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131 results

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Page 1
Alternating hemiplegia of childhood: evolution over time and mouse model corroboration.
Uchitel J, Wallace K, Tran L, Abrahamsen T, Hunanyan A, Prange L, Jasien J, Caligiuri L, Pratt M, Rikard B, Fons C, De Grandis E, Vezyroglou A, Heinzen EL, Goldstein DB, Vavassori R, Papadopoulou MT, Cocco I, Moré R; Duke AHC Research Group; French AHC Consortium; Arzimanoglou A, Panagiotakaki E, Mikati MA. Uchitel J, et al. Among authors: heinzen el. Brain Commun. 2021 Jun 4;3(3):fcab128. doi: 10.1093/braincomms/fcab128. eCollection 2021. Brain Commun. 2021. PMID: 34396101 Free PMC article.
Ethical challenges in genotype-driven research recruitment.
Beskow LM, Linney KN, Radtke RA, Heinzen EL, Goldstein DB. Beskow LM, et al. Among authors: heinzen el. Genome Res. 2010 Jun;20(6):705-9. doi: 10.1101/gr.104455.109. Epub 2010 Apr 23. Genome Res. 2010. PMID: 20418491 Free PMC article. No abstract available.
Common genetic variation and susceptibility to partial epilepsies: a genome-wide association study.
Kasperaviciūte D, Catarino CB, Heinzen EL, Depondt C, Cavalleri GL, Caboclo LO, Tate SK, Jamnadas-Khoda J, Chinthapalli K, Clayton LM, Shianna KV, Radtke RA, Mikati MA, Gallentine WB, Husain AM, Alhusaini S, Leppert D, Middleton LT, Gibson RA, Johnson MR, Matthews PM, Hosford D, Heuser K, Amos L, Ortega M, Zumsteg D, Wieser HG, Steinhoff BJ, Krämer G, Hansen J, Dorn T, Kantanen AM, Gjerstad L, Peuralinna T, Hernandez DG, Eriksson KJ, Kälviäinen RK, Doherty CP, Wood NW, Pandolfo M, Duncan JS, Sander JW, Delanty N, Goldstein DB, Sisodiya SM. Kasperaviciūte D, et al. Among authors: heinzen el. Brain. 2010 Jul;133(Pt 7):2136-47. doi: 10.1093/brain/awq130. Epub 2010 Jun 3. Brain. 2010. PMID: 20522523 Free PMC article.
A whole-genome analysis of premature termination codons.
Cirulli ET, Heinzen EL, Dietrich FS, Shianna KV, Singh A, Maia JM, Goedert JJ, Goldstein DB. Cirulli ET, et al. Among authors: heinzen el. Genomics. 2011 Nov;98(5):337-42. doi: 10.1016/j.ygeno.2011.07.001. Epub 2011 Jul 22. Genomics. 2011. PMID: 21803148 Free PMC article.
De novo mutations in ATP1A3 cause alternating hemiplegia of childhood.
Heinzen EL, Swoboda KJ, Hitomi Y, Gurrieri F, Nicole S, de Vries B, Tiziano FD, Fontaine B, Walley NM, Heavin S, Panagiotakaki E; European Alternating Hemiplegia of Childhood (AHC) Genetics Consortium; Biobanca e Registro Clinico per l'Emiplegia Alternante (I.B.AHC) Consortium; European Network for Research on Alternating Hemiplegia (ENRAH) for Small and Medium-sized Enterpriese (SMEs) Consortium; Fiori S, Abiusi E, Di Pietro L, Sweney MT, Newcomb TM, Viollet L, Huff C, Jorde LB, Reyna SP, Murphy KJ, Shianna KV, Gumbs CE, Little L, Silver K, Ptáček LJ, Haan J, Ferrari MD, Bye AM, Herkes GK, Whitelaw CM, Webb D, Lynch BJ, Uldall P, King MD, Scheffer IE, Neri G, Arzimanoglou A, van den Maagdenberg AM, Sisodiya SM, Mikati MA, Goldstein DB. Heinzen EL, et al. Nat Genet. 2012 Sep;44(9):1030-4. doi: 10.1038/ng.2358. Epub 2012 Jul 29. Nat Genet. 2012. PMID: 22842232 Free PMC article.
Gaps and opportunities in refractory status epilepticus research in children: a multi-center approach by the Pediatric Status Epilepticus Research Group (pSERG).
Sánchez Fernández I, Abend NS, Agadi S, An S, Arya R, Carpenter JL, Chapman KE, Gaillard WD, Glauser TA, Goldstein DB, Goldstein JL, Goodkin HP, Hahn CD, Heinzen EL, Mikati MA, Peariso K, Pestian JP, Ream M, Riviello JJ Jr, Tasker RC, Williams K, Loddenkemper T; Pediatric Status Epilepticus Research Group (pSERG). Sánchez Fernández I, et al. Among authors: heinzen el. Seizure. 2014 Feb;23(2):87-97. doi: 10.1016/j.seizure.2013.10.004. Epub 2013 Oct 16. Seizure. 2014. PMID: 24183923 Free PMC article. Review.
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
131 results