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Page 1
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.
Epilepsy as a Novel Phenotype of BPTF-Related Disorders.
Ferretti A, Furlan M, Glinton KE, Fenger CD, Boschann F, Amlie-Wolf L, Zeidler S, Moretti R, Stoltenburg C, Tarquinio DC, Furia F, Parisi P, Rubboli G, Devinsky O, Mignot C, Gripp KW, Møller RS, Yang Y, Stankiewicz P, Gardella E. Ferretti A, et al. Among authors: tarquinio dc. Pediatr Neurol. 2024 Sep;158:17-25. doi: 10.1016/j.pediatrneurol.2024.06.001. Epub 2024 Jun 11. Pediatr Neurol. 2024. PMID: 38936258
Rett Syndrome: Crossing the Threshold to Clinical Translation.
Katz DM, Bird A, Coenraads M, Gray SJ, Menon DU, Philpot BD, Tarquinio DC. Katz DM, et al. Among authors: tarquinio dc. Trends Neurosci. 2016 Feb;39(2):100-113. doi: 10.1016/j.tins.2015.12.008. Trends Neurosci. 2016. PMID: 26830113 Free PMC article. Review.
Reply to Oberman et al.
Hou W, Tarquinio DC. Hou W, et al. Among authors: tarquinio dc. Pediatr Neurol. 2020 Oct;111:88. doi: 10.1016/j.pediatrneurol.2020.08.015. Epub 2020 Aug 22. Pediatr Neurol. 2020. PMID: 32921537 No abstract available.
Systemic proteome phenotypes reveal defective metabolic flexibility in Mecp2 mutants.
Zlatic SA, Werner E, Surapaneni V, Lee CE, Gokhale A, Singleton K, Duong D, Crocker A, Gentile K, Middleton F, Dalloul JM, Liu WL, Patgiri A, Tarquinio D, Carpenter R, Faundez V. Zlatic SA, et al. Among authors: tarquinio d. Hum Mol Genet. 2023 Dec 12;33(1):12-32. doi: 10.1093/hmg/ddad154. Hum Mol Genet. 2023. PMID: 37712894 Free PMC article.
Triheptanoin Did Not Show Benefit versus Placebo for the Treatment of Paroxysmal Movement Disorders in Glut1 Deficiency Syndrome: Results of a Randomized Phase 3 Study.
De Giorgis V, Bhatia KP, Boespflug-Tanguy O, Gras D, Marina AD, Desurkar A, Toledo M, Miller I, Rotstein M, Schneider SA, Tarquinio DC, Weber Y, Brandabur M, Mayhew J, Koutsoukos T, De Vivo DC. De Giorgis V, et al. Among authors: tarquinio dc. Mov Disord. 2024 Aug;39(8):1386-1396. doi: 10.1002/mds.29822. Epub 2024 May 9. Mov Disord. 2024. PMID: 38725190 Clinical Trial.
Systemic Proteome Phenotypes Reveal Defective Metabolic Flexibility in Mecp2 Mutants.
Zlatic SA, Werner E, Surapaneni V, Lee CE, Gokhale A, Singleton K, Duong D, Crocker A, Gentile K, Middleton F, Dalloul JM, Liu WL, Patgiri A, Tarquinio D, Carpenter R, Faundez V. Zlatic SA, et al. Among authors: tarquinio d. bioRxiv [Preprint]. 2023 Sep 1:2023.04.03.535431. doi: 10.1101/2023.04.03.535431. bioRxiv. 2023. Update in: Hum Mol Genet. 2023 Dec 12;33(1):12-32. doi: 10.1093/hmg/ddad154 PMID: 37066332 Free PMC article. Updated. Preprint.
Growth charts for 22q11 deletion syndrome.
Tarquinio DC, Jones MC, Jones KL, Bird LM. Tarquinio DC, et al. Am J Med Genet A. 2012 Nov;158A(11):2672-81. doi: 10.1002/ajmg.a.35485. Epub 2012 Aug 6. Am J Med Genet A. 2012. PMID: 22887711
39 results