近期论文

查看导师新发文章 （温馨提示：请注意重名现象，建议点开原文通过作者单位确认）

Ricos, MG, Hodgson, B, PT, SA, Ong, YS, Heron, SE, Bayly, MA & Dibbens, LM 2016, 'Mutations in the mammalian target of rapamycin pathway regulators NPRL2 and NPRL3 cause focal epilepsy', Annals of Neurology, v.79,no.1, pp. 120-131. Muona, M, Berkovic, S, Dibbens, LM, Oliver, K, Bayly, MA, Heron, SE & Lehesjoki, A 2015, 'A recurrent de novo mutation in KCNC1 causes progressive myoclonus epilepsy', Nature Genetics, v. 47, pp. 39-46. M?ller, RS, Heron, SE, Larsen, LH, Lim, CX, Ricos, MG, Bayly, MA & Dibbens, LM 2015, 'Mutations in KCNT1 cause a spectrum of focal epilepsies', Epilepsia, v. 56, no. 9, pp. e114-e120. Gleich, K, Desmond, M, Lee, DD, Berkovic, S, Dibbens, LM, Katerlos, M, Bayly, MA, Fraser, S, Martinello, P, Vears, D, Mount, P & Power, D 2013, 'Abnormal Processing of Autophagosomes in Transformed B Lymphocytes form SCARB2-Deficient Subjects', BioResearch Open Access, v. 2, no. 1. Lomax, LB, Bayly, MA, Hjalgrim, H, M?ller, RS, Dibbens, LM & Berkovic, SF 2013, ''North Sea' progressive myoclonus epilepsy: phenotype of subjects with GOSR2 mutation', Brain: a journal of neurology, v. 136, no. 4, pp. 1146-1154. Mullen, SA, Carvill, GL, Bellows, S, Bayly, MA, Berkovic, SF, Dibbens, LM, Scheffer, IE & Mefford, HC 2013, 'Copy number variants are frequent in genetic generalized epilepsy with intellectual disability', Neurology, v. 81, no. 17, pp. 1507-1514. Corbett, MA, Schwake, M, Bahlo, M, Dibbens, LM, Lin, M, Gandolfo, LC, Vears, DF, O'Sullivan, JD, Robertson, T, Bayly, MA, Gardner, AE, Vlaar, AM, Korenke, C, Bloem, BR, de Coo, IF, Verhagen, JM, Lehesjoki, A-E, Gecz, J & Berkovic, SF 2011, 'A mutation in the Golgi Qb-SNARE gene GOSR2 causes progressive myoclonus epilepsy with early ataxia', American Journal of Human Genetics, v. 88, no. 5, pp. 657-663. Dibbens, L, Kneen, R, Bayly, M, Heron, S, Arsov, T, Damiano, J, Desai, T, Gibbs, J, McKenzie, F, Mulley, J, Ronan, A & Scheffer, I 2011, 'Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations', Neurology, v. 76, no. 17, pp. 1514-1519. Dibbens, LM, Karakis, I, Bayly, MA, Costello, D, Cole, A & Berkovic, S 2011, 'Mutation of SCARB2 in a patient with progressive myoclonus epilepsy and demyelinating peripheral neuropathy', JAMA Neurology-Archives of Neurology, v. 68, no. 6, pp. 812-813. Mulley, JC, Scheffer, IE, Desai, T, Bayly, MA, Grinton, BE, Vears, DF, Berkovic, SF & Dibbens, LM 2011, 'Investigation of the 15q13.3 CNV as a genetic modifier for familial epilepsies with variable phenotypes', Epilepsia, v. 52, no. 10, pp. e139-e142. Hynes, K, Tarpey, PS, Dibbens, LM, Bayly, MA, Berkovic, S, Smith, R, Al Raisi, Z, Turner, S, Brown, N, Desai, T, Haan, E, Turner, G, Christodoulou, J, Leonard, H, Gill, D, Stratton, M, Gecz, J & Scheffer, IE 2010, 'Epilepsy and mental retardation limited to females with PCDH19 mutations can present de novo or in single generation families ', Journal of Medical Genetics, v. 47, no. 3, pp. 211-216. Dibbens, LM, Michelucci, R, Gambardella, A, Andermann, A, Rubboli, G, Bayly, MA, Joensuu, T, Vears, D, Franceschetti, S, Canafoglia, L, Wallace, R, Bassuk, A, Power, D, Tassinari, C, Andermann, E, Lehesjoki, A & Berkovic, S 2009, 'SCARB2 mutations in progressive myoclonus epilepsy (PME) without renal failure ', Annals of Neurology, v. 66, no. 4, pp. 532-536. Dibbens, LM, Mullen, SA, Helbig, I, Mefford, H, Bayly, MA, Bellows, S, Leu, C, Trucks, H, Obermeier, T, Wittig, M, Franke, A, Caglayan, H, Yapici, Z, Sander, T, Eichler, E, Scheffer, IE, Mulley, J & Berkovic, S 2009, 'Familial and sporadic 15q13.3 microdeletions in idiopathic generalized epilepsy: precedent for disorders with complex inheritance', Human Molecular Genetics, v. 18, no. 19, pp. 3626-3631. Berkovic, SF, Dibbens, LM, Oshlack, A, Silver, JD, Bayly, MA & Bahlo, M and 20 other authors 2008, 'Array-Based Gene Discovery with Three Unrelated Subjects Shows SCARB2/LIMP-2 Deficiency Causes Myoclonus Epilepsy and Glomerulosclerosis', American Journal of Human Genetics, v. 82, no. 3, pp. 673-684. Dibbens, LM, Tarpey, PS, Hynes, K, Bayly, MA & Gecz, J 2008, 'X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment', Nature Genetics, v. 40, no. 6, pp. 776-781. Helbig, I, Matigian, N, Vadlamudi, L, Bayly, MA, Bain, M, Diyagama, D, Scheffer, IE, Mulley, J, Holloway, A, Dibbens, LM, Berkovic, S & Hayward, N 2008, 'Gene expression analysis in absence epilepsy using a monozygotic twin design ', Epilepsia, v. 49, no. 9, pp. 1546-1554. Scheffer, IE, Turner, SJ, Dibbens, LM, Bayly, MA & Berkovic, SF and 21 other authors 2008, 'Epilepsy and mental retardation limited to females : an under-recognized disorder', Brain: a journal of neurology, v. 131, no. 4, pp. 918-927