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Page 1
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: kichula ea. Headache. 2023 Nov-Dec;63(10):1359-1371. doi: 10.1111/head.14643. Epub 2023 Nov 17. Headache. 2023. PMID: 37975482
Fractionated plasma N-glycan profiling of novel cohort of ATP6AP1-CDG subjects identifies phenotypic association.
Alharbi H, Daniel EJP, Thies J, Chang I, Goldner DL, Ng BG, Witters P, Aqul A, Velez-Bartolomei F, Enns GM, Hsu E, Kichula E, Lee E, Lourenco C, Poskanzer SA, Rasmussen S, Saarela K, Wang YM, Raymond KM, Schultz MJ, Freeze HH, Lam C, Edmondson AC, He M. Alharbi H, et al. J Inherit Metab Dis. 2023 Mar;46(2):300-312. doi: 10.1002/jimd.12589. Epub 2023 Jan 29. J Inherit Metab Dis. 2023. PMID: 36651831 Free PMC article.
Respiratory Trajectories in Type 2 and 3 Spinal Muscular Atrophy in the iSMAC Cohort Study.
Trucco F, Ridout D, Scoto M, Coratti G, Main ML, Muni Lofra R, Mayhew AG, Montes J, Pane M, Sansone V, Albamonte E, D'Amico A, Bertini E, Messina S, Bruno C, Parasuraman D, Childs AM, Gowda V, Willis T, Ong M, Marini-Bettolo C, De Vivo DC, Darras BT, Day J, Kichula EA, Mayer OH, Navas Nazario AA, Finkel RS, Mercuri E, Muntoni F; International SMA Consortium (iSMAc). Trucco F, et al. Among authors: kichula ea. Neurology. 2021 Jan 26;96(4):e587-e599. doi: 10.1212/WNL.0000000000011051. Epub 2020 Oct 16. Neurology. 2021. PMID: 33067401 Free PMC article.
A multidisciplinary approach to dosing nusinersen for spinal muscular atrophy.
Zingariello CD, Brandsema J, Drum E, Henderson AA, Dubow S, Glanzman AM, Mayer O, Yum SW, Kichula EA. Zingariello CD, et al. Among authors: kichula ea. Neurol Clin Pract. 2019 Oct;9(5):424-432. doi: 10.1212/CPJ.0000000000000718. Neurol Clin Pract. 2019. PMID: 31750028 Free PMC article.
Evaluation of the reliability of the Cutaneous Dermatomyositis Disease Area and Severity Index and the Cutaneous Assessment Tool-Binary Method in juvenile dermatomyositis among paediatric dermatologists, rheumatologists and neurologists.
Tiao J, Feng R, Berger EM, Brandsema JF, Coughlin CC, Khan N, Kichula EA, Lerman MA, Lvovich S, McMahon PJ, Rider LG, Rubin AI, Scalzi LV, Smith DM, Taxter AJ, Treat JR, Williams RP, Yum SW, Okawa J, Werth VP. Tiao J, et al. Among authors: kichula ea. Br J Dermatol. 2017 Oct;177(4):1086-1092. doi: 10.1111/bjd.15596. Epub 2017 Jul 31. Br J Dermatol. 2017. PMID: 28421601 Free PMC article.
Familial dysautonomia is caused by mutations of the IKAP gene.
Anderson SL, Coli R, Daly IW, Kichula EA, Rork MJ, Volpi SA, Ekstein J, Rubin BY. Anderson SL, et al. Among authors: kichula ea. Am J Hum Genet. 2001 Mar;68(3):753-8. doi: 10.1086/318808. Epub 2001 Jan 22. Am J Hum Genet. 2001. PMID: 11179021 Free PMC article.