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Page 1
Phenotype Spectrum of TRPM3-Associated Disorders.
Jolitz L, Helbig I, Fitzgerald MP, McKeown Ruggiero S, Cohen S, Angelini C, Vallespin E, Michaud V, Gerasimenko A, Cogne B, Isidor B, Keren B, Dyment D, Heron D, Karstensen HG, Cuppen I, Christodoulou J, Wilson M, Lake NJ, Biskup S, Syrbe S, Mori T, Becker LL, Kaindl AM. Jolitz L, et al. Among authors: fitzgerald mp. Ann Neurol. 2025 Jan 3. doi: 10.1002/ana.27141. Online ahead of print. Ann Neurol. 2025. PMID: 39749750
Global modified Delphi consensus on diagnosis, phenotypes, and treatment of SCN8A-related epilepsy and/or neurodevelopmental disorders.
Conecker G, Xia MY, Hecker J, Achkar C, Cukiert C, Devries S, Donner E, Fitzgerald MP, Gardella E, Hammer M, Hegde A, Hu C, Kato M, Luo T, Schreiber JM, Wang Y, Kooistra T, Oudin M, Waldrop K, Youngquist JT, Zhang D, Wirrell E, Perry MS. Conecker G, et al. Among authors: fitzgerald mp. Epilepsia. 2024 Aug;65(8):2322-2338. doi: 10.1111/epi.17992. Epub 2024 May 27. Epilepsia. 2024. PMID: 38802994
De novo variants in DENND5B cause a neurodevelopmental disorder.
Scala M, Tomati V, Ferla M, Lena M, Cohen JS, Fatemi A, Brokamp E, Bican A, Phillips JA 3rd, Koziura ME, Nicouleau M, Rio M, Siquier K, Boddaert N, Musante I, Tamburro S, Baldassari S, Iacomino M, Scudieri P; Undiagnosed Diseases Network; Rosenfeld JA, Bellus G, Reed S, Al Saif H, Russo RS, Walsh MB, Cantagrel V, Crunk A, Gustincich S, Ruggiero SM, Fitzgerald MP, Helbig I, Striano P, Severino M, Salpietro V, Pedemonte N, Zara F. Scala M, et al. Among authors: fitzgerald mp. Am J Hum Genet. 2024 Mar 7;111(3):529-543. doi: 10.1016/j.ajhg.2024.02.001. Epub 2024 Feb 21. Am J Hum Genet. 2024. PMID: 38387458 Free PMC article.
Periodic Discharges in Critically Ill Children: Predictors and Outcome.
Fung FW, Parikh DS, Massey SL, Fitzgerald MP, Vala L, Donnelly M, Jacobwitz M, Kessler SK, Xiao R, Topjian AA, Abend NS. Fung FW, et al. Among authors: fitzgerald mp. J Clin Neurophysiol. 2024 May 1;41(4):297-304. doi: 10.1097/WNP.0000000000000986. Epub 2023 Dec 1. J Clin Neurophysiol. 2024. PMID: 38079254
A quality improvement initiative to improve folic acid supplementation counseling for adolescent females with epilepsy.
Molisani SE, Parikh D, DiGiovine M, Dlugos D, Fitzgerald MP, Fried L, Helbig I, Kessler SK, McDonnell PP, Melamed S, Prelack MS, Sharif U, Tefft S, Tencer J, Witzman S, Shaw K, Abend NS. Molisani SE, et al. Among authors: fitzgerald mp. Epilepsia. 2023 Oct;64(10):2818-2826. doi: 10.1111/epi.17723. Epub 2023 Aug 4. Epilepsia. 2023. PMID: 37496463
Leveraging electronic medical record-embedded standardised electroencephalogram reporting to develop neonatal seizure prediction models: a retrospective cohort study.
McKee JL, Kaufman MC, Gonzalez AK, Fitzgerald MP, Massey SL, Fung F, Kessler SK, Witzman S, Abend NS, Helbig I. McKee JL, et al. Among authors: fitzgerald mp. Lancet Digit Health. 2023 Apr;5(4):e217-e226. doi: 10.1016/S2589-7500(23)00004-3. Lancet Digit Health. 2023. PMID: 36963911 Free PMC article.
211 results