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Publications

Marcogliese, PC, Shashi, V, Spillmann, RC, Stong, N, Rosenfeld, JA, Koenig, MK, Martínez-Agosto, JA, Herzog, M, Chen, AH, Dickson, PI, Lin, HJ, Vera, MU, Salamon, N, Graham, JM, Ortiz, D, Infante, E, Steyaert, W, Dermaut, B, Poppe, B, Chung, H-L, Zuo, Z, Lee, P-T, Kanca, O, Xia, F, Yang, Y, Smith, EC, Jasien, J, Kansagra, S, Spiridigliozzi, G, El-Dairi, M, Lark, R, Riley, K, Koeberl, DD, Golden-Grant, K, Program for Undiagnosed Diseases (UD-PrOZA), , Undiagnosed Diseases Network, , Yamamoto, S, Wangler, MF, Mirzaa, G, Hemelsoet, D, Lee, B, Nelson, SF, Goldstein, DB, Bellen, HJ, and Pena, LDM. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics 103, no. 3 (September 2018): 456-null.

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Bennett, CL, Dastidar, SG, Ling, S-C, Malik, B, Ashe, T, Wadhwa, M, Miller, DB, Lee, C, Mitchell, MB, van Es, MA, Grunseich, C, Chen, Y, Sopher, BL, Greensmith, L, Cleveland, DW, and La Spada, AR. "Senataxin mutations elicit motor neuron degeneration phenotypes and yield TDP-43 mislocalization in ALS4 mice and human patients." Acta Neuropathologica 136, no. 3 (September 2018): 425-443.

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Petyuk, VA, Chang, R, Ramirez-Restrepo, M, Beckmann, ND, Henrion, MYR, Piehowski, PD, Zhu, K, Wang, S, Clarke, J, Huentelman, MJ, Xie, F, Andreev, V, Engel, A, Guettoche, T, Navarro, L, De Jager, P, Schneider, JA, Morris, CM, McKeith, IG, Perry, RH, Lovestone, S, Woltjer, RL, Beach, TG, Sue, LI, Serrano, GE, Lieberman, AP, Albin, RL, Ferrer, I, Mash, DC, Hulette, CM, Ervin, JF, Reiman, EM, Hardy, JA, Bennett, DA, Schadt, E, Smith, RD, and Myers, AJ. "The human brainome: network analysis identifies HSPA2 as a novel Alzheimer’s disease target." Brain : a Journal of Neurology 141, no. 9 (September 2018): 2721-2739.

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Guidon, AC, and Hobson-Webb, LD. "On the double: Early immunotherapy speeds recovery of ocular myasthenic weakness." Muscle & Nerve (August 14, 2018).

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Shakhnovich, V, Brian Smith, P, Guptill, JT, James, LP, Collier, DN, Wu, H, Livingston, CE, Zhao, J, Kearns, GL, Cohen-Wolkowiez, M, and Best Pharmaceuticals for Children Act–Pediatric Trials Network, . "A Population-Based Pharmacokinetic Model Approach to Pantoprazole Dosing for Obese Children and Adolescents." Paediatric Drugs (August 11, 2018).

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Flippo, KH, Gnanasekaran, A, Perkins, GA, Ahmad, A, Merrill, RA, Dickey, AS, Taylor, SS, McKnight, GS, Chauhan, AK, Usachev, YM, and Strack, S. "AKAP1 protects from cerebral ischemic stroke by inhibiting Drp1-dependent mitochondrial fission." The Journal of Neuroscience : the Official Journal of the Society for Neuroscience (August 8, 2018).

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McFarlin, J, Hailey, CE, Qi, W, Kranz, PG, Sun, W, Sun, W, Gray, M, King, NKK, Laskowitz, DT, and James, ML. "Associations between Patient Characteristics and a New, Early Do-Not-Attempt Resuscitation Order after Intracerebral Hemorrhage." Journal of Palliative Medicine 21, no. 8 (August 2018): 1161-1165.

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Arya, R, Peariso, K, Gaínza-Lein, M, Harvey, J, Bergin, A, Brenton, JN, Burrows, BT, Glauser, T, Goodkin, HP, Lai, Y-C, Mikati, MA, Fernández, IS, Tchapyjnikov, D, Wilfong, AA, Williams, K, Loddenkemper, T, and pediatric Status Epilepticus Research Group (pSERG), . "Efficacy and safety of ketogenic diet for treatment of pediatric convulsive refractory status epilepticus." Epilepsy Research 144 (August 2018): 1-6.

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Marcogliese, PC, Shashi, V, Spillmann, RC, Stong, N, Rosenfeld, JA, Koenig, MK, Martínez-Agosto, JA, Herzog, M, Chen, AH, Dickson, PI, Lin, HJ, Vera, MU, Salamon, N, Ortiz, D, Infante, E, Steyaert, W, Dermaut, B, Poppe, B, Chung, H-L, Zuo, Z, Lee, P-T, Kanca, O, Xia, F, Yang, Y, Smith, EC, Jasien, J, Kansagra, S, Spiridigliozzi, G, El-Dairi, M, Lark, R, Riley, K, Koeberl, DD, Golden-Grant, K, Program for Undiagnosed Diseases (UD-PrOZA), , Undiagnosed Diseases Network, , Yamamoto, S, Wangler, MF, Mirzaa, G, Hemelsoet, D, Lee, B, Nelson, SF, Goldstein, DB, Bellen, HJ, and Pena, LDM. "IRF2BPL Is Associated with Neurological Phenotypes." American Journal of Human Genetics 103, no. 2 (August 2018): 245-260.

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Verenes, M, Stone, SL, Hobson-Webb, LD, Mhoon, JT, Guidon, AC, De Jesus-Acosta, C, and Cartwright, MS. "Neuromuscular ultrasound findings in eosinophilic fasciitis: A case series and literature review." Muscle & Nerve 58, no. 2 (August 2018): E15-E18.

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