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341 results

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Page 1
GRIN2B encephalopathy: novel findings on phenotype, variant clustering, functional consequences and treatment aspects.
Platzer K, Yuan H, Schütz H, Winschel A, Chen W, Hu C, Kusumoto H, Heyne HO, Helbig KL, Tang S, Willing MC, Tinkle BT, Adams DJ, Depienne C, Keren B, Mignot C, Frengen E, Strømme P, Biskup S, Döcker D, Strom TM, Mefford HC, Myers CT, Muir AM, LaCroix A, Sadleir L, Scheffer IE, Brilstra E, van Haelst MM, van der Smagt JJ, Bok LA, Møller RS, Jensen UB, Millichap JJ, Berg AT, Goldberg EM, De Bie I, Fox S, Major P, Jones JR, Zackai EH, Abou Jamra R, Rolfs A, Leventer RJ, Lawson JA, Roscioli T, Jansen FE, Ranza E, Korff CM, Lehesjoki AE, Courage C, Linnankivi T, Smith DR, Stanley C, Mintz M, McKnight D, Decker A, Tan WH, Tarnopolsky MA, Brady LI, Wolff M, Dondit L, Pedro HF, Parisotto SE, Jones KL, Patel AD, Franz DN, Vanzo R, Marco E, Ranells JD, Di Donato N, Dobyns WB, Laube B, Traynelis SF, Lemke JR. Platzer K, et al. Among authors: mintz m. J Med Genet. 2017 Jul;54(7):460-470. doi: 10.1136/jmedgenet-2016-104509. Epub 2017 Apr 4. J Med Genet. 2017. PMID: 28377535 Free PMC article.
The variability of SMARCA4-related Coffin-Siris syndrome: Do nonsense candidate variants add to milder phenotypes?
Li D, Ahrens-Nicklas RC, Baker J, Bhambhani V, Calhoun A, Cohen JS, Deardorff MA, Fernández-Jaén A, Kamien B, Jain M, Mckenzie F, Mintz M, Motter C, Niles K, Ritter A, Rogers C, Roifman M, Townshend S, Ward-Melver C, Schrier Vergano SA. Li D, et al. Among authors: mintz m. Am J Med Genet A. 2020 Sep;182(9):2058-2067. doi: 10.1002/ajmg.a.61732. Epub 2020 Jul 20. Am J Med Genet A. 2020. PMID: 32686290
A long-term open-label extension study assessing cognition and behavior, tolerability, safety, and efficacy of adjunctive levetiracetam in children aged 4 to 16 years with partial-onset seizures.
Schiemann-Delgado J, Yang H, Loge Cde L, Stalvey TJ, Jones J, Legoff D, Mintz M. Schiemann-Delgado J, et al. Among authors: mintz m. J Child Neurol. 2012 Jan;27(1):80-9. doi: 10.1177/0883073811417183. Epub 2011 Aug 29. J Child Neurol. 2012. PMID: 21876066 Clinical Trial.
Adjunctive Perampanel Oral Suspension in Pediatric Patients From ≥2 to <12 Years of Age With Epilepsy: Pharmacokinetics, Safety, Tolerability, and Efficacy.
Renfroe JB, Mintz M, Davis R, Ferreira J, Dispoto S, Ferry J, Umetsu Y, Rege B, Majid O, Hussein Z, Laurenza A. Renfroe JB, et al. Among authors: mintz m. J Child Neurol. 2019 Apr;34(5):284-294. doi: 10.1177/0883073819827407. Epub 2019 Feb 10. J Child Neurol. 2019. PMID: 30739576 Free PMC article. Clinical Trial.
Lidocaine Ineffectiveness Suggests New Psychopharmacology Drug Target.
Mintz M, Badner V, Feldman LK, Mintz P, Saraghi M, Diaz J, Mezhebovsky I, Axelrod I, Gleeson J, Liu C, Smith C, Chow H, Zurakowski D, Segal MM. Mintz M, et al. Among authors: mintz p. Psychopharmacol Bull. 2022 Jun 27;52(3):20-30. Psychopharmacol Bull. 2022. PMID: 35815177 Free PMC article. Clinical Trial.
The child neurology clinical workforce in 2015: Report of the AAP/CNS Joint Taskforce.
Kang PB, Bale JF Jr, Mintz M, Joshi SM, Gilbert DL, Radabaugh C, Ruch-Ross H; Section on Neurology Executive Committee of the American Academy of Pediatrics, and the Board of Directors of the Child Neurology Society. Kang PB, et al. Among authors: mintz m. Neurology. 2016 Sep 27;87(13):1384-92. doi: 10.1212/WNL.0000000000003147. Epub 2016 Aug 26. Neurology. 2016. PMID: 27566740 Free PMC article.
Child neurology in the 21st century: More than the sum of our RVUs.
Zupanc ML, Cohen BH, Kang PB, Mandelbaum DE, Mink J, Mintz M, Tilton A, Trescher W. Zupanc ML, et al. Among authors: mintz m. Neurology. 2020 Jan 14;94(2):75-82. doi: 10.1212/WNL.0000000000008784. Epub 2019 Dec 24. Neurology. 2020. PMID: 31874925 Review.
341 results