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Toward the elimination of bias in Pediatric Research.
Bearer C, Agostoni C, Anand KJS, Ambalavanan N, Bhandari V, Bliss JM, Bloomfield F, Bonifacio SL, Buhimschi I, Cilio MR, Coppes M, Czinn SJ, El-Khuffash A, Embleton N, Felderhoff-Müser U, Ferriero DM, Florin T, Fuentes-Afflick E, Gardner W, Gospe SM Jr, Gunn A, Gressens P, Guissani D, Haiden N, Hauptman M, Kim KS, Klebanoff M, Lachman P, Lanphear B, Ozen S, Roehr C, Roland D, Rosenblum N, Schwarz M, Staiano A, Stroustrup A, Valente EM, Wilson-Costello D, Wynn J, Molloy E. Bearer C, et al. Among authors: gospe sm jr. Pediatr Res. 2019 Dec;86(6):680-681. doi: 10.1038/s41390-019-0583-5. Epub 2019 Sep 18. Pediatr Res. 2019. PMID: 31533126 No abstract available.
Telemedicine and Child Neurology.
Lo MD, Gospe SM Jr. Lo MD, et al. Among authors: gospe sm jr. J Child Neurol. 2019 Jan;34(1):22-26. doi: 10.1177/0883073818807516. Epub 2018 Nov 5. J Child Neurol. 2019. PMID: 30394826 Review.
The genotypic spectrum of ALDH7A1 mutations resulting in pyridoxine dependent epilepsy: A common epileptic encephalopathy.
Coughlin CR 2nd, Swanson MA, Spector E, Meeks NJL, Kronquist KE, Aslamy M, Wempe MF, van Karnebeek CDM, Gospe SM Jr, Aziz VG, Tsai BP, Gao H, Nagy PL, Hyland K, van Dooren SJM, Salomons GS, Van Hove JLK. Coughlin CR 2nd, et al. Among authors: gospe sm jr. J Inherit Metab Dis. 2019 Mar;42(2):353-361. doi: 10.1002/jimd.12045. Epub 2019 Feb 22. J Inherit Metab Dis. 2019. PMID: 30043187 Free PMC article. Review.
Developmental outcome in pyridoxine-dependent epilepsy: Better late (onset) than early.
Gospe SM Jr. Gospe SM Jr. Eur J Paediatr Neurol. 2018 Jul;22(4):575-576. doi: 10.1016/j.ejpn.2018.05.004. Epub 2018 May 22. Eur J Paediatr Neurol. 2018. PMID: 29887411 No abstract available.
Geometric morphometrics reveal altered corpus callosum shape in pyridoxine-dependent epilepsy.
Oesch G, Maga AM, Friedman SD, Poliachik SL, Budech CB, Wright JN, Bok LA, Gospe SM Jr. Oesch G, et al. Among authors: gospe sm jr. Neurology. 2018 Jul 3;91(1):e78-e86. doi: 10.1212/WNL.0000000000005748. Epub 2018 Jun 6. Neurology. 2018. PMID: 29875223
The Pediatric Neurology Trainee Publication Award for 2015.
Weisleder P, Gospe SM Jr, Ng YT, Sahin M. Weisleder P, et al. Among authors: gospe sm jr. Pediatr Neurol. 2016 Oct;63:1-2. doi: 10.1016/j.pediatrneurol.2016.07.004. Epub 2016 Jul 16. Pediatr Neurol. 2016. PMID: 28847386 No abstract available.
Pyridoxine-Dependent Epilepsy.
Gospe SM Jr. Gospe SM Jr. 2001 Dec 7 [updated 2017 Apr 13]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 20301659 Free Books & Documents. Review.
Dystonia/Parkinsonism, Hypermanganesemia, Polycythemia, and Chronic Liver Disease.
Tuschl K, Clayton PT, Gospe SM Jr, Mills PB. Tuschl K, et al. Among authors: gospe sm jr. 2012 Aug 30 [updated 2017 Feb 9]. In: Adam MP, Ardinger HH, Pagon RA, Wallace SE, Bean LJH, Stephens K, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2020. GeneReviews®. 1993–2020. PMID: 22934317 Free Books & Documents. Review.
Syndrome of Hepatic Cirrhosis, Dystonia, Polycythemia, and Hypermanganesemia Caused by Mutations in SLC30A10, a Manganese Transporter in Man.
Tuschl K, Clayton PT, Gospe SM Jr, Gulab S, Ibrahim S, Singhi P, Aulakh R, Ribeiro RT, Barsottini OG, Zaki MS, Del Rosario ML, Dyack S, Price V, Rideout A, Gordon K, Wevers RA, Chong WK, Mills PB. Tuschl K, et al. Among authors: gospe sm jr. Am J Hum Genet. 2016 Aug 4;99(2):521. doi: 10.1016/j.ajhg.2016.07.015. Am J Hum Genet. 2016. PMID: 27486784 Free PMC article. No abstract available.
Dramatic Response After Lamotrigine in a Patient With Epileptic Encephalopathy and a De NovoCACNA1A Variant.
Byers HM, Beatty CW, Hahn SH, Gospe SM Jr. Byers HM, et al. Among authors: gospe sm jr. Pediatr Neurol. 2016 Jul;60:79-82. doi: 10.1016/j.pediatrneurol.2016.03.012. Epub 2016 Apr 1. Pediatr Neurol. 2016. PMID: 27212419 Free PMC article.
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