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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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  1. 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 Jun; 176(6):1327-1334. PMID: 29696750.
    View in: PubMed
  2. Nickels K, Thibert R, Rau S, Demarest S, Wirrell E, Kossoff EH, Joshi C, Nangia S, Shellhaas R. How do we diagnose and treat epilepsy with myoclonic-atonic seizures (Doose syndrome)? Results of the Pediatric Epilepsy Research Consortium survey. Epilepsy Res. 2018 Aug; 144:14-19. PMID: 29729532.
    View in: PubMed
  3. 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 May; 82:74-80. PMID: 29597185.
    View in: PubMed
  4. Pollack SF, Grocott OR, Parkin KA, Larson AM, Thibert RL. Myoclonus in Angelman syndrome. Epilepsy Behav. 2018 May; 82:170-174. PMID: 29555100.
    View in: PubMed
  5. Ajayi OJ, Smith EJ, Viangteeravat T, Huang EY, Nagisetty NSVR, Urraca N, Lusk L, Finucane B, Arkilo D, Young J, Jeste S, Thibert R, 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.
    View in: PubMed
  6. 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.
    View in: PubMed
  7. 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.
    View in: PubMed
  8. 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.
    View in: PubMed
  9. 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 Apr 03; 7:45567. PMID: 28367974.
    View in: PubMed
  10. 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.
    View in: PubMed
  11. 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.
    View in: PubMed
  12. Urraca N, Potter B, Hundley R, Pivnick EK, McVicar K, Thibert RL, Ledbetter C, Chamberlain R, Miravalle L, Sirois CL, Chamberlain S, Reiter LT. A Rare Inherited 15q11.2-q13.1 Interstitial Duplication with Maternal Somatic Mosaicism, Renal Carcinoma, and Autism. Front Genet. 2016; 7:205. PMID: 27933089.
    View in: PubMed
  13. Shaaya EA, Grocott OR, Laing O, Thibert RL. Seizure treatment in Angelman syndrome: A case series from the Angelman Syndrome Clinic at Massachusetts General Hospital. Epilepsy Behav. 2016 07; 60:138-141. PMID: 27206232.
    View in: PubMed
  14. DiStefano C, Gulsrud A, Huberty S, Kasari C, Cook E, Reiter LT, Thibert R, Jeste SS. Identification of a distinct developmental and behavioral profile in children with Dup15q syndrome. J Neurodev Disord. 2016; 8:19. PMID: 27158270; PMCID: PMC4858912.
  15. McKenzie ED, Nirola DK, Deki S, Tshering L, Patenaude B, Clark SJ, Cash SS, Thibert R, Zepeda R, Leung EC, Lam AD, Lim AS, Mantia J, Cohen J, Cole AJ, Mateen FJ. Medication prescribing and patient-reported outcome measures in people with epilepsy in Bhutan. Epilepsy Behav. 2016 06; 59:122-7. PMID: 27131914.
    View in: PubMed
  16. Walker MA, Mohler KP, Hopkins KW, Oakley DH, Sweetser DA, Ibba M, Frosch MP, Thibert RL. Novel Compound Heterozygous Mutations Expand the Recognized Phenotypes of FARS2-Linked Disease. J Child Neurol. 2016 08; 31(9):1127-37. PMID: 27095821; PMCID: PMC4981184 [Available on 08/01/17].
  17. Arkilo D, Devinsky O, Mudigoudar B, Boronat S, Jennesson M, Sassower K, Vaou OE, Lerner JT, Jeste SS, Luchsinger K, Thibert R. Electroencephalographic patterns during sleep in children with chromosome 15q11.2-13.1 duplications (Dup15q). Epilepsy Behav. 2016 Apr; 57(Pt A):133-136. PMID: 26949155.
    View in: PubMed
  18. Rincon SP, Blitstein MB, Caruso PA, González RG, Thibert RL, Ratai EM. The Use of Magnetic Resonance Spectroscopy in the Evaluation of Pediatric Patients With Seizures. Pediatr Neurol. 2016 05; 58:57-66. PMID: 26948493.
    View in: PubMed
  19. Pisano T, Numis AL, Heavin SB, Weckhuysen S, Angriman M, Suls A, Podesta B, Thibert RL, Shapiro KA, Guerrini R, Scheffer IE, Marini C, Cilio MR. Early and effective treatment of KCNQ2 encephalopathy. Epilepsia. 2015 May; 56(5):685-91. PMID: 25880994.
    View in: PubMed
  20. Shaaya EA, Pollack SF, Boronat S, Davis-Cooper S, Zella GC, Thibert RL. Gastrointestinal problems in 15q duplication syndrome. Eur J Med Genet. 2015 Mar; 58(3):191-3. PMID: 25573720.
    View in: PubMed
  21. Larson AM, Shinnick JE, Shaaya EA, Thiele EA, Thibert RL. Angelman syndrome in adulthood. Am J Med Genet A. 2015 Feb; 167A(2):331-44. PMID: 25428759.
    View in: PubMed
  22. Thibert RL, Duhaime AC, Caruso PA, Stemmer-Rachamimov A. Case records of the Massachusetts General Hospital. Case 34-2014. A 7-year-old boy with focal seizures and progressive weakness. N Engl J Med. 2014 Oct 30; 371(18):1737-46. PMID: 25354108.
    View in: PubMed
  23. Boronat S, Mehan WA, Shaaya EA, Thibert RL, Caruso P. Hippocampal abnormalities in magnetic resonance imaging (MRI) of 15q duplication syndromes. J Child Neurol. 2015 Mar; 30(3):333-8. PMID: 24985752.
    View in: PubMed
  24. Tan WH, Bird LM, Thibert RL, Williams CA. If not Angelman, what is it? A review of Angelman-like syndromes. Am J Med Genet A. 2014 Apr; 164A(4):975-92. PMID: 24779060.
    View in: PubMed
  25. Conant KD, Finucane B, Cleary N, Martin A, Muss C, Delany M, Murphy EK, Rabe O, Luchsinger K, Spence SJ, Schanen C, Devinsky O, Cook EH, LaSalle J, Reiter LT, Thibert RL. A survey of seizures and current treatments in 15q duplication syndrome. Epilepsia. 2014 Mar; 55(3):396-402. PMID: 24502430.
    View in: PubMed
  26. Caruso PA, Johnson J, Thibert R, Rapalino O, Rincon S, Ratai EM. The use of magnetic resonance spectroscopy in the evaluation of epilepsy. Neuroimaging Clin N Am. 2013 Aug; 23(3):407-24. PMID: 23928197.
    View in: PubMed
  27. Shaaya EA, Hirshberg JS, Rabe OT, Thibert RL, Inglessis I, Sharma A, Thiele EA. Cardiac fat-containing lesions are common in tuberous sclerosis complex. Am J Med Genet A. 2013 Jul; 161A(7):1662-5. PMID: 23703751.
    View in: PubMed
  28. Thibert RL, Larson AM, Hsieh DT, Raby AR, Thiele EA. Neurologic manifestations of Angelman syndrome. Pediatr Neurol. 2013 Apr; 48(4):271-9. PMID: 23498559.
    View in: PubMed
  29. Urraca N, Cleary J, Brewer V, Pivnick EK, McVicar K, Thibert RL, Schanen NC, Esmer C, Lamport D, Reiter LT. The interstitial duplication 15q11.2-q13 syndrome includes autism, mild facial anomalies and a characteristic EEG signature. Autism Res. 2013 Aug; 6(4):268-79. PMID: 23495136; PMCID: PMC3884762.
  30. van Eeghen AM, Pulsifer MB, Merker VL, Neumeyer AM, van Eeghen EE, Thibert RL, Cole AJ, Leigh FA, Plotkin SR, Thiele EA. Understanding relationships between autism, intelligence, and epilepsy: a cross-disorder approach. Dev Med Child Neurol. 2013 Feb; 55(2):146-53. PMID: 23205844; PMCID: PMC4071146.
  31. Thibert RL, Pfeifer HH, Larson AM, Raby AR, Reynolds AA, Morgan AK, Thiele EA. Low glycemic index treatment for seizures in Angelman syndrome. Epilepsia. 2012 Sep; 53(9):1498-502. PMID: 22779920.
    View in: PubMed
  32. Larson AM, Ryther RC, Jennesson M, Geffrey AL, Bruno PL, Anagnos CJ, Shoeb AH, Thibert RL, Thiele EA. Impact of pediatric epilepsy on sleep patterns and behaviors in children and parents. Epilepsia. 2012 Jul; 53(7):1162-9. PMID: 22594377.
    View in: PubMed
  33. Thibert R, Hyland K, Chiles J, Steinberg S, Eichler F. Levodopa response reveals sepiapterin reductase deficiency in a female heterozygote with adrenoleukodystrophy. JIMD Rep. 2012; 3:79-82. PMID: 23430877; PMCID: PMC3509860.
  34. van Eeghen AM, Numis AI, Staley BA, Therrien SE, Thibert RL, Thiele EA. Characterizing sleep disorders of adults with tuberous sclerosis complex: a questionnaire-based study and review. Epilepsy Behav. 2011 Jan; 20(1):68-74. PMID: 21130696; PMCID: PMC3439194.
  35. RL Thibert, E Thiele. Seizures in Individuas with Chromosome 15q Duplications. Epilepsia. 2009; 50(s10).
  36. PL Bruno, P Venna, J Hirshberg, R Thibert, E Thiele. Clinical Experience with Rufinamide (Banzel) in Patients with Intractable Epilepsy. Epilepsia. 2009; 50(s10).
  37. J Paolini, CJ Chu-Shore, C Macdonald, P Bruno, R Thibert, E Thiele. Adverse events associated with anticonvulsant drug formulation substitution in pediatric and adult epilepsy patients. Epilepsia. 2009; 50(s10).
  38. A Gallagher, CJ Chu-Shore, N Roche-Labarbe, A Surova, MA Franceschini, RL Thibert, SS Cash, EA Thiele, PE Grant. Pre and post-anticonvulsant treatment changes in interictal cerebral oxygenation and neuronal activity in infants with infantile spasms. Epilepsia. 2009; 50(s10).
  39. Conant KD, Thibert RL, Thiele EA. Epilepsy and the sleep-wake patterns found in Angelman syndrome. Epilepsia. 2009 Nov; 50(11):2497-500. PMID: 19453716.
    View in: PubMed
  40. Thibert RL, Conant KD, Braun EK, Bruno P, Said RR, Nespeca MP, Thiele EA. Epilepsy in Angelman syndrome: a questionnaire-based assessment of the natural history and current treatment options. Epilepsia. 2009 Nov; 50(11):2369-76. PMID: 19453717.
    View in: PubMed
  41. Ronald Thibert DO, MsPH, and Elizabeth Thiele, MD, PhD. Epilepsy and Risk of Drowning. Journal Watch, Neurology. 2009; 11(2):12.
  42. Thibert RL, Burns JD, Bhadelia R, Takeoka M. Reversible uncal herniation in a neonate with a large MCA infarct. Brain Dev. 2009 Nov; 31(10):763-5. PMID: 19097834.
    View in: PubMed
  43. Thibert R, Thiele E. The Significance of EEG findings in Angelman Syndrome. Epilepsia. 2008; 49(s7).
  44. Numis A, Staley B, Thibert R, Thiele E. Sleep Disorders in Epilepsy and Tuberous Sclerosis Complex. Epilepsia. 2008; 49(s7).
  45. Michaelides C, Thibert RL, Shapiro MJ, Kinirons P, John T, Manchharam D, Thiele EA. Tolerability and dosing experience of intravenous levetiracetam in children and infants. Epilepsy Res. 2008 Oct; 81(2-3):143-7. PMID: 18571898.
    View in: PubMed
  46. Thibert R; Conant K; Braun E; Bruno P, Nespeca M; Said R; Thiele E. Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  47. Bruno P; Conant K; Thibert R; Braun E; Nespeca M; Said R; Thiele E. Treatment of Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  48. Conant K, Thibert R, Thiele E. Sleep Disturbances and Epilepsy in Angelman Syndrome. Epilepsia. 2007; 48(s6).
  49. Thibert, RL. The Effects of dietary trans fatty acids on serum lipid and lipoprotein levels in the Framingham Study. 1996.
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