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Loss-of-function mutations in UDP-Glucose 6-Dehydrogenase cause recessive developmental epileptic encephalopathy.
Hengel H, Bosso-Lefèvre C, Grady G, Szenker-Ravi E, Li H, Pierce S, Lebigot É, Tan TT, Eio MY, Narayanan G, Utami KH, Yau M, Handal N, Deigendesch W, Keimer R, Marzouqa HM, Gunay-Aygun M, Muriello MJ, Verhelst H, Weckhuysen S, Mahida S, Naidu S, Thomas TG, Lim JY, Tan ES, Haye D, Willemsen MAAP, Oegema R, Mitchell WG, Pierson TM, Andrews MV, Willing MC, Rodan LH, Barakat TS, van Slegtenhorst M, Gavrilova RH, Martinelli D, Gilboa T, Tamim AM, Hashem MO, AlSayed MD, Abdulrahim MM, Al-Owain M, Awaji A, Mahmoud AAH, Faqeih EA, Asmari AA, Algain SM, Jad LA, Aldhalaan HM, Helbig I, Koolen DA, Riess A, Kraegeloh-Mann I, Bauer P, Gulsuner S, Stamberger H, Ng AYJ, Tang S, Tohari S, Keren B, Schultz-Rogers LE, Klee EW, Barresi S, Tartaglia M, Mor-Shaked H, Maddirevula S, Begtrup A, Telegrafi A, Pfundt R, Schüle R, Ciruna B, Bonnard C, Pouladi MA, Stewart JC, Claridge-Chang A, Lefeber DJ, Alkuraya FS, Mathuru AS, Venkatesh B, Barycki JJ, Simpson MA, Jamuar SS, Schöls L, Reversade B. Hengel H, et al. Among authors: mitchell wg. Nat Commun. 2020 Jan 30;11(1):595. doi: 10.1038/s41467-020-14360-7. Nat Commun. 2020. PMID: 32001716 Free PMC article.
Both gain-of-function and loss-of-function de novo CACNA1A mutations cause severe developmental epileptic encephalopathies in the spectrum of Lennox-Gastaut syndrome.
Jiang X, Raju PK, D'Avanzo N, Lachance M, Pepin J, Dubeau F, Mitchell WG, Bello-Espinosa LE, Pierson TM, Minassian BA, Lacaille JC, Rossignol E. Jiang X, et al. Among authors: mitchell wg. Epilepsia. 2019 Sep;60(9):1881-1894. doi: 10.1111/epi.16316. Epub 2019 Aug 29. Epilepsia. 2019. PMID: 31468518
Long-term safety and efficacy of add-on cannabidiol in patients with Lennox-Gastaut syndrome: Results of a long-term open-label extension trial.
Patel AD, Mazurkiewicz-Bełdzińska 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. Patel AD, et al. Epilepsia. 2021 Sep;62(9):2228-2239. doi: 10.1111/epi.17000. Epub 2021 Jul 20. Epilepsia. 2021. PMID: 34287833 Clinical Trial.
An International Pediatric-Onset Opsoclonus-Myoclonus Ataxia Syndrome Registry and Clinical Research Network: Development, Progress, and Vision.
Kerr LM, Ryan ME, Lim M, Hearn S, Klein A, Deiva K, Hopkins SE, Bacchus MK, Sokol EA, Waanders AJ, Mitchell WG, Khakoo Y, Lotze TE, Zhang B, Gorman MP. Kerr LM, et al. Among authors: mitchell wg. Pediatr Neurol. 2023 Nov;148:145-147. doi: 10.1016/j.pediatrneurol.2023.05.006. Epub 2023 May 16. Pediatr Neurol. 2023. PMID: 37716108 No abstract available.
Fairness and generalizability of OCT normative databases: a comparative analysis.
Nakayama LF, Zago Ribeiro L, de Oliveira JAE, de Matos JCRG, Mitchell WG, Malerbi FK, Celi LA, Regatieri CVS. Nakayama LF, et al. Among authors: mitchell wg. Int J Retina Vitreous. 2023 Aug 21;9(1):48. doi: 10.1186/s40942-023-00459-8. Int J Retina Vitreous. 2023. PMID: 37605208 Free PMC article.
The intestinal microbiota predicts COVID-19 severity and fatality regardless of hospital feeding method.
Bucci V, Ward DV, Bhattarai S, Rojas-Correa M, Purkayastha A, Holler D, Qu MD, Mitchell WG, Yang J, Fountain S, Zeamer A, Forconi CS, Fujimori G, Odwar B, Cawley C, Moormann AM, Wessolossky M, Maldonado-Contreras A. Bucci V, et al. Among authors: mitchell wg. mSystems. 2023 Aug 31;8(4):e0031023. doi: 10.1128/msystems.00310-23. Epub 2023 Aug 7. mSystems. 2023. PMID: 37548476 Free PMC article.
150 results