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RADX Gene Variant May Predispose to Familial Asperger Syndrome.
Azzarà A, Rumore R, Brugnoletti F, Tabolacci E, Bottillo I, Sangiorgi E, Gurrieri F. Azzarà A, et al. Among authors: gurrieri f. Genes (Basel). 2023 Jan 23;14(2):301. doi: 10.3390/genes14020301. Genes (Basel). 2023. PMID: 36833228 Free PMC article.
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.
CHAMP1-related disorders: pathomechanisms triggered by different genomic alterations define distinct nosological categories.
Amenta S, Marangi G, Orteschi D, Frangella S, Gurrieri F, Paccagnella E; Telethon Undiagnosed Diseases Program (TUDP) Study Group; Scala M, Romano F, Capra V, Nigro V, Zollino M. Amenta S, et al. Among authors: gurrieri f. Eur J Hum Genet. 2023 Jun;31(6):648-653. doi: 10.1038/s41431-023-01305-z. Epub 2023 Feb 16. Eur J Hum Genet. 2023. PMID: 36797464 Review.
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.
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
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