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Assessing the landscape of STXBP1-related disorders in 534 individuals.
Xian J, Parthasarathy S, Ruggiero SM, Balagura G, Fitch E, Helbig K, Gan J, Ganesan S, Kaufman MC, Ellis CA, Lewis-Smith D, Galer P, Cunningham K, O'Brien M, Cosico M, Baker K, Darling A, Veiga de Goes F, El Achkar CM, Doering JH, Furia F, García-Cazorla Á, Gardella E, Geertjens L, Klein C, Kolesnik-Taylor A, Lammertse H, Lee J, Mackie A, Misra-Isrie M, Olson H, Sexton E, Sheidley B, Smith L, Sotero L, Stamberger H, Syrbe S, Thalwitzer KM, van Berkel A, van Haelst M, Yuskaitis C, Weckhuysen S, Prosser B, Son Rigby C, Demarest S, Pierce S, Zhang Y, Møller RS, Bruining H, Poduri A, Zara F, Verhage M, Striano P, Helbig I. Xian J, et al. Among authors: cosico m. Brain. 2022 Jun 3;145(5):1668-1683. doi: 10.1093/brain/awab327. Brain. 2022. PMID: 35190816 Free PMC article.
A disease concept model for STXBP1-related disorders.
Sullivan KR, Ruggiero SM, Xian J, Thalwitzer KM, Ali R, Stewart S, Cosico M, Steinberg J, Goss J, Pfalzer AC, Horning KJ, Weitzel N, Corey S, Conway L, Rigby CS, Bichell TJ, Helbig I. Sullivan KR, et al. Among authors: cosico m. Epilepsia Open. 2023 Jun;8(2):320-333. doi: 10.1002/epi4.12688. Epub 2023 Apr 27. Epilepsia Open. 2023. PMID: 36625631 Free PMC article.
Headache Characteristics in Children With Pseudotumor Cerebri Syndrome, Elevated Opening Pressure Without Papilledema, and Normal Opening Pressure: A Retrospective Cohort Study.
Hamedani AG, Witonsky KFR, Cosico M, Rennie R, Xiao R, Sheldon CA, Paley GL, McCormack SE, Liu GW, Friedman DI, Liu GT, Szperka CL. Hamedani AG, et al. Among authors: cosico m. Headache. 2018 Oct;58(9):1339-1346. doi: 10.1111/head.13362. Epub 2018 Aug 23. Headache. 2018. PMID: 30137653 Free PMC article.
Patient headache questionnaires can improve headache diagnosis and treatment in children.
Szperka CL, Witzman S, Ostapenko S, Farrar JT, Hsu JY, Malavolta CP, Bunney JD, Bange EM, Patterson Gentile C, Velasquez G, Marquez de Prado B, Cosico M, Lee M, Pojomovsky McDonnell P, Prelack MS, Chadehumbe MA, Stephenson DJ, Kichula EA, Tomaine SC, Hershey AD. Szperka CL, et al. Among authors: cosico m. Headache. 2023 Nov-Dec;63(10):1359-1371. doi: 10.1111/head.14643. Epub 2023 Nov 17. Headache. 2023. PMID: 37975482