Fiona L., McMahon, Jacinta M., Turner, Samantha J., Dean, Joanne T., Kivity, Sara, Mazarib, Aziz, Neufeld, Miriam Y., Korczyn, Amos D., Harkin, Louise A., Dibbens, Leanne M. and Wallace, Robyn H. (2004) Genetic architecture of idiopathic generalized epilepsy: Clinical genetic analysis of 55 multiplex families. Epilepsia, 45 5: 467-478. doi:10.1111/j.0013-9580.2004.46803.x 136   65 Cited 68 times in Scopus68 0
Scheffer, IE, Singh, R, Wallace, RH, Crossland, KM, Phillips, HA, Mulley, JC and Berkovic, SF (1999) Genotype-phenotype correlation in a family with epilepsy due to a sodium channel mutation.. Epilepsia, 40 239-240. 56   0
Wallace, Robyn (2005) Identification of a new JME gene implicates reduced apoptotic neuronal death as a mechanism of epileptogenesis. Epilepsy Currents, 5 1: 11-13. doi:10.1111/j.1535-7597.2005.05103.x 27   0
Narayanan, Ramesh K., Mangelsdorf, Marie, Panwar, Ajay, Butler, Tim J., Noakes, Peter G. and Wallace, Robyn H. (2013) Identification of RNA bound to the TDP-43 ribonucleoprotein complex in the adult mouse brain. Amyotrophic Lateral Sclerosis and Frontotemporal Degeneration, 14 4: 252-260. doi:10.3109/21678421.2012.734520 90 83 5 Cited 5 times in Scopus5 0
Walker, Tara L., White, Amanda, Black, Debra M., Wallace, Robyn H., Sah, Pankaj and Bartlett, Perry F. (2008) Latent stem and progenitor cells in the hippocampus are activated by neural excitation. Journal of Neuroscience, 28 20: 5240-5247. doi:10.1523/JNEUROSCI.0344-08.2008 196   60 Cited 57 times in Scopus57 0
Wallace, Robyn H., Walker, T. and Bartlett, P. (2007). Latent stem cells in the hippocampus are activated by prolonged seizures. In: American Epilepsy Society 61st Annual Meeting, USA, (245-246). 2007. 36  
Berkovic, SF, Izzillo, P, McMahon, JM, Harkin, LA, McIntosh, AM, Phillips, HA, Briellmann, RS, Wallace, RH, Mazarib, A, Neufeld, MY, Korczyn, AD, Scheffer, IE and Mulley, JC (2004) LGI1 mutations in temporal lobe epilepsies. Neurology, 62 7: 1115-1119. 73   50 Cited 53 times in Scopus53
Scheffer, IE, Wallace, RH, Mulley, JC and Berkovic, SF (2000) Locus for febrile seizures. Annals of Neurology, 47 6: 840-841. doi:10.1002/1531-8249(200006)47:6<840::AID-ANA28>3.0.CO;2-V 29   7 Cited 8 times in Scopus8 0
Cowin, Gary J., Butler, Tim J., Kurniawan, Nyoman D., Watson, Charles and Wallace, Robyn H. (2011) Magnetic resonance microimaging of the spinal cord in the SOD1 mouse model of amyotrophic lateral sclerosis detects motor nerve root degeneration. Neuroimage, 58 1: 69-74. doi:10.1016/j.neuroimage.2011.06.003 68 8 7 Cited 7 times in Scopus7 1
Kurniawan, N. D., Fox , B., Rogers, F., Butler, T., Li, L., Wallace, R., Cowin, G., Rose, S., Coulson, E., Galloway, G., Bartlett, P. F. and Brereton, I. M. (2006). Magnetic resonance neuroimaging at 16.4T. In: UWS Symposium and Workshop on NMR Imaging and Diffusion, Sydney, Australia, (). 21-22 October 2006. 63  
Wallace, RH, Marini, C, Petrou, S, Harkin, LA, Bowser, DN, Panchal, RG, Williams, DA, Sutherland, GR, Mulley, JC, Scheffer, IE and Berkovic, SF (2001) Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures. Nature Genetics, 28 1: 49-52. doi:10.1038/ng0501-49 94   473 0
Mulley, JC, Wallace, RH, Izzillo, P, MacIntosh, AM and Berkovic, SF (2002) Mutations in LGI1 in an Australian family with familial temporal lobe epilepsy with auditory features.. American Journal of Human Genetics, 71 4: 472-472. 97   0
Strømme, Petter, Mangelsdorf, Marie E., Shaw, Marie A., Lower, Karen M., Lewis, Suzanne M. E., Bruyere, Helene, Lütcherath, Viggo, Gedeon, Ági K., Wallace, Robyn H., Scheffer, Ingrid E., Turner, Gillian, Partington, Michael, Frints, Suzanna G. M., Fryns, Jean-Pierre, Sutherland, Grant R., Mulley, John C. and Gécz, Jozef (2002) Mutations in the human ortholog of Aristaless cause X-linked mental retardation and epilepsy. Nature Genetics, 30 4: 441-445. doi:10.1038/ng862 147   270 Cited 290 times in Scopus290 4
Wallace, RH, Scheffer, IE, Barnett, S, Richards, M, Dibbens, L, Desai, RR, Lerman-Sagie, T, Lev, D, Mazarib, A, Brand, N, Ben-Zeev, B, Goikhman, I, Singh, R, Kremmidiotis, G, Gardner, A, Sutherland, GR, George, AL, Mulley, JC and Berkovic, SF (2001) Neuronal sodium-channel alpha 1-subunit mutations in generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 68 4: 859-865. doi:10.1086/319516 62   203 Cited 237 times in Scopus237 3
Underwood, Clare K., Kurniawan, Nyoman D., Butler, Tim J., Cowin, Gary J. and Wallace, Robyn H. (2011) Non-invasive diffusion tensor imaging detects white matter degeneration in the spinal cord of a mouse model of amyotrophic lateral sclerosis. NeuroImage, 55 2: 455-461. doi:10.1016/j.neuroimage.2010.12.044 92 7 14 Cited 13 times in Scopus13 0
Dibbens, L. M., Michelucci, R., Gambardella, A., Andermann, F., Rubboli, G., Bayly, M. A., Joensuu, T., Vears, D. F, Franceschetti, S., Canafoglia, L, Wallace, Robyn H., Bassuk, A. G., Power, D. A., Tassinari, C. A., Andermann, E., Lehesjoki, A. E. and Berkovic, S. F. (2009) SCARB2 mutations in progressive Myoclonus Epilepsy (PME) without renal failure. Annals of Neurology, 66 4: 532-536. doi:10.1002/ana.21765 39   38 Cited 40 times in Scopus40 0
Wallace, R. H., Hodgson, B. L., Grinton, B .E., Gardiner, R. M., Robinson, R., Rodriguez-Casero, V., Sadleir, L., Morgan, J., Harkin, L. A., Dibbens, L. M., Yamamoto, T., Andermann, E., Mulley, J. C., Berkovic, S. F. and Scheffer, I. E. (2003) Sodium channel alpha 1-subunit mutations in severe myoclonic epilepsy of infancy and infantile spasms. Neurology, 61 6: 765-769. 87   119 Cited 134 times in Scopus134
Wallace, R. H., Freeman, J. L., Shouri, M. R., Izzillo, P. A., Rosenfeld, J. V., Mulley, J. C., Harvey, A. S. and Berkovic, S. F. (2008) Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Neurology, 70 8: 653-655. doi:10.1212/01.wnl.0000284607.12906.c5 91   6 Cited 6 times in Scopus6 0
Scheffer, Ingrid E., Harkin, Louise A., Grinton, Bronwyn E., Dibbens, Leanne M., Turner, Samantha J., Zielinski, Marta A., Xu, Rewei, Jackson, Graeme, Adams, Judith, Connellan, Mary, Petrou, Steven, Wellard, R, Mark, Briellmann, Regula S., Wallace, Robyn H., Mulley, John C. and Berkovic, Samuel F. (2007) Temporal lobe epilepsy and GEFS+ phenotypes associated with SCN1B mutations. Brain, 130 1: 100-109. doi:10.1093/brain/awl272 67   119 Cited 139 times in Scopus139 5
Matthews, Natasha, Vance, Alasdair, Cummins, Tarrant D. R., Wagner, Joeseph, Connolly, Amanda, Yamada, Jacqueline, Lockhart, Paul J., Panwar, Ajay, Wallace, Robyn H. and Bellgrove, Mark A. (2012) The COMT Val158 allele is associated with impaired delayed-match-to-sample performance in ADHD. Behavioral and Brain Functions, 8 25.1-25.9. doi:10.1186/1744-9081-8-25 53   2 Cited 4 times in Scopus4 0
Harkin, LA, Bowser, DN, Dibbens, LM, Singh, R, Phillips, F, Wallace, RH, Richards, MC, Williams, DA, Mulley, JC, Berkovic, SF, Scheffer, IE and Petrou, S (2002) Truncation of the GABA(A)-receptor gamma 2 subunit in a family with generalized epilepsy with febrile seizures plus. American Journal of Human Genetics, 70 2: 530-536. doi:10.1086/338710 66   263 Cited 291 times in Scopus291 3
Scheffer, IE, Wallace, RH, Phillips, FL, Hewson, P, Reardon, K, Parasivam, G, Stromme, P, Berkovic, SF, Gecz, J and Mulley, JC (2002) X-linked myoclonic epilepsy with spasticity and intellectual disability - Mutation in the homeobox gene ARX. Neurology, 59 3: 348-356. 154   57 Cited 60 times in Scopus60