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Elizabeth Anne Thiele, Ph.D., M.D.

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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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PMC Citations indicate the number of times the publication was cited by articles in PubMed Central, and the Altmetric score represents citations in news articles and social media. (Note that publications are often cited in additional ways that are not shown here.) Fields are based on how the National Library of Medicine (NLM) classifies the publication's journal and might not represent the specific topic of the publication. Translation tags are based on the publication type and the MeSH terms NLM assigns to the publication. Some publications (especially newer ones and publications not in PubMed) might not yet be assigned Field or Translation tags.) Click a Field or Translation tag to filter the publications.
  1. Coker SM, Box EK, Stilwell N, Thiele EA, Cotton JA, Haynes E, Yabsley MJ, Cleveland CA. Development and validation of a quantitative PCR for the detection of Guinea worm (Dracunculus medinensis). PLoS Negl Trop Dis. 2022 10; 16(10):e0010830. PMID: 36206300; PMCID: PMC9581357.
    Citations:    Fields:    Translation:HumansAnimals
  2. Nascimento FA, Melendez-Zaidi A, Swoyer B, Thiele EA. Patient and provider perspectives on transition of care for patients with epilepsy Epileptic Disord. 2022 10 01; 24(5):969-971. PMID: 35872624.
    Citations:    Fields:    Translation:Humans
  3. Nascimento FA, McLaren JR, Musolino PL, Thiele EA. Teaching NeuroImage: Needle-like Occipital Spikes in Children With Visual Impairment. Neurology. 2022 09 20; 99(12):537-538. PMID: 35918165; PMCID: PMC9576295.
    Citations:    Fields:    Translation:Humans
  4. 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:    Translation:Humans
  5. Nascimento FA, Thiele EA, Weber DJ. Diagnosing Lennox-Gastaut syndrome in an adult and its direct impact in epilepsy care Epileptic Disord. 2022 08 01; 24(4):729-732. PMID: 35770769.
    Citations:    Fields:    Translation:Humans
  6. Evans LM, Geenen KR, O'Shea A, Hedgire SS, Ferrone CR, Thiele EA. Tuberous sclerosis complex-associated nonfunctional pancreatic neuroendocrine tumors: Management and surgical outcomes. Am J Med Genet A. 2022 Sep; 188(9):2666-2671. PMID: 35612824.
    Citations:    Fields:    
  7. Herlopian A, Barnett JR, Nascimento FA, Lee H, Thiele EA. Electroencephalographic changes in purified pharmaceutical cannabidiol therapy. Epilepsy Behav. 2022 03; 128:108558. PMID: 35078115.
    Citations:    Fields:    Translation:Humans
  8. Wu F, McGarrey MP, Geenen KR, Skalet AH, Guillot FH, Wilson JL, Shah AS, Gonzalez E, Thiele EA, Kim IK, Aronow ME. Treatment of Aggressive Retinal Astrocytic Hamartoma with Oral Mechanistic Target of Rapamycin Inhibition. Ophthalmol Retina. 2022 05; 6(5):411-420. PMID: 35007768.
    Citations: 1     Fields:    Translation:Humans
  9. Thiele EA, Bebin EM, Filloux F, Kwan P, Loftus R, Sahebkar F, Sparagana S, Wheless J. Long-term cannabidiol treatment for seizures in patients with tuberous sclerosis complex: An open-label extension trial. Epilepsia. 2022 02; 63(2):426-439. PMID: 34957550; PMCID: PMC9305454.
    Citations: 1     Fields:    Translation:HumansCTClinical Trials
  10. McLaren JR, Nascimento FA, Thiele EA. Teaching Video NeuroImage: Reflex Epilepsy: Seizures Induced by Vigorous Exercise. Neurology. 2022 02 22; 98(8):e875. PMID: 34906978.
    Citations:    Fields:    Translation:Humans
  11. Guagliardo SAJ, Thiele E, Unterwegner K, Narcisse Nanguita N, Dossou L, Tchindebet Ouakou P, Zirimwabagabo H, Ruiz-Tiben E, Hopkins DR, Roy SL, Cama V, Bishop H, Sapp S, Yerian S, Weiss AJ. Epidemiological and molecular investigations of a point-source outbreak of Dracunculus medinensis infecting humans and dogs in Chad: a cross-sectional study. Lancet Microbe. 2022 02; 3(2):e105-e112. PMID: 35544041.
    Citations:    Translation:HumansAnimalsPHPublic Health
  12. Klonowska K, Thiele EA, Grevelink JM, Thorner AR, Kwiatkowski DJ. Sporadic facial angiofibroma and sporadic angiomyolipoma mimicking tuberous sclerosis complex. J Med Genet. 2022 09; 59(9):920-923. PMID: 34635572.
    Citations:    Fields:    
  13. Barnett JR, Freedman JH, Zheng H, Thiele EA, Caruso P. Growth Curves of Subependymal Giant Cell Tumors in Tuberous Sclerosis Complex. AJNR Am J Neuroradiol. 2021 10; 42(10):1891-1897. PMID: 34615647; PMCID: PMC8562760.
    Citations:    Fields:    Translation:Humans
  14. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Correction: Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2021 Oct; 23(10):2022. PMID: 33353975.
    Citations:    Fields:    
  15. Ribado JV, Li NJ, Thiele E, Lyons H, Cotton JA, Weiss A, Tchindebet Ouakou P, Moundai T, Zirimwabagabo H, Guagliardo SAJ, Chabot-Couture G, Proctor JL. Linked surveillance and genetic data uncovers programmatically relevant geographic scale of Guinea worm transmission in Chad. PLoS Negl Trop Dis. 2021 07; 15(7):e0009609. PMID: 34310598.
    Citations:    Fields:    Translation:HumansAnimalsPHPublic Health
  16. Northrup H, Aronow ME, Bebin EM, Bissler J, Darling TN, de Vries PJ, Frost MD, Fuchs Z, Gosnell ES, Gupta N, Jansen AC, Józwiak S, Kingswood JC, Knilans TK, McCormack FX, Pounders A, Roberds SL, Rodriguez-Buritica DF, Roth J, Sampson JR, Sparagana S, Thiele EA, Weiner HL, Wheless JW, Towbin AJ, Krueger DA. Updated International Tuberous Sclerosis Complex Diagnostic Criteria and Surveillance and Management Recommendations. Pediatr Neurol. 2021 10; 123:50-66. PMID: 34399110.
    Citations: 18     Fields:    Translation:Humans
  17. Patel AD, Mazurkiewicz-Beldzinska M, Chin RF, Gil-Nagel A, Gunning B, Halford JJ, Mitchell W, Scott Perry M, Thiele EA, Weinstock A, Dunayevich E, Checketts D, Devinsky O. Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial. Epilepsia. 2021 09; 62(9):2228-2239. PMID: 34287833.
    Citations: 2     Fields:    Translation:HumansCTClinical Trials
  18. Cervenka M, Pascual JM, Rho JM, Thiele E, Yellen G, Whittemore V, Hartman AL. Metabolism-based therapies for epilepsy: new directions for future cures. Ann Clin Transl Neurol. 2021 08; 8(8):1730-1737. PMID: 34247456; PMCID: PMC8351378.
    Citations: 2     Fields:    Translation:Humans
  19. Geenen KR, Doshi SP, Patel S, Sourbron J, Falk A, Morgan A, Vu U, Bruno PL, Thiele EA. Fenfluramine for seizures associated with Sunflower syndrome. Dev Med Child Neurol. 2021 12; 63(12):1427-1432. PMID: 34216017.
    Citations: 4     Fields:    Translation:Humans
  20. Patel S, Grinspoon R, Fleming B, Skirvin LA, Wade C, Wolper E, Bruno PL, Thiele EA. The long-term efficacy of cannabidiol in the treatment of refractory epilepsy. Epilepsia. 2021 07; 62(7):1594-1603. PMID: 34050682.
    Citations: 2     Fields:    Translation:Humans
  21. Nascimento FA, Thiele EA, Thibert RL. Teaching NeuroImages: Notched Delta and Angelman Syndrome. Neurology. 2021 May 24. PMID: 34031203.
    Citations:    Fields:    
  22. Darling TN, Thiele EA, Moss J. TSC1 and TSC2 Genotype in Tuberous Sclerosis Complex: Are Other Manifestations of this Multisystem Disease Affected by Genotype? Ann Am Thorac Soc. 2021 05; 18(5):775-777. PMID: 33929310.
    Citations: 1     Fields:    Translation:Humans
  23. Nascimento FA, Thiele EA. Teaching Video NeuroImage: Shedding Light on Sunflower Syndrome. Neurology. 2021 08 17; 97(7):e749. PMID: 33722995.
    Citations:    Fields:    Translation:Humans
  24. Thiele EA, Bebin EM, Bhathal H, Jansen FE, Kotulska K, Lawson JA, O'Callaghan FJ, Wong M, Sahebkar F, Checketts D, Knappertz V. Add-on Cannabidiol Treatment for Drug-Resistant Seizures in Tuberous Sclerosis Complex: A Placebo-Controlled Randomized Clinical Trial. JAMA Neurol. 2021 03 01; 78(3):285-292. PMID: 33346789.
    Citations: 21     Fields:    Translation:HumansCTClinical Trials
  25. Barnett JR, Fleming BM, Doshi SP, Freedman J, Ambrosio NR, Geenen KR, Bruno PL, Thiele EA. Understanding Sunflower syndrome: Results of an online questionnaire. Epilepsy Behav. 2021 04; 117:107856. PMID: 33639438.
    Citations:    Fields:    Translation:Humans
  26. Cheah PS, Prabhakar S, Yellen D, Beauchamp RL, Zhang X, Kasamatsu S, Bronson RT, Thiele EA, Kwiatkowski DJ, Stemmer-Rachamimov A, György B, Ling KH, Kaneki M, Tannous BA, Ramesh V, Maguire CA, Breakefield XO. Gene therapy for tuberous sclerosis complex type 2 in a mouse model by delivery of AAV9 encoding a condensed form of tuberin. Sci Adv. 2021 01; 7(2). PMID: 33523984; PMCID: PMC7793581.
    Citations: 6     Fields:    
  27. Durrant C, Thiele EA, Holroyd N, Doyle SR, Sallé G, Tracey A, Sankaranarayanan G, Lotkowska ME, Bennett HM, Huckvale T, Abdellah Z, Tchindebet O, Wossen M, Logora MSY, Coulibaly CO, Weiss A, Schulte-Hostedde AI, Foster JM, Cleveland CA, Yabsley MJ, Ruiz-Tiben E, Berriman M, Eberhard ML, Cotton JA. Population genomic evidence that human and animal infections in Africa come from the same populations of Dracunculus medinensis. PLoS Negl Trop Dis. 2020 11; 14(11):e0008623. PMID: 33253172.
    Citations: 3     Fields:    Translation:HumansAnimals
  28. Geenen KR, Patel S, Thiele EA. Sunflower syndrome: a poorly understood photosensitive epilepsy. Dev Med Child Neurol. 2021 03; 63(3):259-262. PMID: 33135153.
    Citations: 2     Fields:    Translation:Humans
  29. Sourbron J, Ayub N, Luo Y, Thiele EA. Ictal EEG in sunflower syndrome: Provoked or unprovoked seizures? Epilepsy Behav. 2020 12; 113:107470. PMID: 33070054.
    Citations:    Fields:    Translation:Humans
  30. Giannikou K, Zhu Z, Kim J, Winden KD, Tyburczy ME, Marron D, Parker JS, Hebert Z, Bongaarts A, Taing L, Long HW, Pisano WV, Alexandrescu S, Godlewski B, Nellist M, Kotulska K, Jozwiak S, Roszkowski M, Mandera M, Thiele EA, Lidov H, Getz G, Devinsky O, Lawrence MS, Ligon KL, Ellison DW, Sahin M, Aronica E, Meredith DM, Kwiatkowski DJ. Subependymal giant cell astrocytomas are characterized by mTORC1 hyperactivation, a very low somatic mutation rate, and a unique gene expression profile. Mod Pathol. 2021 02; 34(2):264-279. PMID: 33051600; PMCID: PMC9361192.
    Citations: 2     Fields:    Translation:HumansCells
  31. Devinsky O, Thiele EA, Wright S, Checketts D, Morrison G, Dunayevich E, Knappertz V. Cannabidiol efficacy independent of clobazam: Meta-analysis of four randomized controlled trials. Acta Neurol Scand. 2020 Dec; 142(6):531-540. PMID: 32592183.
    Citations: 9     Fields:    Translation:Humans
  32. Barnett JR, Fleming BM, Geenen KR, Sourbron J, Freedman JH, Bruno PL, Thiele EA. Characterizing Sunflower syndrome: a clinical series. Epileptic Disord. 2020 Jun 01; 22(3):273-280. PMID: 32554362.
    Citations: 1     Fields:    Translation:Humans
  33. Barnett JR, Grinspoon RA, Harisinghani M, Caruso PA, Thiele EA. The efficacy of cannabidiol on renal angiomyolipoma and subependymal giant cell tumor volume in tuberous sclerosis complex. J Clin Neurosci. 2020 Jul; 77:85-88. PMID: 32409220.
    Citations: 3     Fields:    Translation:Humans
  34. Geffrey AL, Geenen KR, Abati E, Greenstein SH, VanderVeen DK, Levy RL, Davidson SL, McGarrey MP, Thiele EA, Aronow ME. Juvenile cataract in association with tuberous sclerosis complex. Ophthalmic Genet. 2020 08; 41(4):345-349. PMID: 32340510.
    Citations:    Fields:    Translation:Humans
  35. Dona AC, DeLouize AM, Eick G, Thiele E, Salinas Rodríguez A, Manrique Espinoza BS, Robledo R, Villalpando S, Naidoo N, Chatterji S, Kowal P, Snodgrass JJ. Inflammation and central adiposity as mediators of depression and uncontrolled diabetes in the study on global AGEing and adult health (SAGE). Am J Hum Biol. 2020 11; 32(6):e23413. PMID: 32222050.
    Citations: 1     Fields:    Translation:Humans
  36. Herlopian A, Hess EJ, Barnett J, Geffrey AL, Pollack SF, Skirvin L, Bruno P, Sourbron J, Thiele EA. Cannabidiol in treatment of refractory epileptic spasms: An open-label study. Epilepsy Behav. 2020 05; 106:106988. PMID: 32169600.
    Citations: 9     Fields:    Translation:Humans
  37. Arzimanoglou A, Brandl U, Cross JH, Gil-Nagel A, Lagae L, Landmark CJ, Specchio N, Nabbout R, Thiele EA, Gubbay O. Epilepsy and cannabidiol: a guide to treatment. Epileptic Disord. 2020 02 01; 22(1):1-14. PMID: 32096470.
    Citations: 15     Fields:    Translation:Humans
  38. Hyde C, Pizzano M, McDonald NM, Nelson CA, Kasari C, Thiele EA, Jeste SS. A telehealth approach to improving clinical trial access for infants with tuberous sclerosis complex. J Neurodev Disord. 2020 01 22; 12(1):3. PMID: 31969108.
    Citations: 3     Fields:    Translation:Humans
  39. Martin P, Wagh V, Reis SA, Erdin S, Beauchamp RL, Shaikh G, Talkowski M, Thiele E, Sheridan SD, Haggarty SJ, Ramesh V. TSC patient-derived isogenic neural progenitor cells reveal altered early neurodevelopmental phenotypes and rapamycin-induced MNK-eIF4E signaling. Mol Autism. 2020; 11(1):2. PMID: 31921404; PMCID: PMC6945400.
    Citations: 8     Fields:    Translation:HumansCells
  40. Nabbout R, Thiele EA. The role of cannabinoids in epilepsy treatment: a critical review of efficacy results from clinical trials. Epileptic Disord. 2020 Jan 01; 22(S1):23-28. PMID: 31916540.
    Citations: 9     Fields:    Translation:Humans
  41. Savage TE, Sourbron J, Bruno PL, Skirvin LA, Wolper ES, Anagnos CJ, Thiele EA. Efficacy of cannabidiol in subjects with refractory epilepsy relative to concomitant use of clobazam. Epilepsy Res. 2020 02; 160:106263. PMID: 31923763.
    Citations: 7     Fields:    Translation:Humans
  42. Doyle SR, Sankaranarayanan G, Allan F, Berger D, Jimenez Castro PD, Collins JB, Crellen T, Duque-Correa MA, Ellis P, Jaleta TG, Laing R, Maitland K, McCarthy C, Moundai T, Softley B, Thiele E, Ouakou PT, Tushabe JV, Webster JP, Weiss AJ, Lok J, Devaney E, Kaplan RM, Cotton JA, Berriman M, Holroyd N. Evaluation of DNA Extraction Methods on Individual Helminth Egg and Larval Stages for Whole-Genome Sequencing. Front Genet. 2019; 10:826. PMID: 31616465; PMCID: PMC6764475.
    Citations: 9     
  43. Giannikou K, Lasseter KD, Grevelink JM, Tyburczy ME, Dies KA, Zhu Z, Hamieh L, Wollison BM, Thorner AR, Ruoss SJ, Thiele EA, Sahin M, Kwiatkowski DJ. Low-level mosaicism in tuberous sclerosis complex: prevalence, clinical features, and risk of disease transmission. Genet Med. 2019 11; 21(11):2639-2643. PMID: 31160751.
    Citations: 13     Fields:    Translation:HumansPHPublic Health
  44. Lamattina AM, Poli S, Kidambi P, Bagwe S, Courtwright A, Louis PH, Shrestha S, Stump B, Goldberg HJ, Thiele EA, Rosas I, Henske EP, El-Chemaly S. Serum endostatin levels are associated with diffusion capacity and with tuberous sclerosis- associated lymphangioleiomyomatosis. Orphanet J Rare Dis. 2019 03 29; 14(1):72. PMID: 30922357; PMCID: PMC6440133.
    Citations:    Fields:    Translation:Humans
  45. Laux LC, Bebin EM, Checketts D, Chez M, Flamini R, Marsh ED, Miller I, Nichol K, Park Y, Segal E, Seltzer L, Szaflarski JP, Thiele EA, Weinstock A. Long-term safety and efficacy of cannabidiol in children and adults with treatment resistant Lennox-Gastaut syndrome or Dravet syndrome: Expanded access program results. Epilepsy Res. 2019 08; 154:13-20. PMID: 31022635.
    Citations: 30     Fields:    Translation:HumansCTClinical Trials
  46. Nabbout R, Auvin S, Chiron C, Thiele E, Cross H, Scheffer IE, Schneider AL, Guerrini R, Williamson N. Perception of impact of Dravet syndrome on children and caregivers in multiple countries: looking beyond seizures. Dev Med Child Neurol. 2019 10; 61(10):1229-1236. PMID: 30828793.
    Citations: 6     Fields:    Translation:Humans
  47. Thiele E, Marsh E, Mazurkiewicz-Beldzinska M, Halford JJ, Gunning B, Devinsky O, Checketts D, Roberts C. Cannabidiol in patients with Lennox-Gastaut syndrome: Interim analysis of an open-label extension study. Epilepsia. 2019 03; 60(3):419-428. PMID: 30740695.
    Citations: 34     Fields:    Translation:Humans
  48. Thiele EA, Eberhard ML, Cotton JA, Durrant C, Berg J, Hamm K, Ruiz-Tiben E. Population genetic analysis of Chadian Guinea worms reveals that human and non-human hosts share common parasite populations. PLoS Negl Trop Dis. 2018 10; 12(10):e0006747. PMID: 30286084.
    Citations: 18     Fields:    Translation:HumansAnimalsCellsPHPublic Health
  49. Devinsky O, Verducci C, Thiele EA, Laux LC, Patel AD, Filloux F, Szaflarski JP, Wilfong A, Clark GD, Park YD, Seltzer LE, Bebin EM, Flamini R, Wechsler RT, Friedman D. Open-label use of highly purified CBD (Epidiolex®) in patients with CDKL5 deficiency disorder and Aicardi, Dup15q, and Doose syndromes. Epilepsy Behav. 2018 09; 86:131-137. PMID: 30006259.
    Citations: 37     Fields:    Translation:HumansCells
  50. Kossoff EH, Zupec-Kania BA, Auvin S, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Cross JH, Dahlin MG, Donner EJ, Guzel O, Jehle RS, Klepper J, Kang HC, Lambrechts DA, Liu YMC, Nathan JK, Nordli DR, Pfeifer HH, Rho JM, Scheffer IE, Sharma S, Stafstrom CE, Thiele EA, Turner Z, Vaccarezza MM, van der Louw EJTM, Veggiotti P, Wheless JW, Wirrell EC. Optimal clinical management of children receiving dietary therapies for epilepsy: Updated recommendations of the International Ketogenic Diet Study Group. Epilepsia Open. 2018 Jun; 3(2):175-192. PMID: 29881797.
    Citations: 109     Fields:    
  51. Larque AB, Kradin RL, Chebib I, Nielsen GP, Selig MK, Thiele EA, Stemmer-Rachamimov A, Bredella MA, Kurzawa P, Deshpande V. Fibroma-like PEComa: A Tuberous Sclerosis Complex-related Lesion. Am J Surg Pathol. 2018 04; 42(4):500-505. PMID: 29324470.
    Citations: 4     Fields:    Translation:Humans
  52. Prince-Guerra JL, Cama VA, Wilson N, Thiele EA, Likwela J, Ndakala N, Muzinga Wa Muzinga J, Ayebazibwe N, Ndjakani YD, Pitchouna NA, Mumba D, Tshefu AK, Ogawa G, Cantey PT. Comparison of PCR Methods for Onchocerca volvulus Detection in Skin Snip Biopsies from the Tshopo Province, Democratic Republic of the Congo. Am J Trop Med Hyg. 2018 05; 98(5):1427-1434. PMID: 29611501; PMCID: PMC5953380.
    Citations: 10     Fields:    Translation:HumansAnimals
  53. Devinsky O, Patel AD, Thiele EA, Wong MH, Appleton R, Harden CL, Greenwood S, Morrison G, Sommerville K. Randomized, dose-ranging safety trial of cannabidiol in Dravet syndrome. Neurology. 2018 04 03; 90(14):e1204-e1211. PMID: 29540584.
    Citations: 104     Fields:    Translation:Humans
  54. Thiele EA, Marsh ED, French JA, Mazurkiewicz-Beldzinska M, Benbadis SR, Joshi C, Lyons PD, Taylor A, Roberts C, Sommerville K. Cannabidiol in patients with seizures associated with Lennox-Gastaut syndrome (GWPCARE4): a randomised, double-blind, placebo-controlled phase 3 trial. Lancet. 2018 03 17; 391(10125):1085-1096. PMID: 29395273.
    Citations: 195     Fields:    Translation:HumansCTClinical Trials
  55. Boronat S, Thiele EA, Caruso P. Cerebellar lesions are associated with TSC2 mutations in tuberous sclerosis complex: a retrospective record review study. Dev Med Child Neurol. 2017 10; 59(10):1071-1076. PMID: 28786492.
    Citations: 7     Fields:    Translation:Humans
  56. Feeser KR, Cama V, Priest JW, Thiele EA, Wiegand RE, Lakwo T, Feleke SM, Cantey PT. Characterizing Reactivity to Onchocerca volvulus Antigens in Multiplex Bead Assays. Am J Trop Med Hyg. 2017 Sep; 97(3):666-672. PMID: 28722605; PMCID: PMC5590562.
    Citations: 5     Fields:    Translation:HumansAnimals
  57. Devinsky O, Cross JH, Laux L, Marsh E, Miller I, Nabbout R, Scheffer IE, Thiele EA, Wright S. Trial of Cannabidiol for Drug-Resistant Seizures in the Dravet Syndrome. N Engl J Med. 2017 05 25; 376(21):2011-2020. PMID: 28538134.
    Citations: 342     Fields:    Translation:Humans
  58. Boronat S, Barber I, Thiele EA. Sclerotic bone lesions in tuberous sclerosis complex: A genotype-phenotype study. Am J Med Genet A. 2017 Jul; 173(7):1891-1895. PMID: 28488386.
    Citations: 6     Fields:    
  59. Arokiasamy P, Kowal P, Capistrant BD, Gildner TE, Thiele E, Biritwum RB, Yawson AE, Mensah G, Maximova T, Wu F, Guo Y, Zheng Y, Kalula SZ, Salinas Rodríguez A, Manrique Espinoza B, Liebert MA, Eick G, Sterner KN, Barrett TM, Duedu K, Gonzales E, Ng N, Negin J, Jiang Y, Byles J, Madurai SL, Minicuci N, Snodgrass JJ, Naidoo N, Chatterji S. Chronic Noncommunicable Diseases in 6 Low- and Middle-Income Countries: Findings From Wave 1 of the World Health Organization's Study on Global Ageing and Adult Health (SAGE). Am J Epidemiol. 2017 03 15; 185(6):414-428. PMID: 28399566; PMCID: PMC6075549.
    Citations: 53     Fields:    Translation:Humans
  60. Nabbout R, Andrade DM, Bahi-Buisson N, Cross H, Desquerre I, Dulac O, Granata T, Hirsch E, Navarro V, Ouss L, Pearl PL, Schmidt D, Thiele E, Camfield PR, Camfield CS. Outcome of childhood-onset epilepsy from adolescence to adulthood: Transition issues. Epilepsy Behav. 2017 04; 69:161-169. PMID: 28256379.
    Citations: 10     Fields:    Translation:Humans
  61. 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: 10     Fields:    Translation:HumansPHPublic Health
  62. Eick GN, Kowal P, Barrett T, Thiele EA, Snodgrass JJ. Enzyme-Linked Immunoassay-Based Quantitative Measurement of Apolipoprotein B (ApoB) in Dried Blood Spots, a Biomarker of Cardiovascular Disease Risk. Biodemography Soc Biol. 2017; 63(2):116-130. PMID: 28521623.
    Citations: 2     Fields:    Translation:Humans
  63. Charlton K, Ware LJ, Menyanu E, Biritwum RB, Naidoo N, Pieterse C, Madurai SL, Baumgartner J, Asare GA, Thiele E, Schutte AE, Kowal P. Leveraging ongoing research to evaluate the health impacts of South Africa's salt reduction strategy: a prospective nested cohort within the WHO-SAGE multicountry, longitudinal study. BMJ Open. 2016 11 30; 6(11):e013316. PMID: 27903563; PMCID: PMC5168565.
    Citations: 23     Fields:    Translation:Humans
  64. Hess EJ, Moody KA, Geffrey AL, Pollack SF, Skirvin LA, Bruno PL, Paolini JL, Thiele EA. Cannabidiol as a new treatment for drug-resistant epilepsy in tuberous sclerosis complex. Epilepsia. 2016 Oct; 57(10):1617-1624. PMID: 27696387.
    Citations: 55     Fields:    Translation:Humans
  65. Sheth RA, Feldman AS, Paul E, Thiele EA, Walker TG. Sporadic versus Tuberous Sclerosis Complex-Associated Angiomyolipomas: Predictors for Long-Term Outcomes following Transcatheter Embolization. J Vasc Interv Radiol. 2016 Oct; 27(10):1542-9. PMID: 27522275.
    Citations: 7     Fields:    Translation:Humans
  66. Hsieh DT, Whiteway SL, Rohena LO, Thiele EA. Tuberous sclerosis complex: Five new things. Neurol Clin Pract. 2016 Aug; 6(4):339-347. PMID: 29443126; PMCID: PMC5727703.
    Citations: 5     
  67. Henske EP, Józwiak S, Kingswood JC, Sampson JR, Thiele EA. Tuberous sclerosis complex. Nat Rev Dis Primers. 2016 05 26; 2:16035. PMID: 27226234.
    Citations: 162     Fields:    Translation:Humans
  68. Biritwum RB, Minicuci N, Yawson AE, Theou O, Mensah GP, Naidoo N, Wu F, Guo Y, Zheng Y, Jiang Y, Maximova T, Kalula S, Arokiasamy P, Salinas-Rodríguez A, Manrique-Espinoza B, Snodgrass JJ, Sterner KN, Eick G, Liebert MA, Schrock J, Afshar S, Thiele E, Vollmer S, Harttgen K, Strulik H, Byles JE, Rockwood K, Mitnitski A, Chatterji S, Kowal P. Prevalence of and factors associated with frailty and disability in older adults from China, Ghana, India, Mexico, Russia and South Africa. Maturitas. 2016 Sep; 91:8-18. PMID: 27451316.
    Citations: 42     Fields:    Translation:Humans
  69. Sheth RA, Feldman AS, Paul E, Thiele EA, Walker TG. Angiographic and volumetric effects of mammalian target of rapamycin inhibitors on angiomyolipomas in tuberous sclerosis. World J Radiol. 2016 Mar 28; 8(3):308-15. PMID: 27027863; PMCID: PMC4807340.
    Citations: 8     
  70. Boronat S, Barber I, Pargaonkar V, Chang J, Thiele EA. Sclerotic bone lesions at abdominal magnetic resonance imaging in children with tuberous sclerosis complex. Pediatr Radiol. 2016 May; 46(5):689-94. PMID: 26965910.
    Citations: 2     Fields:    Translation:Humans
  71. Thiele EA, Cama VA, Lakwo T, Mekasha S, Abanyie F, Sleshi M, Kebede A, Cantey PT. Detection of Onchocerca volvulus in Skin Snips by Microscopy and Real-Time Polymerase Chain Reaction: Implications for Monitoring and Evaluation Activities. Am J Trop Med Hyg. 2016 Apr; 94(4):906-11. PMID: 26880774; PMCID: PMC4824238.
    Citations: 29     Fields:    Translation:HumansAnimals
  72. Devinsky O, Marsh E, Friedman D, Thiele E, Laux L, Sullivan J, Miller I, Flamini R, Wilfong A, Filloux F, Wong M, Tilton N, Bruno P, Bluvstein J, Hedlund J, Kamens R, Maclean J, Nangia S, Singhal NS, Wilson CA, Patel A, Cilio MR. Cannabidiol in patients with treatment-resistant epilepsy: an open-label interventional trial. Lancet Neurol. 2016 Mar; 15(3):270-8. PMID: 26724101.
    Citations: 252     Fields:    Translation:HumansCTClinical Trials
  73. Tyburczy ME, Dies KA, Glass J, Camposano S, Chekaluk Y, Thorner AR, Lin L, Krueger D, Franz DN, Thiele EA, Sahin M, Kwiatkowski DJ. Mosaic and Intronic Mutations in TSC1/TSC2 Explain the Majority of TSC Patients with No Mutation Identified by Conventional Testing. PLoS Genet. 2015 Nov; 11(11):e1005637. PMID: 26540169.
    Citations: 80     Fields:    Translation:Humans
  74. Schoeler NE, Leu C, White J, Plagnol V, Ellard S, Matarin M, Yellen G, Thiele EA, Mackay M, McMahon JM, Scheffer IE, Sander JW, Cross JH, Sisodiya SM. Variants in KCNJ11 and BAD do not predict response to ketogenic dietary therapies for epilepsy. Epilepsy Res. 2015 Dec; 118:22-8. PMID: 26590798; PMCID: PMC4819482.
    Citations: 4     Fields:    Translation:Humans
  75. Auladell M, Boronat S, Barber I, Thiele EA. Thyroid nodules on chest CT of patients with tuberous sclerosis complex. Am J Med Genet A. 2015 Dec; 167A(12):2992-7. PMID: 26332136.
    Citations: 2     Fields:    Translation:Humans
  76. Li P, Boronat S, Geffrey AL, Barber I, Grottkau BE, Thiele EA. Rib and vertebral bone fibrous dysplasia in a child with tuberous sclerosis complex. Am J Med Genet A. 2015 Nov; 167A(11):2755-7. PMID: 26177838.
    Citations: 1     Fields:    Translation:Humans
  77. Geffrey AL, Pollack SF, Bruno PL, Thiele EA. Drug-drug interaction between clobazam and cannabidiol in children with refractory epilepsy. Epilepsia. 2015 Aug; 56(8):1246-51. PMID: 26114620.
    Citations: 125     Fields:    Translation:Humans
  78. Gleichsner AM, Thiele EA, Minchella DJ. It's All about Those Bases: The Need for Incorporating Parasite Genetic Heterogeneity into the Development of Schistosome Vaccines. PLoS Negl Trop Dis. 2015 Jun; 9(6):e0003805. PMID: 26086424.
    Citations: 1     Fields:    
  79. Eberhard ML, Thiele EA, Yembo GE, Yibi MS, Cama VA, Ruiz-Tiben E. Thirty-Seven Human Cases of Sparganosis from Ethiopia and South Sudan Caused by Spirometra Spp. Am J Trop Med Hyg. 2015 Aug; 93(2):350-355. PMID: 26055739; PMCID: PMC4530760.
    Citations: 16     Fields:    Translation:HumansAnimalsPHPublic Health
  80. Martin DL, Lowe KR, McNeill T, Thiele EA, Roellig DM, Zajdowicz J, Hunter SA, Brubaker SA. Potential sexual transmission of Trypanosoma cruzi in mice. Acta Trop. 2015 Sep; 149:15-8. PMID: 25982870.
    Citations: 4     Fields:    Translation:Animals
  81. Pollack SF, Geffrey AL, Thiele EA, Shah U. Primary intestinal lymphangiectasia treated with rapamycin in a child with tuberous sclerosis complex (TSC). Am J Med Genet A. 2015 Sep; 167A(9):2209-12. PMID: 25943403.
    Citations: 4     Fields:    Translation:Humans
  82. Lin TY, Ebb DH, Boepple PA, Thiele EA, Rincon SP, Mordes DA. Case records of the Massachusetts General Hospital. Case 12-2015. A newborn boy with respiratory distress, lethargy, and hypernatremia. N Engl J Med. 2015 Apr 16; 372(16):1550-62. PMID: 25875261.
    Citations:    Fields:    Translation:Humans
  83. Geffrey AL, Belt OD, Paolini JL, Thiele EA. Lacosamide use in the treatment of refractory epilepsy in tuberous sclerosis complex. Epilepsy Res. 2015 May; 112:72-5. PMID: 25847341.
    Citations: 6     Fields:    Translation:Humans
  84. Wu F, Guo Y, Chatterji S, Zheng Y, Naidoo N, Jiang Y, Biritwum R, Yawson A, Minicuci N, Salinas-Rodriguez A, Manrique-Espinoza B, Maximova T, Peltzer K, Phaswanamafuya N, Snodgrass JJ, Thiele E, Ng N, Kowal P. Common risk factors for chronic non-communicable diseases among older adults in China, Ghana, Mexico, India, Russia and South Africa: the study on global AGEing and adult health (SAGE) wave 1. BMC Public Health. 2015 Feb 06; 15:88. PMID: 25885218; PMCID: PMC4335695.
    Citations: 62     Fields:    Translation:Humans
  85. 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; PMCID: PMC5534346.
    Citations: 25     Fields:    Translation:Humans
  86. Thiele EA, Granata T, Matricardi S, Chugani HT. Transition into adulthood: tuberous sclerosis complex, Sturge-Weber syndrome, and Rasmussen encephalitis. Epilepsia. 2014 Aug; 55 Suppl 3:29-33. PMID: 25209083.
    Citations: 8     Fields:    Translation:Humans
  87. Yang P, Cornejo KM, Sadow PM, Cheng L, Wang M, Xiao Y, Jiang Z, Oliva E, Jozwiak S, Nussbaum RL, Feldman AS, Paul E, Thiele EA, Yu JJ, Henske EP, Kwiatkowski DJ, Young RH, Wu CL. Renal cell carcinoma in tuberous sclerosis complex. Am J Surg Pathol. 2014 Jul; 38(7):895-909. PMID: 24832166.
    Citations: 66     Fields:    Translation:Humans
  88. Boronat S, Caruso P, Thiele EA. Absence of subependymal nodules in patients with tubers suggests possible neuroectodermal mosaicism in tuberous sclerosis complex. Dev Med Child Neurol. 2014 Dec; 56(12):1207-1211. PMID: 24954233.
    Citations: 6     Fields:    Translation:Humans
  89. Devinsky O, Cilio MR, Cross H, Fernandez-Ruiz J, French J, Hill C, Katz R, Di Marzo V, Jutras-Aswad D, Notcutt WG, Martinez-Orgado J, Robson PJ, Rohrback BG, Thiele E, Whalley B, Friedman D. Cannabidiol: pharmacology and potential therapeutic role in epilepsy and other neuropsychiatric disorders. Epilepsia. 2014 Jun; 55(6):791-802. PMID: 24854329.
    Citations: 237     Fields:    Translation:HumansAnimals
  90. Cilio MR, Thiele EA, Devinsky O. The case for assessing cannabidiol in epilepsy. Epilepsia. 2014 Jun; 55(6):787-90. PMID: 24854434.
    Citations: 23     Fields:    Translation:Humans
  91. Geffrey AL, Shinnick JE, Staley BA, Boronat S, Thiele EA. Lymphedema in tuberous sclerosis complex. Am J Med Genet A. 2014 Jun; 164A(6):1438-42. PMID: 24668795.
    Citations: 8     Fields:    Translation:Humans
  92. Boronat S, Caruso P, Auladell M, Van Eeghen A, Thiele EA. Arachnoid cysts in tuberous sclerosis complex. Brain Dev. 2014 Oct; 36(9):801-6. PMID: 24325802.
    Citations: 2     Fields:    Translation:Humans
  93. Eberhard ML, Ruiz-Tiben E, Hopkins DR, Farrell C, Toe F, Weiss A, Withers PC, Jenks MH, Thiele EA, Cotton JA, Hance Z, Holroyd N, Cama VA, Tahir MA, Mounda T. The peculiar epidemiology of dracunculiasis in Chad. Am J Trop Med Hyg. 2014 Jan; 90(1):61-70. PMID: 24277785; PMCID: PMC3886430.
    Citations: 51     Fields:    Translation:HumansAnimals
  94. Boronat S, Shaaya EA, Auladell M, Thiele EA, Caruso P. Intracranial arteriopathy in tuberous sclerosis complex. J Child Neurol. 2014 Jul; 29(7):912-9. PMID: 24056157.
    Citations: 4     Fields:    Translation:Humans
  95. Boronat S, Shaaya EA, Doherty CM, Caruso P, Thiele EA. Tuberous sclerosis complex without tubers and subependymal nodules: a phenotype-genotype study. Clin Genet. 2014 Aug; 86(2):149-54. PMID: 23909698.
    Citations: 10     Fields:    Translation:Humans
  96. Thiele EA, Corrêa-Oliveira G, Gazzinelli A, Minchella DJ. Elucidating the temporal and spatial dynamics of Biomphalaria glabrata genetic diversity in three Brazilian villages. Trop Med Int Health. 2013 Oct; 18(10):1164-73. PMID: 23911082.
    Citations: 3     Fields:    Translation:HumansAnimalsCells
  97. Boronat S, Van Eeghen AM, Shinnick JE, Newberry P, Thiele EA. Stressor-related disorders in tuberous sclerosis. Ann Clin Psychiatry. 2013 Nov; 25(4):243-9. PMID: 23926580.
    Citations: 1     Fields:    Translation:Humans
  98. van Eeghen AM, Ortiz-Terán L, Johnson J, Pulsifer MB, Thiele EA, Caruso P. Erratum to: The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines. Neuroradiology. 2013 Aug; 55(8):1015. PMID: 23775001.
    Citations:    
  99. Hsieh DT, Jennesson MM, Thiele EA. Epileptic spasms in tuberous sclerosis complex. Epilepsy Res. 2013 Sep; 106(1-2):200-10. PMID: 23796861.
    Citations: 5     Fields:    Translation:Humans
  100. 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.
    Citations: 6     Fields:    Translation:Humans
  101. Arkilo D, Wang S, Thiele EA. Time interval required for return to baseline of the background rhythm on electroencephalogram after recorded electrographic seizures. Epilepsy Res. 2013 Sep; 106(1-2):288-91. PMID: 23684125.
    Citations: 5     Fields:    Translation:Humans
  102. Thiele EA. Implications of dietary therapy into the 21st century: conclusion to special issue. J Child Neurol. 2013 Aug; 28(8):1054-5. PMID: 23666037.
    Citations: 2     Fields:    Translation:Humans
  103. van Eeghen AM, Terán LO, Johnson J, Pulsifer MB, Thiele EA, Caruso P. The neuroanatomical phenotype of tuberous sclerosis complex: focus on radial migration lines. Neuroradiology. 2013 Aug; 55(8):1007-1014. PMID: 23644537.
    Citations: 13     Fields:    Translation:HumansCells
  104. Hsieh DT, Thiele EA. Efficacy and safety of rufinamide in pediatric epilepsy. Ther Adv Neurol Disord. 2013 May; 6(3):189-98. PMID: 23634191.
    Citations: 3     
  105. Boronat S, Newberry P, Mehan W, Thiele EA, Duhaime AC. Klüver-Bucy syndrome after unilateral frontotemporal resection in a child with tuberous sclerosis. Childs Nerv Syst. 2013 Aug; 29(8):1391-4. PMID: 23636147.
    Citations:    Fields:    Translation:Humans
  106. 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.
    Citations: 61     Fields:    Translation:HumansAnimals
  107. Malinowska IA, Lee N, Kumar V, Thiele EA, Franz DN, Ashwal S, Sagalowsky A, Dimario FJ, Cutler D, Krueger D, Camposano S, Paolini J, Dabora SL. Similar trends in serum VEGF-D levels and kidney angiomyolipoma responses with longer duration sirolimus treatment in adults with tuberous sclerosis. PLoS One. 2013; 8(2):e56199. PMID: 23437092.
    Citations: 7     Fields:    Translation:HumansCTClinical Trials
  108. Hsieh DT, Jennesson MM, Thiele EA, Caruso PA, Masiakos PT, Duhaime AC. Brain and spinal manifestations of Miller-Dieker syndrome. Neurol Clin Pract. 2013 Feb; 3(1):82-83. PMID: 23634385.
    Citations: 3     
  109. Thiele EA, Minchella DJ. Molecular assessment of trematode co-infection and intraspecific competition in molluscan intermediate hosts. Mol Biochem Parasitol. 2013 Jan; 187(1):52-9. PMID: 23261358.
    Citations: 3     Fields:    Translation:Animals
  110. 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.
    Citations: 56     Fields:    Translation:Humans
  111. Jennesson M, van Eeghen AM, Caruso PA, Paolini JL, Thiele EA. Clobazam therapy of refractory epilepsy in tuberous sclerosis complex. Epilepsy Res. 2013 May; 104(3):269-74. PMID: 23219029.
    Citations: 8     Fields:    Translation:Humans
  112. Hsieh DT, Pfeifer HH, Thiele EA. Dietary management of epilepsy. Am Fam Physician. 2012 Dec 01; 86(11):1000-1. PMID: 23198664.
    Citations:    Fields:    Translation:Humans
  113. Franz DN, Belousova E, Sparagana S, Bebin EM, Frost M, Kuperman R, Witt O, Kohrman MH, Flamini JR, Wu JY, Curatolo P, de Vries PJ, Whittemore VH, Thiele EA, Ford JP, Shah G, Cauwel H, Lebwohl D, Sahmoud T, Jozwiak S. Efficacy and safety of everolimus for subependymal giant cell astrocytomas associated with tuberous sclerosis complex (EXIST-1): a multicentre, randomised, placebo-controlled phase 3 trial. Lancet. 2013 Jan 12; 381(9861):125-32. PMID: 23158522.
    Citations: 271     Fields:    Translation:HumansCTClinical Trials
  114. Gallagher A, Tanaka N, Suzuki N, Liu H, Thiele EA, Stufflebeam SM. Diffuse cerebral language representation in tuberous sclerosis complex. Epilepsy Res. 2013 Mar; 104(1-2):125-33. PMID: 23092910.
    Citations: 3     Fields:    Translation:Humans
  115. Hoogeveen-Westerveld M, Ekong R, Povey S, Mayer K, Lannoy N, Elmslie F, Bebin M, Dies K, Thompson C, Sparagana SP, Davies P, van Eeghen AM, Thiele EA, van den Ouweland A, Halley D, Nellist M. Functional assessment of TSC2 variants identified in individuals with tuberous sclerosis complex. Hum Mutat. 2013 Jan; 34(1):167-75. PMID: 22903760.
    Citations: 20     Fields:    Translation:HumansCells
  116. Hsieh DT, Thiele EA. Vigabatrin-related magnetic resonance imaging abnormalities in an infant with tuberous sclerosis complex and infantile spasms. J Pediatr. 2013 Jan; 162(1):215. PMID: 22979977.
    Citations: 3     Fields:    Translation:Humans
  117. Muzykewicz DA, Black ME, Muse V, Numis AL, Rajagopal J, Thiele EA, Sharma A. Multifocal micronodular pneumocyte hyperplasia: computed tomographic appearance and follow-up in tuberous sclerosis complex. J Comput Assist Tomogr. 2012 Sep-Oct; 36(5):518-22. PMID: 22992599.
    Citations: 14     Fields:    Translation:HumansCells
  118. Gallagher A, Tanaka N, Suzuki N, Liu H, Thiele EA, Stufflebeam SM. Decreased language laterality in tuberous sclerosis complex: a relationship between language dominance and tuber location as well as history of epilepsy. Epilepsy Behav. 2012 Sep; 25(1):36-41. PMID: 22980079.
    Citations: 5     Fields:    Translation:Humans
  119. van Eeghen AM, Nellist M, van Eeghen EE, Thiele EA. Central TSC2 missense mutations are associated with a reduced risk of infantile spasms. Epilepsy Res. 2013 Jan; 103(1):83-7. PMID: 22867869.
    Citations: 8     Fields:    Translation:Humans
  120. 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.
    Citations: 15     Fields:    Translation:HumansPHPublic Health
  121. 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.
    Citations: 22     Fields:    Translation:Humans
  122. Langer JE, Lopes MB, Fountain NB, Pranzatelli MR, Thiele EA, Rust RS, Goodkin HP. An unusual presentation of anti-Hu-associated paraneoplastic limbic encephalitis. Dev Med Child Neurol. 2012 Sep; 54(9):863-6. PMID: 22320677.
    Citations: 7     Fields:    Translation:Humans
  123. Black ME, Hedgire SS, Camposano S, Paul E, Harisinghani M, Thiele EA. Hepatic manifestations of tuberous sclerosis complex: a genotypic and phenotypic analysis. Clin Genet. 2012 Dec; 82(6):552-7. PMID: 22251200.
    Citations: 8     Fields:    Translation:Humans
  124. Hoogeveen-Westerveld M, Ekong R, Povey S, Karbassi I, Batish SD, den Dunnen JT, van Eeghen A, Thiele E, Mayer K, Dies K, Wen L, Thompson C, Sparagana SP, Davies P, Aalfs C, van den Ouweland A, Halley D, Nellist M. Functional assessment of TSC1 missense variants identified in individuals with tuberous sclerosis complex. Hum Mutat. 2012 Mar; 33(3):476-9. PMID: 22161988.
    Citations: 13     Fields:    Translation:HumansAnimals
  125. van Eeghen AM, Black ME, Pulsifer MB, Kwiatkowski DJ, Thiele EA. Genotype and cognitive phenotype of patients with tuberous sclerosis complex. Eur J Hum Genet. 2012 May; 20(5):510-5. PMID: 22189265.
    Citations: 35     Fields:    Translation:Humans
  126. Larson AM, Hedgire SS, Deshpande V, Stemmer-Rachamimov AO, Harisinghani MG, Ferrone CR, Shah U, Thiele EA. Pancreatic neuroendocrine tumors in patients with tuberous sclerosis complex. Clin Genet. 2012 Dec; 82(6):558-63. PMID: 22035404.
    Citations: 28     Fields:    Translation:Humans
  127. Larson AM, Pfeifer HH, Thiele EA. Low glycemic index treatment for epilepsy in tuberous sclerosis complex. Epilepsy Res. 2012 Mar; 99(1-2):180-2. PMID: 22119636.
    Citations: 7     Fields:    Translation:HumansPHPublic Health
  128. van Eeghen AM, Chu-Shore CJ, Pulsifer MB, Camposano SE, Thiele EA. Cognitive and adaptive development of patients with tuberous sclerosis complex: a retrospective, longitudinal investigation. Epilepsy Behav. 2012 Jan; 23(1):10-5. PMID: 22099526.
    Citations: 13     Fields:    Translation:Humans
  129. Dabora SL, Franz DN, Ashwal S, Sagalowsky A, DiMario FJ, Miles D, Cutler D, Krueger D, Uppot RN, Rabenou R, Camposano S, Paolini J, Fennessy F, Lee N, Woodrum C, Manola J, Garber J, Thiele EA. Multicenter phase 2 trial of sirolimus for tuberous sclerosis: kidney angiomyolipomas and other tumors regress and VEGF- D levels decrease. PLoS One. 2011; 6(9):e23379. PMID: 21915260.
    Citations: 79     Fields:    Translation:HumansCTClinical Trials
  130. Paul E, Thiele EA, Shailam R, Rosales AM, Sadow PM. Case records of the Massachusetts General Hospital. Case 26-2011. A 7-year-old boy with a complex cyst in the kidney. N Engl J Med. 2011 Aug 25; 365(8):743-51. PMID: 21864169.
    Citations: 1     Fields:    Translation:Humans
  131. Numis AL, Yellen MB, Chu-Shore CJ, Pfeifer HH, Thiele EA. The relationship of ketosis and growth to the efficacy of the ketogenic diet in infantile spasms. Epilepsy Res. 2011 Sep; 96(1-2):172-5. PMID: 21700429.
    Citations: 16     Fields:    Translation:Humans
  132. Gallagher A, Kovach A, Stemmer-Rachamimov A, Rosenberg AE, Eskandar E, Thiele EA. Metaplastic bone in a cortical tuber of a young patient with tuberous sclerosis complex. Neurology. 2011 May 03; 76(18):1602-4. PMID: 21536642; PMCID: PMC3100129.
    Citations:    Fields:    Translation:Humans
  133. Numis AL, Major P, Montenegro MA, Muzykewicz DA, Pulsifer MB, Thiele EA. Identification of risk factors for autism spectrum disorders in tuberous sclerosis complex. Neurology. 2011 Mar 15; 76(11):981-7. PMID: 21403110; PMCID: PMC3271577.
    Citations: 83     Fields:    Translation:Humans
  134. Jones-Nelson O, Thiele EA, Minchella DJ. Transmission dynamics of two strains of Schistosoma mansoni utilizing novel intermediate and definitive hosts. Parasitol Res. 2011 Sep; 109(3):675-87. PMID: 21369763.
    Citations: 5     Fields:    Translation:Animals
  135. Staley BA, Vail EA, Thiele EA. Tuberous sclerosis complex: diagnostic challenges, presenting symptoms, and commonly missed signs. Pediatrics. 2011 Jan; 127(1):e117-25. PMID: 21173003; PMCID: PMC3010088.
    Citations: 39     Fields:    Translation:Humans
  136. 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.
    Citations: 14     Fields:    Translation:Humans
  137. Chu-Shore CJ, Thiele EA. New drugs for pediatric epilepsy. Semin Pediatr Neurol. 2010 Dec; 17(4):214-23. PMID: 21183127.
    Citations: 11     Fields:    Translation:Humans
  138. Gallagher A, Madan N, Stemmer-Rachamimov A, Thiele EA. Progressive calcified tuber in a young male with tuberous sclerosis complex. Dev Med Child Neurol. 2010 Nov; 52(11):1062-5. PMID: 21175459.
    Citations: 8     Fields:    Translation:Humans
  139. Paul E, Conant KD, Dunne IE, Pfeifer HH, Lyczkowski DA, Linshaw MA, Thiele EA. Urolithiasis on the ketogenic diet with concurrent topiramate or zonisamide therapy. Epilepsy Res. 2010 Jun; 90(1-2):151-6. PMID: 20466520.
    Citations: 15     Fields:    Translation:Humans
  140. Gallagher A, Grant EP, Madan N, Jarrett DY, Lyczkowski DA, Thiele EA. MRI findings reveal three different types of tubers in patients with tuberous sclerosis complex. J Neurol. 2010 Aug; 257(8):1373-81. PMID: 20352250.
    Citations: 25     Fields:    Translation:Humans
  141. Qin W, Kozlowski P, Taillon BE, Bouffard P, Holmes AJ, Janne P, Camposano S, Thiele E, Franz D, Kwiatkowski DJ. Ultra deep sequencing detects a low rate of mosaic mutations in tuberous sclerosis complex. Hum Genet. 2010 Mar; 127(5):573-82. PMID: 20165957.
    Citations: 32     Fields:    Translation:Humans
  142. Thiele EA. Managing and understanding epilepsy in tuberous sclerosis complex. Epilepsia. 2010 Feb; 51 Suppl 1:90-1. PMID: 20331728.
    Citations: 8     Fields:    
  143. Chu-Shore CJ, Major P, Camposano S, Muzykewicz D, Thiele EA. The natural history of epilepsy in tuberous sclerosis complex. Epilepsia. 2010 Jul; 51(7):1236-41. PMID: 20041940.
    Citations: 191     Fields:    Translation:Humans
  144. Tanaka N, Thiele EA, Madsen JR, Bourgeois BF, Stufflebeam SM. Magnetoencephalographic analysis in patients with vagus nerve stimulator. Pediatr Neurol. 2009 Nov; 41(5):383-7. PMID: 19818944.
    Citations: 7     Fields:    Translation:Humans
  145. Gallagher A, Chu-Shore CJ, Montenegro MA, Major P, Costello DJ, Lyczkowski DA, Muzykewicz D, Doherty C, Thiele EA. Associations between electroencephalographic and magnetic resonance imaging findings in tuberous sclerosis complex. Epilepsy Res. 2009 Dec; 87(2-3):197-202. PMID: 19783123.
    Citations: 12     Fields:    Translation:Humans
  146. Chu-Shore CJ, Frosch MP, Grant PE, Thiele EA. Progressive multifocal cystlike cortical tubers in tuberous sclerosis complex: Clinical and neuropathologic findings. Epilepsia. 2009 Dec; 50(12):2648-51. PMID: 19624715.
    Citations: 12     Fields:    Translation:Humans
  147. Bollo RJ, Berliner JL, Fischer I, Miles DK, Thiele EA, Zagzag D, Weiner HL. Extraventricular subependymal giant cell tumor in a child with tuberous sclerosis complex. J Neurosurg Pediatr. 2009 Jul; 4(1):85-90. PMID: 19569916.
    Citations: 6     Fields:    Translation:Humans
  148. Chu-Shore CJ, Thiele EA. Tumor growth in patients with tuberous sclerosis complex on the ketogenic diet. Brain Dev. 2010 Apr; 32(4):318-22. PMID: 19443154.
    Citations: 16     Fields:    Translation:Humans
  149. 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.
    Citations: 19     Fields:    Translation:Humans
  150. 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.
    Citations: 37     Fields:    Translation:Humans
  151. Muzykewicz DA, Sharma A, Muse V, Numis AL, Rajagopal J, Thiele EA. TSC1 and TSC2 mutations in patients with lymphangioleiomyomatosis and tuberous sclerosis complex. J Med Genet. 2009 Jul; 46(7):465-8. PMID: 19419980.
    Citations: 26     Fields:    Translation:Humans
  152. Chu-Shore CJ, Major P, Montenegro M, Thiele E. Cyst-like tubers are associated with TSC2 and epilepsy in tuberous sclerosis complex. Neurology. 2009 Mar 31; 72(13):1165-9. PMID: 19332694.
    Citations: 32     Fields:    Translation:Humans
  153. Vail EA, Rakowski SK, Numis AL, Thiele EA. Role of mutational analysis in diagnosis of tuberous sclerosis complex. Clin Genet. 2009 Mar; 75(3):282-5. PMID: 19250385.
    Citations: 4     Fields:    Translation:Humans
  154. Muzykewicz DA, Lyczkowski DA, Memon N, Conant KD, Pfeifer HH, Thiele EA. Efficacy, safety, and tolerability of the low glycemic index treatment in pediatric epilepsy. Epilepsia. 2009 May; 50(5):1118-26. PMID: 19220406.
    Citations: 51     Fields:    Translation:HumansPHPublic HealthCTClinical Trials
  155. Major P, Rakowski S, Simon MV, Cheng ML, Eskandar E, Baron J, Leeman BA, Frosch MP, Thiele EA. Are cortical tubers epileptogenic? Evidence from electrocorticography. Epilepsia. 2009 Jan; 50(1):147-54. PMID: 19125835.
    Citations: 64     Fields:    Translation:Humans
  156. Camposano SE, Greenberg E, Kwiatkowski DJ, Thiele EA. Distinct clinical characteristics of tuberous sclerosis complex patients with no mutation identified. Ann Hum Genet. 2009 Mar; 73(2):141-6. PMID: 19133941.
    Citations: 11     Fields:    Translation:Humans
  157. Wheless JW, Carmant L, Bebin M, Conry JA, Chiron C, Elterman RD, Frost M, Paolicchi JM, Donald Shields W, Thiele EA, Zupanc ML, Collins SD. Magnetic resonance imaging abnormalities associated with vigabatrin in patients with epilepsy. Epilepsia. 2009 Feb; 50(2):195-205. PMID: 19054414.
    Citations: 27     Fields:    Translation:Humans
  158. Pfeifer HH, Lyczkowski DA, Thiele EA. Low glycemic index treatment: implementation and new insights into efficacy. Epilepsia. 2008 Nov; 49 Suppl 8:42-5. PMID: 19049585.
    Citations: 22     Fields:    Translation:HumansPHPublic Health
  159. Kossoff EH, Zupec-Kania BA, Amark PE, Ballaban-Gil KR, Christina Bergqvist AG, Blackford R, Buchhalter JR, Caraballo RH, Helen Cross J, Dahlin MG, Donner EJ, Klepper J, Jehle RS, Kim HD, Christiana Liu YM, Nation J, Nordli DR, Pfeifer HH, Rho JM, Stafstrom CE, Thiele EA, Turner Z, Wirrell EC, Wheless JW, Veggiotti P, Vining EP. Optimal clinical management of children receiving the ketogenic diet: recommendations of the International Ketogenic Diet Study Group. Epilepsia. 2009 Feb; 50(2):304-17. PMID: 18823325.
    Citations: 103     Fields:    Translation:Humans
  160. Muzykewicz DA, Costello DJ, Halpern EF, Thiele EA. Infantile spasms in tuberous sclerosis complex: prognostic utility of EEG. Epilepsia. 2009 Feb; 50(2):290-6. PMID: 18801034.
    Citations: 16     Fields:    Translation:Humans
  161. Staley BA, Montenegro MA, Major P, Muzykewicz DA, Halpern EF, Kopp CM, Newberry P, Thiele EA. Self-injurious behavior and tuberous sclerosis complex: frequency and possible associations in a population of 257 patients. Epilepsy Behav. 2008 Nov; 13(4):650-3. PMID: 18703161.
    Citations: 11     Fields:    Translation:Humans
  162. Major P, Greenberg E, Khan A, Thiele EA. Pyridoxine supplementation for the treatment of levetiracetam-induced behavior side effects in children: preliminary results. Epilepsy Behav. 2008 Oct; 13(3):557-9. PMID: 18647662.
    Citations: 16     Fields:    Translation:HumansCTClinical Trials
  163. Kopp CM, Muzykewicz DA, Staley BA, Thiele EA, Pulsifer MB. Behavior problems in children with tuberous sclerosis complex and parental stress. Epilepsy Behav. 2008 Oct; 13(3):505-10. PMID: 18602868.
    Citations: 18     Fields:    Translation:Humans
  164. Camposano SE, Major P, Halpern E, Thiele EA. Vigabatrin in the treatment of childhood epilepsy: a retrospective chart review of efficacy and safety profile. Epilepsia. 2008 Jul; 49(7):1186-91. PMID: 18479386.
    Citations: 21     Fields:    Translation:Humans
  165. 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.
    Citations: 8     Fields:    Translation:HumansCTClinical Trials
  166. Major P, Thiele EA. Vagus nerve stimulation for intractable epilepsy in tuberous sclerosis complex. Epilepsy Behav. 2008 Aug; 13(2):357-60. PMID: 18468492.
    Citations: 10     Fields:    Translation:Humans
  167. Paul E, Thiele E. Efficacy of sirolimus in treating tuberous sclerosis and lymphangioleiomyomatosis. N Engl J Med. 2008 Jan 10; 358(2):190-2. PMID: 18184966.
    Citations: 14     Fields:    Translation:Humans
  168. Lyczkowski DA, Conant KD, Pulsifer MB, Jarrett DY, Grant PE, Kwiatkowski DJ, Thiele EA. Intrafamilial phenotypic variability in tuberous sclerosis complex. J Child Neurol. 2007 Dec; 22(12):1348-55. PMID: 18174550.
    Citations: 8     Fields:    Translation:Humans
  169. Major P, Thiele EA. Seizures in children: laboratory diagnosis and management. Pediatr Rev. 2007 Nov; 28(11):405-14. PMID: 17974703.
    Citations: 2     Fields:    Translation:Humans
  170. Muzykewicz DA, Newberry P, Danforth N, Halpern EF, Thiele EA. Psychiatric comorbid conditions in a clinic population of 241 patients with tuberous sclerosis complex. Epilepsy Behav. 2007 Dec; 11(4):506-13. PMID: 17936687.
    Citations: 37     Fields:    Translation:Humans
  171. Conant KD, Morgan AK, Muzykewicz D, Clark DC, Thiele EA. A karate program for improving self-concept and quality of life in childhood epilepsy: results of a pilot study. Epilepsy Behav. 2008 Jan; 12(1):61-5. PMID: 17923439.
    Citations: 8     Fields:    Translation:HumansCTClinical Trials
  172. Major P, Thiele EA. Seizures in children: determining the variation. Pediatr Rev. 2007 Oct; 28(10):363-71. PMID: 17908858.
    Citations: 2     Fields:    Translation:Humans
  173. Thiele EA, Sorensen RE, Gazzinelli A, Minchella DJ. Genetic diversity and population structuring of Schistosoma mansoni in a Brazilian village. Int J Parasitol. 2008 Mar; 38(3-4):389-99. PMID: 17825305; PMCID: PMC2476926.
    Citations: 27     Fields:    Translation: