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Page 1
Copy number variation plays an important role in clinical epilepsy.
Olson H, Shen Y, Avallone J, Sheidley BR, Pinsky R, Bergin AM, Berry GT, Duffy FH, Eksioglu Y, Harris DJ, Hisama FM, Ho E, Irons M, Jacobsen CM, James P, Kothare S, Khwaja O, Lipton J, Loddenkemper T, Markowitz J, Maski K, Megerian JT, Neilan E, Raffalli PC, Robbins M, Roberts A, Roe E, Rollins C, Sahin M, Sarco D, Schonwald A, Smith SE, Soul J, Stoler JM, Takeoka M, Tan WH, Torres AR, Tsai P, Urion DK, Weissman L, Wolff R, Wu BL, Miller DT, Poduri A. Olson H, et al. Among authors: neilan e. Ann Neurol. 2014 Jun;75(6):943-58. doi: 10.1002/ana.24178. Epub 2014 Jun 13. Ann Neurol. 2014. PMID: 24811917 Free PMC article.
Homozygous PLCB1 deletion associated with malignant migrating partial seizures in infancy.
Poduri A, Chopra SS, Neilan EG, Elhosary PC, Kurian MA, Meyer E, Barry BJ, Khwaja OS, Salih MA, Stödberg T, Scheffer IE, Maher ER, Sahin M, Wu BL, Berry GT, Walsh CA, Picker J, Kothare SV. Poduri A, et al. Among authors: neilan eg. Epilepsia. 2012 Aug;53(8):e146-50. doi: 10.1111/j.1528-1167.2012.03538.x. Epub 2012 Jun 12. Epilepsia. 2012. PMID: 22690784 Free PMC article.
Increased oxidative phosphorylation in response to acute and chronic DNA damage.
Brace LE, Vose SC, Stanya K, Gathungu RM, Marur VR, Longchamp A, Treviño-Villarreal H, Mejia P, Vargas D, Inouye K, Bronson RT, Lee CH, Neilan E, Kristal BS, Mitchell JR. Brace LE, et al. Among authors: neilan e. NPJ Aging Mech Dis. 2016 Oct 13;2:16022. doi: 10.1038/npjamd.2016.22. eCollection 2016. NPJ Aging Mech Dis. 2016. PMID: 28721274 Free PMC article.
Newborn Screening for Glutaric Aciduria-II: The New England Experience.
Sahai I, Garganta CL, Bailey J, James P, Levy HL, Martin M, Neilan E, Phornphutkul C, Sweetser DA, Zytkovicz TH, Eaton RB. Sahai I, et al. Among authors: neilan e. JIMD Rep. 2014;13:1-14. doi: 10.1007/8904_2013_262. Epub 2013 Nov 5. JIMD Rep. 2014. PMID: 24190796 Free PMC article.
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