1 - 25 of 65 results for author:"Mulley J." in Literature citations
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| KCNQ2 encephalopathy: emerging phenotype of a neonatal epileptic encephalopathy. Weckhuysen S., Mandelstam S., Suls A., Audenaert D., Deconinck T., Claes L.R., Deprez L., Smets K., Hristova D., Yordanova I. et al. Ann. Neurol. 71:15-25(2012) · Mapped (10) |
| PRRT2 mutations cause benign familial infantile epilepsy and infantile convulsions with choreoathetosis syndrome. Heron S.E., Grinton B.E., Kivity S., Afawi Z., Zuberi S.M., Hughes J.N., Pridmore C., Hodgson B.L., Iona X., Sadleir L.G. et al. Am. J. Hum. Genet. 90:152-160(2012) · UniProtKB (1) |
| De novo SCN1A mutations in migrating partial seizures of infancy. Carranza Rojo D., Hamiwka L., McMahon J.M., Dibbens L.M., Arsov T., Suls A., Stodberg T., Kelley K., Wirrell E., Appleton B. et al. Neurology 77:380-383(2011) · Mapped (7) |
| Recurrence risk of epilepsy and mental retardation in females due to parental mosaicism of PCDH19 mutations. Dibbens L.M., Kneen R., Bayly M.A., Heron S.E., Arsov T., Damiano J.A., Desai T., Gibbs J., McKenzie F., Mulley J.C. et al. |
| A focal epilepsy and intellectual disability syndrome is due to a mutation in TBC1D24. Corbett M.A., Bahlo M., Jolly L., Afawi Z., Gardner A.E., Oliver K.L., Tan S., Coffey A., Mulley J.C., Dibbens L.M. et al. Am. J. Hum. Genet. 87:371-375(2010) · UniProtKB (3) · Mapped (3) |
| Mosaicism of a missense SCN1A mutation and Dravet syndrome in a Roma/Gypsy family. Azmanov D.N., Zhelyazkova S., Dimova P.S., Radionova M., Bojinova V., Florez L., Smith S.J., Tournev I., Jablensky A., Mulley J. et al. Epileptic Disord 12:117-124(2010) · Mapped (5) |
| Parallel retention of Pdx2 genes in cartilaginous fish and coelacanths. Mulley J.F., Holland P.W. Mol. Biol. Evol. 27:2386-2391(2010) · UniProtKB (6) |
| Effects of vaccination on onset and outcome of Dravet syndrome: a retrospective study. McIntosh A.M., McMahon J., Dibbens L.M., Iona X., Mulley J.C., Scheffer I.E., Berkovic S.F. Lancet Neurol 9:592-598(2010) · Mapped (7) |
| Comparative genomics of chondrichthyan Hoxa clusters. Mulley J.F., Zhong Y.F., Holland P.W. BMC Evol. Biol. 9:218-218(2009) · UniProtKB (11) |
| De novo SCN1A mutations in Dravet syndrome and related epileptic encephalopathies are largely of paternal origin. Heron S.E., Scheffer I.E., Iona X., Zuberi S.M., Birch R., McMahon J.M., Bruce C.M., Berkovic S.F., Mulley J.C. J. Med. Genet. 47:137-141(2010) · UniProtKB (1) · Mapped (6) |
| SCN1A duplications and deletions detected in Dravet syndrome: implications for molecular diagnosis. Marini C., Scheffer I.E., Nabbout R., Mei D., Cox K., Dibbens L.M., McMahon J.M., Iona X., Carpintero R.S., Elia M. et al. Epilepsia 50:1670-1678(2009) · Mapped (7) |
| X-linked protocadherin 19 mutations cause female-limited epilepsy and cognitive impairment. Dibbens L.M., Tarpey P.S., Hynes K., Bayly M.A., Scheffer I.E., Smith R., Bomar J., Sutton E., Vandeleur L., Shoubridge C. et al. |
| Gene expression analysis in absence epilepsy using a monozygotic twin design. Helbig I., Matigian N.A., Vadlamudi L., Lawrence K.M., Bayly M.A., Bain S.M., Diyagama D., Scheffer I.E., Mulley J.C., Holloway A.J. et al. Epilepsia 49:1546-1554(2008) · Mapped (6) |
| Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis. Berkovic S.F., Dibbens L.M., Oshlack A., Silver J.D., Katerelos M., Vears D.F., Luellmann-Rauch R., Blanz J., Zhang K.W., Stankovich J. et al. Am. J. Hum. Genet. 82:673-684(2008) · UniProtKB (1) |
| Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures. Wallace R.H., Freeman J.L., Shouri M.R., Izzillo P.A., Rosenfeld J.V., Mulley J.C., Harvey A.S., Berkovic S.F. Neurology 70:653-655(2008) · Mapped (2) |
| Reduced cortical inhibition in a mouse model of familial childhood absence epilepsy. Tan H.O., Reid C.A., Single F.N., Davies P.J., Chiu C., Murphy S., Clarke A.L., Dibbens L., Krestel H., Mulley J.C. et al. Proc. Natl. Acad. Sci. U.S.A. 104:17536-17541(2007) · Mapped (4) |
| Multicentre search for genetic susceptibility loci in sporadic epilepsy syndrome and seizure types: a case-control study. Cavalleri G.L., Weale M.E., Shianna K.V., Singh R., Lynch J.M., Grinton B., Szoeke C., Murphy K., Kinirons P., O'Rourke D. et al. Lancet Neurol 6:970-980(2007) · Mapped (19) |
| Extended spectrum of idiopathic generalized epilepsies associated with CACNA1H functional variants. Heron S.E., Khosravani H., Varela D., Bladen C., Williams T.C., Newman M.R., Scheffer I.E., Berkovic S.F., Mulley J.C., Zamponi G.W. Ann. Neurol. 62:560-568(2007) · Mapped (8) |
| Mutations in the BRWD3 gene cause X-linked mental retardation associated with macrocephaly. Field M., Tarpey P.S., Smith R., Edkins S., O'Meara S., Stevens C., Tofts C., Teague J., Butler A., Dicks E. et al. Am. J. Hum. Genet. 81:367-374(2007) · UniProtKB (1) |
| Generalized epilepsy with febrile seizures plus-associated sodium channel beta1 subunit mutations severely reduce beta subunit-mediated modulation of sodium channel function. Xu 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. et al. Neuroscience 148:164-174(2007) · Mapped (4) |
| A childhood epilepsy mutation reveals a role for developmentally regulated splicing of a sodium channel. Xu R., Thomas E.A., Jenkins M., Gazina E.V., Chiu C., Heron S.E., Mulley J.C., Scheffer I.E., Berkovic S.F., Petrou S. Mol. Cell. Neurosci. 35:292-301(2007) · Mapped (4) |
| SCN2A mutations and benign familial neonatal-infantile seizures: the phenotypic spectrum. Herlenius E., Heron S.E., Grinton B.E., Keay D., Scheffer I.E., Mulley J.C., Berkovic S.F. Epilepsia 48:1138-1142(2007) · Mapped (4) |
| The spectrum of SCN1A-related infantile epileptic encephalopathies. The infantile epileptic encephalopathy referral consortium |
| NEDD4-2 as a potential candidate susceptibility gene for epileptic photosensitivity. Dibbens L.M., Ekberg J., Taylor I., Hodgson B.L., Conroy S.J., Lensink I.L., Kumar S., Zielinski M.A., Harkin L.A., Sutherland G.R. et al. Genes Brain Behav. 6:750-755(2007) · Mapped (6) |
| Breakup of a homeobox cluster after genome duplication in teleosts. Mulley J.F., Chiu C.-H., Holland P.W.H. Proc. Natl. Acad. Sci. U.S.A. 103:10369-10372(2006) · UniProtKB (8) |