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116 results

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Efficacy, safety, and tolerability of soticlestat as adjunctive therapy for the treatment of seizures in patients with Dup15q syndrome or CDKL5 deficiency disorder in an open-label signal-finding phase II study (ARCADE).
Demarest S, Jeste S, Agarwal N, Arkilo D, Asgharnejad M, Hsiao S, Thibert R. Demarest S, et al. Among authors: thibert r. Epilepsy Behav. 2023 May;142:109173. doi: 10.1016/j.yebeh.2023.109173. Epub 2023 Apr 1. Epilepsy Behav. 2023. PMID: 37011526 Free article. Clinical Trial.
EEG features of 15q duplication syndrome.
Sheikh IS, Nascimento FA, Thiele E, Thibert R. Sheikh IS, et al. Among authors: thibert r. Epileptic Disord. 2022 Aug 1;24(4):735-736. doi: 10.1684/epd.2022.1447. Epileptic Disord. 2022. PMID: 35770771 English. No abstract available.
Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome.
Spencer ER, Shi W, Komorowski RW, Gilbert JP, Ostrowski LM, Bird LM, Thibert R, Bao C, Molloy F, Calhoun M, Koirala S, Jafar-Nejad P, Rigo F, Kramer MA, Chu CJ. Spencer ER, et al. Among authors: thibert r. Brain Commun. 2022 Apr 26;4(3):fcac106. doi: 10.1093/braincomms/fcac106. eCollection 2022. Brain Commun. 2022. PMID: 35611307 Free PMC article.
A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome.
Duis J, Nespeca M, Summers J, Bird L, Bindels-de Heus KGCB, Valstar MJ, de Wit MY, Navis C, Ten Hooven-Radstaake M, van Iperen-Kolk BM, Ernst S, Dendrinos M, Katz T, Diaz-Medina G, Katyayan A, Nangia S, Thibert R, Glaze D, Keary C, Pelc K, Simon N, Sadhwani A, Heussler H, Wheeler A, Woeber C, DeRamus M, Thomas A, Kertcher E, DeValk L, Kalemeris K, Arps K, Baym C, Harris N, Gorham JP, Bohnsack BL, Chambers RC, Harris S, Chambers HG, Okoniewski K, Jalazo ER, Berent A, Bacino CA, Williams C, Anderson A. Duis J, et al. Among authors: thibert r. Mol Genet Genomic Med. 2022 Mar;10(3):e1843. doi: 10.1002/mgg3.1843. Epub 2022 Feb 11. Mol Genet Genomic Med. 2022. PMID: 35150089 Free PMC article. Review.
Parent Description of Anxiety in Angelman Syndrome.
Keary CJ, Mullett JE, Nowinski L, Wagner K, Walsh B, Saro HK, Erhabor G, Thibert RL, McDougle CJ, Ravichandran CT. Keary CJ, et al. Among authors: thibert rl. J Autism Dev Disord. 2022 Aug;52(8):3612-3625. doi: 10.1007/s10803-021-05238-8. Epub 2021 Aug 20. J Autism Dev Disord. 2022. PMID: 34417655
Delta power robustly predicts cognitive function in Angelman syndrome.
Ostrowski LM, Spencer ER, Bird LM, Thibert R, Komorowski RW, Kramer MA, Chu CJ. Ostrowski LM, et al. Among authors: thibert r. Ann Clin Transl Neurol. 2021 Jul;8(7):1433-1445. doi: 10.1002/acn3.51385. Epub 2021 May 28. Ann Clin Transl Neurol. 2021. PMID: 34047077 Free PMC article. Clinical Trial.
Teaching NeuroImage: Notched Delta and Angelman Syndrome.
Nascimento FA, Thiele EA, Thibert RL. Nascimento FA, et al. Among authors: thibert rl. Neurology. 2021 Oct 11;97(15):e1543-e1544. doi: 10.1212/WNL.0000000000012201. Neurology. 2021. PMID: 34031203 No abstract available.
The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome.
Bird LM, Ochoa-Lubinoff C, Tan WH, Heimer G, Melmed RD, Rakhit A, Visootsak J, During MJ, Holcroft C, Burdine RD, Kolevzon A, Thibert RL. Bird LM, et al. Among authors: thibert rl. Neurology. 2021 Feb 16;96(7):e1024-e1035. doi: 10.1212/WNL.0000000000011409. Epub 2020 Dec 21. Neurology. 2021. PMID: 33443117 Free PMC article. Clinical Trial.
116 results