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High Rate of Recurrent De Novo Mutations in Developmental and Epileptic Encephalopathies.
Hamdan FF, Myers CT, Cossette P, Lemay P, Spiegelman D, Laporte AD, Nassif C, Diallo O, Monlong J, Cadieux-Dion M, Dobrzeniecka S, Meloche C, Retterer K, Cho MT, Rosenfeld JA, Bi W, Massicotte C, Miguet M, Brunga L, Regan BM, Mo K, Tam C, Schneider A, Hollingsworth G; Deciphering Developmental Disorders Study; FitzPatrick DR, Donaldson A, Canham N, Blair E, Kerr B, Fry AE, Thomas RH, Shelagh J, Hurst JA, Brittain H, Blyth M, Lebel RR, Gerkes EH, Davis-Keppen L, Stein Q, Chung WK, Dorison SJ, Benke PJ, Fassi E, Corsten-Janssen N, Kamsteeg EJ, Mau-Them FT, Bruel AL, Verloes A, Õunap K, Wojcik MH, Albert DVF, Venkateswaran S, Ware T, Jones D, Liu YC, Mohammad SS, Bizargity P, Bacino CA, Leuzzi V, Martinelli S, Dallapiccola B, Tartaglia M, Blumkin L, Wierenga KJ, Purcarin G, O'Byrne JJ, Stockler S, Lehman A, Keren B, Nougues MC, Mignot C, Auvin S, Nava C, Hiatt SM, Bebin M, Shao Y, Scaglia F, Lalani SR, Frye RE, Jarjour IT, Jacques S, Boucher RM, Riou E, Srour M, Carmant L, Lortie A, Major P, Diadori P, Dubeau F, D'Anjou G, Bourque G, Berkovic SF, Sadleir LG, Campeau PM, Kibar Z, Lafrenière RG, Girard SL, Mercimek-Mahmutoglu S, Boelman C, Rouleau GA, Scheffer IE, Mefford HC, Andrad… See abstract for full author list ➔ Hamdan FF, et al. Among authors: andrade dm. Am J Hum Genet. 2017 Nov 2;101(5):664-685. doi: 10.1016/j.ajhg.2017.09.008. Am J Hum Genet. 2017. PMID: 29100083 Free PMC article.
Progressive myoclonus epilepsies: EPM1, EPM2A, EPM2B.
Chan EM, Andrade DM, Franceschetti S, Minassian B. Chan EM, et al. Among authors: andrade dm. Adv Neurol. 2005;95:47-57. Adv Neurol. 2005. PMID: 15508913 Review. No abstract available.
Nonepileptic visual hallucinations in Lafora disease.
Andrade DM, del Campo JM, Moro E, Minassian BA, Wennberg RA. Andrade DM, et al. Neurology. 2005 Apr 12;64(7):1311-2. doi: 10.1212/01.WNL.0000156907.49247.05. Neurology. 2005. PMID: 15824378 No abstract available.
Genetics of epilepsies.
Andrade DM, Minassian BA. Andrade DM, et al. Expert Rev Neurother. 2007 Jun;7(6):727-34. doi: 10.1586/14737175.7.6.727. Expert Rev Neurother. 2007. PMID: 17563254 Review.
Lafora disease, seizures and sugars.
Andrade DM, Turnbull J, Minassian BA. Andrade DM, et al. Acta Myol. 2007 Jul;26(1):83-6. Acta Myol. 2007. PMID: 17915579 Free PMC article. Review.
175 results