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Genotype-Phenotype Correlation and Functional Insights for Two Monoallelic TREX1 Missense Variants Affecting the Catalytic Core.
Amico G, Hemphill WO, Severino M, Moratti C, Pascarella R, Bertamino M, Napoli F, Volpi S, Rosamilia F, Signa S, Perrino F, Zedde M, Ceccherini I, On Behalf Of The Gaslini Stroke Study Group. Amico G, et al. Among authors: pascarella r. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
Improving the phenotype description of Basel-Vanagaite-Smirin-Yosef syndrome, MED25-related: polymicrogyria as a distinctive neuroradiological finding.
Maini I, Errichiello E, Caraffi SG, Rosato S, Bizzarri V, Pollazzon M, Trimarchi G, Contrò G, Cavirani B, Gelmini C, Napoli M, Moratti C, Pascarella R, Rizzi S, Fusco C, Zuffardi O, Garavelli L. Maini I, et al. Among authors: pascarella r. Neurogenetics. 2021 Mar;22(1):19-25. doi: 10.1007/s10048-020-00625-2. Epub 2020 Aug 20. Neurogenetics. 2021. PMID: 32816121
Severe intellectual disability, absence of language, epilepsy, microcephaly and progressive cerebellar atrophy related to the recurrent de novo variant p.(P139L) of the CAMK2B gene: A case report and brief review.
Rizzi S, Spagnoli C, Salerno GG, Frattini D, Caraffi SG, Trimarchi G, Moratti C, Pascarella R, Garavelli L, Fusco C. Rizzi S, et al. Among authors: pascarella r. Am J Med Genet A. 2020 Nov;182(11):2675-2679. doi: 10.1002/ajmg.a.61803. Epub 2020 Sep 1. Am J Med Genet A. 2020. PMID: 32875707
Extracranial metastases in secondary glioblastoma multiforme: a case report.
Rossi J, Giaccherini L, Cavallieri F, Napoli M, Moratti C, Froio E, Serra S, Fraternali A, Ghadirpour R, Cozzi S, Ciammella P, Iaccarino C, Pascarella R, Valzania F, Pisanello A. Rossi J, et al. Among authors: pascarella r. BMC Neurol. 2020 Oct 21;20(1):382. doi: 10.1186/s12883-020-01959-y. BMC Neurol. 2020. PMID: 33087049 Free PMC article.
Adducted Thumb and Peripheral Polyneuropathy: Diagnostic Supports in Suspecting White-Sutton Syndrome: Case Report and Review of the Literature.
Trimarchi G, Caraffi SG, Radio FC, Barresi S, Contrò G, Pizzi S, Maini I, Pollazzon M, Fusco C, Sassi S, Nicoli D, Napoli M, Pascarella R, Gargano G, Zuffardi O, Tartaglia M, Garavelli L. Trimarchi G, et al. Among authors: pascarella r. Genes (Basel). 2021 Jun 22;12(7):950. doi: 10.3390/genes12070950. Genes (Basel). 2021. PMID: 34206215 Free PMC article.
COVID-19 and Parkinson's disease: a casual association or a possible second hit in neurodegeneration?
Cavallieri F, Fioravanti V, Toschi G, Grisanti S, Napoli M, Moratti C, Pascarella R, Versari A, Fraternali A, Casali M, Paul JJ, Moro E, Bauer P, Zedde M, Valzania F. Cavallieri F, et al. Among authors: pascarella r. J Neurol. 2022 Jan;269(1):59-61. doi: 10.1007/s00415-021-10694-4. Epub 2021 Jul 3. J Neurol. 2022. PMID: 34216264 Free PMC article. No abstract available.
Clinical Management of Moyamoya Patients.
Canavero I, Vetrano IG, Zedde M, Pascarella R, Gatti L, Acerbi F, Nava S, Ferroli P, Parati EA, Bersano A. Canavero I, et al. Among authors: pascarella r. J Clin Med. 2021 Aug 17;10(16):3628. doi: 10.3390/jcm10163628. J Clin Med. 2021. PMID: 34441923 Free PMC article. Review.
157 results