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Year Number of Results
1986 1
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1999 2
2000 4
2001 4
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2005 2
2006 2
2007 6
2009 3
2010 5
2011 5
2012 4
2013 10
2014 5
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107 results

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Page 1
Genetic Testing to Inform Epilepsy Treatment Management From an International Study of Clinical Practice.
McKnight D, Morales A, Hatchell KE, Bristow SL, Bonkowsky JL, Perry MS, Berg AT, Borlot F, Esplin ED, Moretz C, Angione K, Ríos-Pohl L, Nussbaum RL, Aradhya S; ELEVIATE Consortium; Haldeman-Englert CR, Levy RJ, Parachuri VG, Lay-Son G, de Montellano DJD, Ramirez-Garcia MA, Benítez Alonso EO, Ziobro J, Chirita-Emandi A, Felix TM, Kulasa-Luke D, Megarbane A, Karkare S, Chagnon SL, Humberson JB, Assaf MJ, Silva S, Zarroli K, Boyarchuk O, Nelson GR, Palmquist R, Hammond KC, Hwang ST, Boutlier SB, Nolan M, Batley KY, Chavda D, Reyes-Silva CA, Miroshnikov O, Zuccarelli B, Amlie-Wolf L, Wheless JW, Seinfeld S, Kanhangad M, Freeman JL, Monroy-Santoyo S, Rodriguez-Vazquez N, Ryan MM, Machie M, Guerra P, Hassan MJ, Candee MS, Bupp CP, Park KL, Muller E 2nd, Lupo P, Pedersen RC, Arain AM, Murphy A, Schatz K, Mu W, Kalika PM, Plaza L, Kellogg MA, Lora EG, Carson RP, Svystilnyk V, Venegas V, Luke RR, Jiang H, Stetsenko T, Dueñas-Roque MM, Trasmonte J, Burke RJ, Hurst ACE, Smith DM, Massingham LJ, Pisani L, Costin CE, Ostrander B, Filloux FM, Ananth AL, Mohamed IS, Nechai A, Dao JM, Fahey MC, Aliu E, Falchek S, Press CA, Treat L, Eschbach K, Starks A, Kammeyer R, Bear JJ, Jacobson M, Chernuha V… See abstract for full author list ➔ McKnight D, et al. Among authors: sogawa y. JAMA Neurol. 2022 Dec 1;79(12):1267-1276. doi: 10.1001/jamaneurol.2022.3651. JAMA Neurol. 2022. PMID: 36315135 Free PMC article.
Safety and efficacy of ganaxolone in patients with CDKL5 deficiency disorder: results from the double-blind phase of a randomised, placebo-controlled, phase 3 trial.
Knight EMP, Amin S, Bahi-Buisson N, Benke TA, Cross JH, Demarest ST, Olson HE, Specchio N, Fleming TR, Aimetti AA, Gasior M, Devinsky O; Marigold Trial Group. Knight EMP, et al. Lancet Neurol. 2022 May;21(5):417-427. doi: 10.1016/S1474-4422(22)00077-1. Lancet Neurol. 2022. PMID: 35429480 Clinical Trial.
A splice-switching oligonucleotide treatment ameliorates glycogen storage disease type 1a in mice with G6PC c.648G>T.
Ito K, Tajima G, Kamisato C, Tsumura M, Iwamoto M, Sekiguchi Y, Numata Y, Watanabe K, Yabe Y, Kanki S, Fujieda Y, Goto K, Sogawa Y, Oitate M, Nagase H, Tsuji S, Nishizawa T, Kakuta M, Masuda T, Onishi Y, Koizumi M, Nakamura H, Okada S, Matsuo M, Takaishi K. Ito K, et al. Among authors: sogawa y. J Clin Invest. 2023 Dec 1;133(23):e163464. doi: 10.1172/JCI163464. J Clin Invest. 2023. PMID: 37788110 Free PMC article.
Energetic Trade-Offs and Hypometabolic States Promote Disease Tolerance.
Ganeshan K, Nikkanen J, Man K, Leong YA, Sogawa Y, Maschek JA, Van Ry T, Chagwedera DN, Cox JE, Chawla A. Ganeshan K, et al. Among authors: sogawa y. Cell. 2019 Apr 4;177(2):399-413.e12. doi: 10.1016/j.cell.2019.01.050. Epub 2019 Mar 7. Cell. 2019. PMID: 30853215 Free PMC article.
Treatment outcomes of West syndrome in infants with Down syndrome.
Sanmaneechai O, Sogawa Y, Silver W, Ballaban-Gil K, Moshé SL, Shinnar S. Sanmaneechai O, et al. Among authors: sogawa y. Pediatr Neurol. 2013 Jan;48(1):42-7. doi: 10.1016/j.pediatrneurol.2012.09.006. Pediatr Neurol. 2013. PMID: 23290019 Review.
A Newborn With Hyperlactatemia and Epileptic Encephalopathy.
Obeid R, Sogawa Y, Naik M, Goldstein A, Gropman A, Asato M. Obeid R, et al. Among authors: sogawa y. Semin Pediatr Neurol. 2018 Jul;26:104-107. doi: 10.1016/j.spen.2017.05.004. Epub 2017 May 23. Semin Pediatr Neurol. 2018. PMID: 29961496
The phenotypic spectrum of WWOX-related disorders: 20 additional cases of WOREE syndrome and review of the literature.
Piard J, Hawkes L, Milh M, Villard L, Borgatti R, Romaniello R, Fradin M, Capri Y, Héron D, Nougues MC, Nava C, Arsene OT, Shears D, Taylor J, Pagnamenta A, Taylor JC, Sogawa Y, Johnson D, Firth H, Vasudevan P, Jones G, Nguyen-Morel MA, Busa T, Roubertie A, van den Born M, Brischoux-Boucher E, Koenig M, Mignot C; DDD Study; Kini U, Philippe C. Piard J, et al. Among authors: sogawa y. Genet Med. 2019 Jun;21(6):1308-1318. doi: 10.1038/s41436-018-0339-3. Epub 2018 Oct 25. Genet Med. 2019. PMID: 30356099 Free PMC article. Review.
Perinatal Licensing of Thermogenesis by IL-33 and ST2.
Odegaard JI, Lee MW, Sogawa Y, Bertholet AM, Locksley RM, Weinberg DE, Kirichok Y, Deo RC, Chawla A. Odegaard JI, et al. Among authors: sogawa y. Cell. 2016 Aug 11;166(4):841-854. doi: 10.1016/j.cell.2016.06.040. Epub 2016 Jul 21. Cell. 2016. PMID: 27453471 Free PMC article.
107 results