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261 results

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Page 1
Gene expression analysis in absence epilepsy using a monozygotic twin design.
Helbig I, Matigian NA, Vadlamudi L, Lawrence KM, Bayly MA, Bain SM, Diyagama D, Scheffer IE, Mulley JC, Holloway AJ, Dibbens LM, Berkovic SF, Hayward NK. Helbig I, et al. Among authors: mulley jc. Epilepsia. 2008 Sep;49(9):1546-54. doi: 10.1111/j.1528-1167.2008.01630.x. Epub 2008 Apr 24. Epilepsia. 2008. PMID: 18435749 Free article.
Array-based gene discovery with three unrelated subjects shows SCARB2/LIMP-2 deficiency causes myoclonus epilepsy and glomerulosclerosis.
Berkovic SF, Dibbens LM, Oshlack A, Silver JD, Katerelos M, Vears DF, Lüllmann-Rauch R, Blanz J, Zhang KW, Stankovich J, Kalnins RM, Dowling JP, Andermann E, Andermann F, Faldini E, D'Hooge R, Vadlamudi L, Macdonell RA, Hodgson BL, Bayly MA, Savige J, Mulley JC, Smyth GK, Power DA, Saftig P, Bahlo M. Berkovic SF, et al. Among authors: mulley jc. Am J Hum Genet. 2008 Mar;82(3):673-84. doi: 10.1016/j.ajhg.2007.12.019. Epub 2008 Feb 28. Am J Hum Genet. 2008. PMID: 18308289 Free PMC article.
Genetics of epilepsy: The testimony of twins in the molecular era.
Vadlamudi L, Milne RL, Lawrence K, Heron SE, Eckhaus J, Keay D, Connellan M, Torn-Broers Y, Howell RA, Mulley JC, Scheffer IE, Dibbens LM, Hopper JL, Berkovic SF. Vadlamudi L, et al. Among authors: mulley jc. Neurology. 2014 Sep 16;83(12):1042-8. doi: 10.1212/WNL.0000000000000790. Epub 2014 Aug 8. Neurology. 2014. PMID: 25107880 Free PMC article.
Autosomal dominant nocturnal frontal-lobe epilepsy: genetic heterogeneity and evidence for a second locus at 15q24.
Phillips HA, Scheffer IE, Crossland KM, Bhatia KP, Fish DR, Marsden CD, Howell SJ, Stephenson JB, Tolmie J, Plazzi G, Eeg-Olofsson O, Singh R, Lopes-Cendes I, Andermann E, Andermann F, Berkovic SF, Mulley JC. Phillips HA, et al. Among authors: mulley jc. Am J Hum Genet. 1998 Oct;63(4):1108-16. doi: 10.1086/302047. Am J Hum Genet. 1998. PMID: 9758605 Free PMC article.
Neuronal sodium-channel alpha1-subunit mutations in generalized epilepsy with febrile seizures plus.
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 Jr, Mulley JC, Berkovic SF. Wallace RH, et al. Among authors: mulley jc. Am J Hum Genet. 2001 Apr;68(4):859-65. doi: 10.1086/319516. Epub 2001 Mar 13. Am J Hum Genet. 2001. PMID: 11254444 Free PMC article.
Somatic mutations in GLI3 can cause hypothalamic hamartoma and gelastic seizures.
Wallace RH, Freeman JL, Shouri MR, Izzillo PA, Rosenfeld JV, Mulley JC, Harvey AS, Berkovic SF. Wallace RH, et al. Among authors: mulley jc. Neurology. 2008 Feb 19;70(8):653-5. doi: 10.1212/01.wnl.0000284607.12906.c5. Epub 2007 Dec 5. Neurology. 2008. PMID: 18057317 No abstract available.
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