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Page 1
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.
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.
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.
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
Placebo-controlled crossover assessment of mecasermin for the treatment of Rett syndrome.
O'Leary HM, Kaufmann WE, Barnes KV, Rakesh K, Kapur K, Tarquinio DC, Cantwell NG, Roche KJ, Rose SA, Walco AC, Bruck NM, Bazin GA, Holm IA, Alexander ME, Swanson LC, Baczewski LM, Poon C, Mayor Torres JM, Nelson CA 3rd, Sahin M. O'Leary HM, et al. Among authors: tarquinio dc. Ann Clin Transl Neurol. 2018 Jan 31;5(3):323-332. doi: 10.1002/acn3.533. eCollection 2018 Mar. Ann Clin Transl Neurol. 2018. PMID: 29560377 Free PMC article.
The course of awake breathing disturbances across the lifespan in Rett syndrome.
Tarquinio DC, Hou W, Neul JL, Berkmen GK, Drummond J, Aronoff E, Harris J, Lane JB, Kaufmann WE, Motil KJ, Glaze DG, Skinner SA, Percy AK. Tarquinio DC, et al. Brain Dev. 2018 Aug;40(7):515-529. doi: 10.1016/j.braindev.2018.03.010. Epub 2018 Apr 12. Brain Dev. 2018. PMID: 29657083 Free PMC article.
Pubertal development in Rett syndrome deviates from typical females.
Killian JT, Lane JB, Cutter GR, Skinner SA, Kaufmann WE, Tarquinio DC, Glaze DG, Motil KJ, Neul JL, Percy AK. Killian JT, et al. Among authors: tarquinio dc. Pediatr Neurol. 2014 Dec;51(6):769-75. doi: 10.1016/j.pediatrneurol.2014.08.013. Epub 2014 Aug 29. Pediatr Neurol. 2014. PMID: 25283752 Free PMC article. Clinical Trial.
21 results