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Page 1
Distinct neurological disorders with ATP1A3 mutations.
Heinzen EL, Arzimanoglou A, Brashear A, Clapcote SJ, Gurrieri F, Goldstein DB, Jóhannesson SH, Mikati MA, Neville B, Nicole S, Ozelius LJ, Poulsen H, Schyns T, Sweadner KJ, van den Maagdenberg A, Vilsen B; ATP1A3 Working Group. Heinzen EL, et al. Among authors: gurrieri f. Lancet Neurol. 2014 May;13(5):503-14. doi: 10.1016/S1474-4422(14)70011-0. Lancet Neurol. 2014. PMID: 24739246 Free PMC article. Review.
A pathogenic variant in the FLCN gene presenting with pure dementia: is autophagy at the intersection between neurodegeneration and cancer?
Bottillo I, Laino L, Azzarà A, Lintas C, Cassano I, Di Lazzaro V, Ursini F, Motolese F, Bargiacchi S, Formicola D, Grammatico P, Gurrieri F. Bottillo I, et al. Among authors: gurrieri f. Front Neurosci. 2024 Jan 5;17:1304080. doi: 10.3389/fnins.2023.1304080. eCollection 2023. Front Neurosci. 2024. PMID: 38249578 Free PMC article.
Exome sequencing of ATP1A3-negative cases of alternating hemiplegia of childhood reveals SCN2A as a novel causative gene.
Panagiotakaki E, Tiziano FD, Mikati MA, Vijfhuizen LS, Nicole S, Lesca G, Abiusi E, Novelli A, Di Pietro L; I.B.AHC Consortium; IAHCRC Consortium; Harder AVE, Walley NM, De Grandis E, Poulat AL, Portes VD, Lépine A, Nassogne MC, Arzimanoglou A, Vavassori R, Koenderink J, Thompson CH, George AL Jr, Gurrieri F, van den Maagdenberg AMJM, Heinzen EL. Panagiotakaki E, et al. Among authors: gurrieri f. Eur J Hum Genet. 2024 Feb;32(2):224-231. doi: 10.1038/s41431-023-01489-4. Epub 2023 Dec 14. Eur J Hum Genet. 2024. PMID: 38097767
Severe chronic primary neutropenia: findings from a patient who underwent exstensive evaluation including adenosine deaminase 2 gene variant assessment.
Paciaroni K, Sangiorgi E, Pulvirenti F, Villiva N, Andrizzi C, Campagna S, Tordi A, Celesti F, Manna R, Gurrieri F, Licci S, di Toritto TC. Paciaroni K, et al. Among authors: gurrieri f. Leuk Lymphoma. 2023 Dec;64(14):2343-2346. doi: 10.1080/10428194.2023.2255912. Epub 2023 Sep 12. Leuk Lymphoma. 2023. PMID: 37698115 No abstract available.
Strongyloides stercoralis infection: an underlying cause of invasive bacterial infections of enteric origin. Results from a prospective cross-sectional study of a northern Italian tertiary hospital.
Gardini G, Froeschl G, Gurrieri F, De Francesco MA, Cattaneo C, Marchese V, Piccinelli G, Corbellini S, Pagani C, Santagiuliana M, Fumarola B, Gulletta M, Perandin F, Castelli F, Matteelli A. Gardini G, et al. Among authors: gurrieri f. Infection. 2023 Oct;51(5):1541-1548. doi: 10.1007/s15010-023-02072-1. Epub 2023 Jul 18. Infection. 2023. PMID: 37462896 Free PMC article.
Simultaneous presence of Brugada and overgrowth syndromes.
Segreti A, Piccirillo F, Crispino SP, Cocchia F, Martucciello A, Calabrese V, Gurrieri F, Grigioni F. Segreti A, et al. Among authors: gurrieri f. Monaldi Arch Chest Dis. 2023 Apr 27;94(1). doi: 10.4081/monaldi.2023.2521. Monaldi Arch Chest Dis. 2023. PMID: 37114354 Free article.
110 results