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Results: 1-16 |
Results: 16
Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures
Authors: Wallace, RH Marini, C Petrou, S Harkin, LA Bowser, DN Panchal, RG Williams, DA Sutherland, GR Mulley, JC Scheffer, IE Berkovic, SF
Citation: Rh. Wallace et al., Mutant GABA(A) receptor gamma 2-subunit in childhood absence epilepsy and febrile seizures, NAT GENET, 28(1), 2001, pp. 49-52
Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome)
Authors: Scheffer, IE Wallace, R Mulley, JC Berkovic, SF
Citation: Ie. Scheffer et al., Clinical and molecular genetics of myoclonic-astatic epilepsy and severe myoclonic epilepsy in infancy (Dravet syndrome), BRAIN DEVEL, 23(7), 2001, pp. 732-735
Cloning and characterization of the human activity-dependent neuroprotective protein
Authors: Zamostiano, R Pinhasov, A Gelber, E Steingart, RA Seroussi, E Giladi, E Bassan, M Wollman, Y Eyre, HJ Mulley, JC Brenneman, DE Gozes, I
Citation: R. Zamostiano et al., Cloning and characterization of the human activity-dependent neuroprotective protein, J BIOL CHEM, 276(1), 2001, pp. 708-714
The molecular basis of X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Tiller, GE Le Merrer, M Heuertz, S Tranebjaerg, L Chitayat, D Robertson, S Glass, IA Savarirayan, R Cole, WG Rimoin, DL Kousseff, BG Ohashi, H Zabel, B Munnich, A Gecz, J Mulley, JC
Citation: Ak. Gedeon et al., The molecular basis of X-linked spondyloepiphyseal dysplasia tarda, AM J HU GEN, 68(6), 2001, pp. 1386-1397
Neuronal sodium-channel alpha 1-subunit mutations in generalized epilepsy with febrile seizures plus
Authors: 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 Berkovic, SF
Citation: Rh. Wallace et al., Neuronal sodium-channel alpha 1-subunit mutations in generalized epilepsy with febrile seizures plus, AM J HU GEN, 68(4), 2001, pp. 859-865
CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy
Authors: Phillips, HA Favre, I Kirkpatrick, M Zuberi, SM Goudie, D Heron, SE Scheffer, IE Sutherland, GR Berkovic, SF Bertrand, D Mulley, JC
Citation: Ha. Phillips et al., CHRNB2 is the second acetylcholine receptor subunit associated with autosomal dominant nocturnal frontal lobe epilepsy, AM J HU GEN, 68(1), 2001, pp. 225-231
Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda
Authors: Gecz, J Hillman, MA Gedeon, AK Cox, TC Baker, E Mulley, JC
Citation: J. Gecz et al., Gene structure and expression study of the SEDL gene for spondyloepiphyseal dysplasia tarda, GENOMICS, 69(2), 2000, pp. 242-251
A de novo mutation in sporadic nocturnal frontal lobe epilepsy
Authors: Phillips, HA Marini, C Scheffer, IE Sutherland, GR Mulley, JC Berkovic, SF
Citation: Ha. Phillips et al., A de novo mutation in sporadic nocturnal frontal lobe epilepsy, ANN NEUROL, 48(2), 2000, pp. 264-267
Locus for febrile seizures
Authors: Scheffer, IE Wallace, RH Mulley, JC Berkovic, SF
Citation: Ie. Scheffer et al., Locus for febrile seizures, ANN NEUROL, 47(6), 2000, pp. 840-841
Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda
Authors: Gedeon, AK Colley, A Jamieson, R Thompson, EM Rogers, J Sillence, D Tiller, GE Mulley, JC Gecz, J
Citation: Ak. Gedeon et al., Identification of the gene (SEDL) causing X-linked spondyloepiphyseal dysplasia tarda, NAT GENET, 22(4), 1999, pp. 400-404
Characterisation and expression of a large, 13.7 kb FMR2 isoform.
Authors: Gecz, J Mulley, JC
Citation: J. Gecz et Jc. Mulley, Characterisation and expression of a large, 13.7 kb FMR2 isoform., EUR J HUM G, 7(2), 1999, pp. 157-162
Characterization of the human glutamate receptor subunit 3 gene (GRIA3), acandidate for bipolar disorder and nonspecific X-linked mental retardation
Authors: Gecz, J Barnett, S Liu, JJ Hollway, G Donnelly, A Eyre, H Eshkevari, HS Baltazar, R Grunn, A Nagaraja, R Gilliam, C Peltonen, L Sutherland, GR Baron, M Mulley, JC
Citation: J. Gecz et al., Characterization of the human glutamate receptor subunit 3 gene (GRIA3), acandidate for bipolar disorder and nonspecific X-linked mental retardation, GENOMICS, 62(3), 1999, pp. 356-368
Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient
Authors: Gecz, J Baker, E Donnelly, A Ming, JE McDonald-McGinn, DM Spinner, NB Zackai, EH Sutherland, GR Mulley, JC
Citation: J. Gecz et al., Fibroblast growth factor homologous factor 2 (FHF2): gene structure, expression and mapping to the Borjeson-Forssman-Lehmann syndrome region in Xq26 delineated by a duplication breakpoint in a BFLS-like patient, HUM GENET, 104(1), 1999, pp. 56-63
Gene localization for oral-facial-digital syndrome type 1 (OFD1 : MIM 311200) proximal to DXS85
Authors: Gedeon, AK Oley, C Nelson, J Turner, G Mulley, JC
Citation: Ak. Gedeon et al., Gene localization for oral-facial-digital syndrome type 1 (OFD1 : MIM 311200) proximal to DXS85, AM J MED G, 82(4), 1999, pp. 352-354
The genetic basis for periodic fever
Authors: Mulley, JC
Citation: Jc. Mulley, The genetic basis for periodic fever, AM J HU GEN, 64(4), 1999, pp. 939-942
Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2
Authors: Scheffer, IE Phillips, HA O'Brien, CE Saling, MM Wrennall, JA Wallace, RH Mulley, JC
Citation: Ie. Scheffer et al., Familial partial epilepsy with variable foci: A new partial epilepsy syndrome with suggestion of linkage to chromosome 2, ANN NEUROL, 44(6), 1998, pp. 890-899
Risultati: 1-16 |