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Ronald L. Thibert, D.O.

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Publications listed below are automatically derived from MEDLINE/PubMed and other sources, which might result in incorrect or missing publications. Faculty can login to make corrections and additions.
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Displaying 25 of 63 total Publications Show all
  1. Demarest S, Jeste S, Agarwal N, Arkilo D, Asgharnejad M, Hsiao S, Thibert R. 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). Epilepsy Behav. 2023 05; 142:109173. PMID: 37011526.
    Citations: 3
    Fields: BehBehavioral SciencesNeuNeurologyTranslation:HumansCTClinical Trials
  2. Sheikh IS, Nascimento FA, Thiele E, Thibert R. EEG features of 15q duplication syndrome Epileptic Disord. 2022 08 01; 24(4):735-736. PMID: 35770771.
    Citations:
    Fields: BraBrainNeuNeurologyTranslation:Humans
  3. 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. Longitudinal EEG model detects antisense oligonucleotide treatment effect and increased UBE3A in Angelman syndrome. Brain Commun. 2022; 4(3):fcac106. PMID: 35611307; PMCID: PMC9123847.
    Citations: 4
  4. 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. A multidisciplinary approach and consensus statement to establish standards of care for Angelman syndrome. Mol Genet Genomic Med. 2022 03; 10(3):e1843. PMID: 35150089; PMCID: PMC8922964.
    Citations: 10
    Fields: GenGenetics, MedicalMolMolecular BiologyTranslation:Humans
  5. Nascimento FA, Thiele EA, Thibert RL. Teaching NeuroImage: Notched Delta and Angelman Syndrome. Neurology. 2021 Oct 11; 97(15):e1543-e1544. PMID: 34031203.
    Citations: 3
    Fields: NeuNeurology
  6. Keary CJ, Mullett JE, Nowinski L, Wagner K, Walsh B, Saro HK, Erhabor G, Thibert RL, McDougle CJ, Ravichandran CT. Parent Description of Anxiety in Angelman Syndrome. J Autism Dev Disord. 2022 Aug; 52(8):3612-3625. PMID: 34417655.
    Citations: 3
    Fields: PedPediatricsPsyPsychiatryTranslation:Humans
  7. Ostrowski LM, Spencer ER, Bird LM, Thibert R, Komorowski RW, Kramer MA, Chu CJ. Delta power robustly predicts cognitive function in Angelman syndrome. Ann Clin Transl Neurol. 2021 07; 8(7):1433-1445. PMID: 34047077; PMCID: PMC8283185.
    Citations: 11
    Fields: NeuNeurologyTranslation:HumansCTClinical Trials
  8. 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. The STARS Phase 2 Study: A Randomized Controlled Trial of Gaboxadol in Angelman Syndrome. Neurology. 2021 02 16; 96(7):e1024-e1035. PMID: 33443117.
    Citations: 7
    Fields: NeuNeurologyTranslation:Humans
  9. Keute M, Miller MT, Krishnan ML, Sadhwani A, Chamberlain S, Thibert RL, Tan WH, Bird LM, Hipp JF. Angelman syndrome genotypes manifest varying degrees of clinical severity and developmental impairment. Mol Psychiatry. 2021 07; 26(7):3625-3633. PMID: 32792659; PMCID: PMC8505254.
    Citations: 28
    Fields: MolMolecular BiologyPsyPsychiatryTranslation:HumansCells
  10. Grocott O, Phanor SK, Fung F, Thibert RL, Berkmen MB. Clinical report and biochemical analysis of a patient with fumarate hydratase deficiency. Am J Med Genet A. 2020 03; 182(3):504-507. PMID: 31746132.
    Citations: 1
    Fields: GenGenetics, MedicalTranslation:Humans
  11. DiStefano C, Wilson RB, Hyde C, Cook EH, Thibert RL, Reiter LT, Vogel-Farley V, Hipp J, Jeste S. Behavioral characterization of dup15q syndrome: Toward meaningful endpoints for clinical trials. Am J Med Genet A. 2020 01; 182(1):71-84. PMID: 31654560; PMCID: PMC7334030.
    Citations: 15
    Fields: GenGenetics, MedicalTranslation:HumansCells
  12. Balaj K, Nowinski L, Walsh B, Mullett J, Palumbo ML, Thibert RL, McDougle CJ, Keary CJ. Buspirone for the treatment of anxiety-related symptoms in Angelman syndrome: a case series. Psychiatr Genet. 2019 04; 29(2):51-56. PMID: 30681431.
    Citations: 4
    Fields: GenGeneticsPsyPsychiatryTranslation:Humans
  13. Zollino M, Zweier C, Van Balkom ID, Sweetser DA, Alaimo J, Bijlsma EK, Cody J, Elsea SH, Giurgea I, Macchiaiolo M, Smigiel R, Thibert RL, Benoist I, Clayton-Smith J, De Winter CF, Deckers S, Gandhi A, Huisman S, Kempink D, Kruisinga F, Lamacchia V, Marangi G, Menke L, Mulder P, Nordgren A, Renieri A, Routledge S, Saunders CJ, Stembalska A, Van Balkom H, Whalen S, Hennekam RC. Diagnosis and management in Pitt-Hopkins syndrome: First international consensus statement. Clin Genet. 2019 04; 95(4):462-478. PMID: 30677142.
    Citations: 28
    Fields: GenGenetics, MedicalTranslation:Humans
  14. Gorman MP, Gombolay GY, Mehan WA, Thibert RL. Case 27-2018: A 3-Year-Old Boy with Seizures. N Engl J Med. 2018 Aug 30; 379(9):870-878. PMID: 30157393.
    Citations:
    Fields: MedMedicine (General)Translation:Humans
  15. Prasad A, Grocott O, Parkin K, Larson A, Thibert RL. Angelman syndrome in adolescence and adulthood: A retrospective chart review of 53 cases. Am J Med Genet A. 2018 06; 176(6):1327-1334. PMID: 29696750.
    Citations: 16
    Fields: GenGenetics, MedicalTranslation:Humans
  16. Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, Joshi C, Nangia S, Shellhaas R, Pediatric Epilepsy Research Consortium. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. Epilepsy Res. 2018 08; 144:14-19. PMID: 29729532.
    Citations: 6
    Fields: BraBrainNeuNeurologyTranslation:Humans
  17. Worden L, Grocott O, Tourjee A, Chan F, Thibert R. Diazepam for outpatient treatment of nonconvulsive status epilepticus in pediatric patients with Angelman syndrome. Epilepsy Behav. 2018 05; 82:74-80. PMID: 29597185.
    Citations: 3
    Fields: BehBehavioral SciencesNeuNeurologyTranslation:Humans
  18. Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus in Angelman syndrome. Epilepsy Behav. 2018 05; 82:170-174. PMID: 29555100.
    Citations: 5
    Fields: BehBehavioral SciencesNeuNeurologyTranslation:Humans
  19. Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R, Dup15q Alliance, Reiter LT. Multisite Semiautomated Clinical Data Repository for Duplication 15q Syndrome: Study Protocol and Early Uses. JMIR Res Protoc. 2017 Oct 18; 6(10):e194. PMID: 29046268; PMCID: PMC5666222.
    Citations: 1
  20. Glassman LW, Grocott OR, Kunz PA, Larson AM, Zella G, Ganguli K, Thibert RL. Prevalence of gastrointestinal symptoms in Angelman syndrome. Am J Med Genet A. 2017 Oct; 173(10):2703-2709. PMID: 28816003.
    Citations: 14
    Fields: GenGenetics, MedicalTranslation:Humans
  21. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. Erratum to: Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:30. PMID: 28725279.
    Citations: 1
    Fields: NeuNeurologyPsyPsychiatry
  22. Sidorov MS, Deck GM, Dolatshahi M, Thibert RL, Bird LM, Chu CJ, Philpot BD. Delta rhythmicity is a reliable EEG biomarker in Angelman syndrome: a parallel mouse and human analysis. J Neurodev Disord. 2017; 9:17. PMID: 28503211.
    Citations: 52
    Fields: NeuNeurologyPsyPsychiatry
  23. McKenzie ED, Lim AS, Leung EC, Cole AJ, Lam AD, Eloyan A, Nirola DK, Tshering L, Thibert R, Garcia RZ, Bui E, Deki S, Lee L, Clark SJ, Cohen JM, Mantia J, Brizzi KT, Sorets TR, Wahlster S, Borzello M, Stopczynski A, Cash SS, Mateen FJ. Validation of a smartphone-based EEG among people with epilepsy: A prospective study. Sci Rep. 2017 04 03; 7:45567. PMID: 28367974; PMCID: PMC5377373.
    Citations: 17
    Fields: SciScienceTranslation:Humans
  24. Grocott OR, Herrington KS, Pfeifer HH, Thiele EA, Thibert RL. Low glycemic index treatment for seizure control in Angelman syndrome: A case series from the Center for Dietary Therapy of Epilepsy at the Massachusetts General Hospital. Epilepsy Behav. 2017 03; 68:45-50. PMID: 28109989.
    Citations: 17
    Fields: BehBehavioral SciencesNeuNeurologyTranslation:HumansPHPublic Health
  25. Frohlich J, Senturk D, Saravanapandian V, Golshani P, Reiter LT, Sankar R, Thibert RL, DiStefano C, Huberty S, Cook EH, Jeste SS. A Quantitative Electrophysiological Biomarker of Duplication 15q11.2-q13.1 Syndrome. PLoS One. 2016; 11(12):e0167179. PMID: 27977700.
    Citations: 30
    Fields: MedMedicine (General)SciScienceTranslation:HumansCells
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Funded by the NIH National Center for Advancing Translational Sciences through its Clinical and Translational Science Awards Program, grant number UL1TR002541.