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Page 1
Exploration of the genetic architecture of idiopathic generalized epilepsies.
Hempelmann A, Taylor KP, Heils A, Lorenz S, Prud'homme JF, Nabbout R, Dulac O, Rudolf G, Zara F, Bianchi A, Robinson R, Gardiner RM, Covanis A, Lindhout D, Stephani U, Elger CE, Weber YG, Lerche H, Nürnberg P, Kron KL, Scheffer IE, Mulley JC, Berkovic SF, Sander T. Hempelmann A, et al. Among authors: robinson r. Epilepsia. 2006 Oct;47(10):1682-90. doi: 10.1111/j.1528-1167.2006.00677.x. Epilepsia. 2006. PMID: 17054691 Free article.
Delineation of the movement disorders associated with FOXG1 mutations.
Papandreou A, Schneider RB, Augustine EF, Ng J, Mankad K, Meyer E, McTague A, Ngoh A, Hemingway C, Robinson R, Varadkar SM, Kinali M, Salpietro V, O'Driscoll MC, Basheer SN, Webster RI, Mohammad SS, Pula S, McGowan M, Trump N, Jenkins L, Elmslie F, Scott RH, Hurst JA, Perez-Duenas B, Paciorkowski AR, Kurian MA. Papandreou A, et al. Among authors: robinson r. Neurology. 2016 May 10;86(19):1794-800. doi: 10.1212/WNL.0000000000002585. Epub 2016 Mar 30. Neurology. 2016. PMID: 27029630 Free PMC article.
Exploration of a putative susceptibility locus for idiopathic generalized epilepsy on chromosome 8p12.
Sander T, Windemuth C, Schulz H, Saar K, Gennaro E, Riggio C, Bianchi A, Zara F, Rudolf G, Picard F, Bulteau C, Kaminska A, Cieuta C, Prud'homme JF, Dulac O, Bate L, Robinson R, Gardiner RM, Covanis A, de Haan GJ, Janssen GA, van Erp MG, Boezeman EH, Lindhout D, Heils A, Nürnberg P, Janz D; European Consortium on the Genetics of Idiopathic Generalized Epilepsy. Sander T, et al. Among authors: robinson r. Epilepsia. 2003 Jan;44(1):32-9. doi: 10.1046/j.1528-1157.2003.51501.x. Epilepsia. 2003. PMID: 12581227 Free article.
Linkage analysis between childhood absence epilepsy and genes encoding GABAA and GABAB receptors, voltage-dependent calcium channels, and the ECA1 region on chromosome 8q.
Robinson R, Taske N, Sander T, Heils A, Whitehouse W, Goutières F, Aicardi J, Lehesjoki AE, Siren A, Laue Friis M, Kjeldsen MJ, Panayiotopoulos C, Kennedy C, Ferrie C, Rees M, Gardiner RM. Robinson R, et al. Epilepsy Res. 2002 Feb;48(3):169-79. doi: 10.1016/s0920-1211(01)00335-7. Epilepsy Res. 2002. PMID: 11904235
Phenotypic and genetic spectrum of epilepsy with myoclonic atonic seizures.
Tang S, Addis L, Smith A, Topp SD, Pendziwiat M, Mei D, Parker A, Agrawal S, Hughes E, Lascelles K, Williams RE, Fallon P, Robinson R, Cross HJ, Hedderly T, Eltze C, Kerr T, Desurkar A, Hussain N, Kinali M, Bagnasco I, Vassallo G, Whitehouse W, Goyal S, Absoud M; EuroEPINOMICS-RES Consortium; Møller RS, Helbig I, Weber YG, Marini C, Guerrini R, Simpson MA, Pal DK. Tang S, et al. Among authors: robinson r. Epilepsia. 2020 May;61(5):995-1007. doi: 10.1111/epi.16508. Epub 2020 May 29. Epilepsia. 2020. PMID: 32469098
Evaluation of CACNA1H in European patients with childhood absence epilepsy.
Chioza B, Everett K, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis M, Heils A, Kjeldsen M, Larsson K, Lehesjoki AE, Nabbout R, Olsson I, Sander T, Sirén A, Robinson R, Rees M, Gardiner RM. Chioza B, et al. Among authors: robinson r. Epilepsy Res. 2006 May;69(2):177-81. doi: 10.1016/j.eplepsyres.2006.01.009. Epub 2006 Feb 28. Epilepsy Res. 2006. PMID: 16504478 Free article.
Genome wide high density SNP-based linkage analysis of childhood absence epilepsy identifies a susceptibility locus on chromosome 3p23-p14.
Chioza BA, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley JM, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis ML, Guerrini R, Kjeldsen MJ, Nabbout R, Nashef L, Sander T, Sirén A, Wirrell E, McKeigue P, Robinson R, Gardiner RM, Everett KV. Chioza BA, et al. Among authors: robinson r. Epilepsy Res. 2009 Dec;87(2-3):247-55. doi: 10.1016/j.eplepsyres.2009.09.010. Epub 2009 Oct 17. Epilepsy Res. 2009. PMID: 19837565 Free PMC article.
Linkage and mutational analysis of CLCN2 in childhood absence epilepsy.
Everett K, Chioza B, Aicardi J, Aschauer H, Brouwer O, Callenbach P, Covanis A, Dooley J, Dulac O, Durner M, Eeg-Olofsson O, Feucht M, Friis M, Guerrini R, Heils A, Kjeldsen M, Nabbout R, Sander T, Wirrell E, McKeigue P, Robinson R, Taske N, Gardiner M. Everett K, et al. Among authors: robinson r. Epilepsy Res. 2007 Jul;75(2-3):145-53. doi: 10.1016/j.eplepsyres.2007.05.004. Epub 2007 Jun 18. Epilepsy Res. 2007. PMID: 17580110 Free article.
Adaptor protein-2 sigma subunit mutations causing familial hypocalciuric hypercalcaemia type 3 (FHH3) demonstrate genotype-phenotype correlations, codon bias and dominant-negative effects.
Hannan FM, Howles SA, Rogers A, Cranston T, Gorvin CM, Babinsky VN, Reed AA, Thakker CE, Bockenhauer D, Brown RS, Connell JM, Cook J, Darzy K, Ehtisham S, Graham U, Hulse T, Hunter SJ, Izatt L, Kumar D, McKenna MJ, McKnight JA, Morrison PJ, Mughal MZ, O'Halloran D, Pearce SH, Porteous ME, Rahman M, Richardson T, Robinson R, Scheers I, Siddique H, Van't Hoff WG, Wang T, Whyte MP, Nesbit MA, Thakker RV. Hannan FM, et al. Among authors: robinson r. Hum Mol Genet. 2015 Sep 15;24(18):5079-92. doi: 10.1093/hmg/ddv226. Epub 2015 Jun 16. Hum Mol Genet. 2015. PMID: 26082470 Free PMC article.
4,111 results