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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
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. Hum Mol Genet. 2023 Dec 12;33(1):12-32. doi: 10.1093/hmg/ddad154. Hum Mol Genet. 2023. PMID: 37712894 Free PMC article.
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.
Convergent cerebrospinal fluid proteomes and metabolic ontologies in humans and animal models of Rett syndrome.
Zlatic SA, Duong D, Gadalla KKE, Murage B, Ping L, Shah R, Fink JJ, Khwaja O, Swanson LC, Sahin M, Rayaprolu S, Kumar P, Rangaraju S, Bird A, Tarquinio D, Carpenter R, Cobb S, Faundez V. Zlatic SA, et al. Among authors: tarquinio d. iScience. 2022 Aug 17;25(9):104966. doi: 10.1016/j.isci.2022.104966. eCollection 2022 Sep 16. iScience. 2022. PMID: 36060065 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.
Lack of clinically relevant differences in safety and pharmacokinetics after second-dose administration of intranasal diazepam within 4 h for acute treatment of seizure clusters: A population analysis.
Cascino GD, Tarquinio D, Wheless JW, Hogan RE, Sperling MR, Desai J, Vazquez B, Samara E, Misra SN, Carrazana E, Rabinowicz AL; DIAZ.001.05 Study Group. Cascino GD, et al. Among authors: tarquinio d. Epilepsia. 2022 Jul;63(7):1714-1723. doi: 10.1111/epi.17249. Epub 2022 Apr 19. Epilepsia. 2022. PMID: 35377464 Free PMC article.
39 results