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Late-Onset Aicardi-Goutières Syndrome: A Characterization of Presenting Clinical Features.
Piccoli C, Bronner N, Gavazzi F, Dubbs H, De Simone M, De Giorgis V, Orcesi S, Fazzi E, Galli J, Masnada S, Tonduti D, Varesio C, Vanderver A, Vossough A, Adang L. Piccoli C, et al. Among authors: varesio c. Pediatr Neurol. 2021 Feb;115:1-6. doi: 10.1016/j.pediatrneurol.2020.10.012. Epub 2020 Nov 2. Pediatr Neurol. 2021. PMID: 33307271 Free PMC article.
The epileptology of Aicardi-Goutières syndrome: electro-clinical-radiological findings.
De Giorgis V, Varesio C, Viri M, Giordano L, La Piana R, Tonduti D, Roncarolo F, Masnada S, Pichiecchio A, Veggiotti P, Fazzi E, Orcesi S; Italian AGS Study Group. De Giorgis V, et al. Among authors: varesio c. Seizure. 2021 Mar;86:197-209. doi: 10.1016/j.seizure.2020.11.019. Epub 2020 Dec 1. Seizure. 2021. PMID: 33589296 Free article.
Case Report: Novel Compound Heterozygous RNASEH2B Mutations Cause Aicardi-Goutières Syndrome.
Garau J, Masnada S, Dragoni F, Sproviero D, Fogolari F, Gagliardi S, Izzo G, Varesio C, Orcesi S, Veggiotti P, Zuccotti GV, Pansarasa O, Tonduti D, Cereda C. Garau J, et al. Among authors: varesio c. Front Immunol. 2021 Apr 26;12:672952. doi: 10.3389/fimmu.2021.672952. eCollection 2021. Front Immunol. 2021. PMID: 33981319 Free PMC article.
Diagnostic Yield and Cost-Effectiveness of "Dynamic" Exome Analysis in Epilepsy with Neurodevelopmental Disorders: A Tertiary-Center Experience in Northern Italy.
Varesio C, Gana S, Asaro A, Ballante E, Cabini RF, Tartara E, Bagnaschi M, Pasca L, Valente M, Orcesi S, Cereda C, Veggiotti P, Borgatti R, Valente EM, De Giorgis V. Varesio C, et al. Diagnostics (Basel). 2021 May 25;11(6):948. doi: 10.3390/diagnostics11060948. Diagnostics (Basel). 2021. PMID: 34070668 Free PMC article.
EEG at onset and MRI predict long-term clinical outcome in Aicardi syndrome.
Masnada S, Alfei E, Formica M, Previtali R, Accorsi P, Arrigoni F, Bonanni P, Borgatti R, Darra F, Fusco C, De Giorgis V, Giordano L, La Briola F, Orcesi S, Osanni E, Parazzini C, Pinelli L, Rebessi E, Romaniello R, Romeo A, Spagnoli C, Uebler C, Varesio C, Viri M, Zucca C, Pichiecchio A, Veggiotti P. Masnada S, et al. Among authors: varesio c. Clin Neurophysiol. 2022 Oct;142:112-124. doi: 10.1016/j.clinph.2022.07.496. Epub 2022 Aug 3. Clin Neurophysiol. 2022. PMID: 36030575
Comparison between D-loop methylation and mtDNA copy number in patients with Aicardi-Goutières Syndrome.
Dragoni F, Garau J, Orcesi S, Varesio C, Bordoni M, Scarian E, Di Gerlando R, Fazzi E, Battini R, Gjurgjaj A, Rizzo B, Pansarasa O, Gagliardi S. Dragoni F, et al. Among authors: varesio c. Front Endocrinol (Lausanne). 2023 Mar 14;14:1152237. doi: 10.3389/fendo.2023.1152237. eCollection 2023. Front Endocrinol (Lausanne). 2023. PMID: 36998476 Free PMC article.
Expanding the Natural History of SNORD118-Related Ribosomopathy: Hints from an Early-Diagnosed Patient with Leukoencephalopathy with Calcifications and Cysts and Overview of the Literature.
Politano D, Catalano G, Pezzotti E, Varesio C, Sirchia F, Casella A, Rognone E, Pichiecchio A, Borgatti R, Orcesi S. Politano D, et al. Among authors: varesio c. Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817. Genes (Basel). 2023. PMID: 37761957 Free PMC article.
44 results