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Page 1
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: signa s. Genes (Basel). 2022 Jun 30;13(7):1179. doi: 10.3390/genes13071179. Genes (Basel). 2022. PMID: 35885962 Free PMC article.
Clinical Characteristics of Patients Carrying the Q703K Variant of the NLRP3 Gene: A 10-year Multicentric National Study.
Naselli A, Penco F, Cantarini L, Insalaco A, Alessio M, Tommasini A, Maggio C, Obici L, Gallizzi R, Cimmino M, Signa S, Lucherini OM, Carta S, Caroli F, Martini A, Rubartelli A, Ceccherini I, Gattorno M. Naselli A, et al. Among authors: signa s. J Rheumatol. 2016 Jun;43(6):1093-100. doi: 10.3899/jrheum.150962. Epub 2016 Apr 1. J Rheumatol. 2016. PMID: 27036377
CD70 Deficiency due to a Novel Mutation in a Patient with Severe Chronic EBV Infection Presenting As a Periodic Fever.
Caorsi R, Rusmini M, Volpi S, Chiesa S, Pastorino C, Sementa AR, Uva P, Grossi A, Lanino E, Faraci M, Minoia F, Signa S, Picco P, Martini A, Ceccherini I, Gattorno M. Caorsi R, et al. Among authors: signa s. Front Immunol. 2018 Jan 29;8:2015. doi: 10.3389/fimmu.2017.02015. eCollection 2017. Front Immunol. 2018. PMID: 29434583 Free PMC article.
Impact on rehabilitation programs during COVID-19 containment for children with pediatric and perinatal stroke.
Bertamino M, Cornaglia S, Zanetti A, Di Rocco A, Ronchetti A, Signa S, Severino M, Moretti P; Gaslini Stroke Study Group. Bertamino M, et al. Among authors: signa s. Eur J Phys Rehabil Med. 2020 Oct;56(5):692-694. doi: 10.23736/S1973-9087.20.06407-2. Epub 2020 Jun 9. Eur J Phys Rehabil Med. 2020. PMID: 32519529 Free article. No abstract available.
Dysregulation in B-cell responses and T follicular helper cell function in ADA2 deficiency patients.
Schena F, Penco F, Volpi S, Pastorino C, Caorsi R, Kalli F, Fenoglio D, Salis A, Bertoni A, Prigione I, Bocca P, Insalaco A, De Benedetti F, Antonini F, Grossi A, Signa S, Damonte G, Ceccherini I, Filaci G, Traggiai E, Gattorno M. Schena F, et al. Among authors: signa s. Eur J Immunol. 2021 Jan;51(1):206-219. doi: 10.1002/eji.202048549. Epub 2020 Aug 28. Eur J Immunol. 2021. PMID: 32707604 Free article.
An atypical case of post-varicella stroke in a child presenting with hemichorea followed by late-onset inflammatory focal cerebral arteriopathy.
Bertamino M, Signa S, Vagelli G, Caorsi R, Zanetti A, Volpi S, Losurdo G, Amico G, Dodi I, Prato G, Ronchetti AB, Di Rocco M, Nagel M, Severino M. Bertamino M, et al. Among authors: signa s. Quant Imaging Med Surg. 2021 Jan;11(1):463-471. doi: 10.21037/qims-20-628. Quant Imaging Med Surg. 2021. PMID: 33392044 Free PMC article. No abstract available.
Widening the Neuroimaging Features of Adenosine Deaminase 2 Deficiency.
Geraldo AF, Caorsi R, Tortora D, Gandolfo C, Ammendola R, Alessio M, Conti G, Insalaco A, Pastore S, Martino S, Ceccherini I, Signa S, Gattorno M, Rossi A, Severino M. Geraldo AF, et al. Among authors: signa s. AJNR Am J Neuroradiol. 2021 May;42(5):975-979. doi: 10.3174/ajnr.A7019. Epub 2021 Feb 25. AJNR Am J Neuroradiol. 2021. PMID: 33632736 Free PMC article.
Biallelic variants in LIG3 cause a novel mitochondrial neurogastrointestinal encephalomyopathy.
Bonora E, Chakrabarty S, Kellaris G, Tsutsumi M, Bianco F, Bergamini C, Ullah F, Isidori F, Liparulo I, Diquigiovanni C, Masin L, Rizzardi N, Cratere MG, Boschetti E, Papa V, Maresca A, Cenacchi G, Casadio R, Martelli P, Matera I, Ceccherini I, Fato R, Raiola G, Arrigo S, Signa S, Sementa AR, Severino M, Striano P, Fiorillo C, Goto T, Uchino S, Oyazato Y, Nakamura H, Mishra SK, Yeh YS, Kato T, Nozu K, Tanboon J, Morioka I, Nishino I, Toda T, Goto YI, Ohtake A, Kosaki K, Yamaguchi Y, Nonaka I, Iijima K, Mimaki M, Kurahashi H, Raams A, MacInnes A, Alders M, Engelen M, Linthorst G, de Koning T, den Dunnen W, Dijkstra G, van Spaendonck K, van Gent DC, Aronica EM, Picco P, Carelli V, Seri M, Katsanis N, Duijkers FAM, Taniguchi-Ikeda M, De Giorgio R. Bonora E, et al. Among authors: signa s. Brain. 2021 Jun 22;144(5):1451-1466. doi: 10.1093/brain/awab056. Brain. 2021. PMID: 33855352 Free article.
Expanding the clinical and neuroimaging features of post-varicella arteriopathy of childhood.
Bertamino M, Signa S, Veneruso M, Prato G, Caorsi R, Losurdo G, Teutonico F, Esposito S, Formica F, Tovaglieri N, Nagel MA, Amico G, Zanetti A, Tortora D, Rossi A, Moretti P, Gattorno M, Ravelli A, Severino M; in behalf of Gaslini Stroke Study Group. Bertamino M, et al. Among authors: signa s. J Neurol. 2021 Dec;268(12):4846-4865. doi: 10.1007/s00415-021-10606-6. Epub 2021 May 27. J Neurol. 2021. PMID: 34046727
41 results