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Hydroxychloroquine modulates immunological pathways activated by RNA:DNA hybrids in Aicardi-Goutières syndrome patients carrying RNASEH2 mutations.
Garau J, Sproviero D, Dragoni F, Piscianz E, Santonicola C, Tonduti D, Carelli S, Tesser A, Zuccotti GV, Tommasini A, Orcesi S, Pansarasa O, Cereda C. Garau J, et al. Among authors: orcesi s. Cell Mol Immunol. 2021 Jun;18(6):1593-1595. doi: 10.1038/s41423-021-00657-0. Epub 2021 Mar 11. Cell Mol Immunol. 2021. PMID: 33707687 Free PMC article. No abstract available.
New case of 4H syndrome and a review of the literature.
Orcesi S, Tonduti D, Uggetti C, Larizza D, Fazzi E, Balottin U. Orcesi S, et al. Pediatr Neurol. 2010 May;42(5):359-64. doi: 10.1016/j.pediatrneurol.2010.01.015. Pediatr Neurol. 2010. PMID: 20399393 Review.
Spinal cord calcification in an early-onset progressive leukoencephalopathy.
Orcesi S, La Piana R, Uggetti C, Tonduti D, Pichiecchio A, Pasin M, Viselner G, Comi GP, Del Bo R, Ronchi D, Bastianello S, Balottin U. Orcesi S, et al. J Child Neurol. 2011 Jul;26(7):876-80. doi: 10.1177/0883073810390038. Epub 2011 Mar 22. J Child Neurol. 2011. PMID: 21427441
MCT8 deficiency: extrapyramidal symptoms and delayed myelination as prominent features.
Tonduti D, Vanderver A, Berardinelli A, Schmidt JL, Collins CD, Novara F, Genni AD, Mita A, Triulzi F, Brunstrom-Hernandez JE, Zuffardi O, Balottin U, Orcesi S. Tonduti D, et al. Among authors: orcesi s. J Child Neurol. 2013 Jun;28(6):795-800. doi: 10.1177/0883073812450944. Epub 2012 Jul 17. J Child Neurol. 2013. PMID: 22805248 Free PMC article.
Therapies in Aicardi-Goutières syndrome.
Crow YJ, Vanderver A, Orcesi S, Kuijpers TW, Rice GI. Crow YJ, et al. Among authors: orcesi s. Clin Exp Immunol. 2014 Jan;175(1):1-8. doi: 10.1111/cei.12115. Clin Exp Immunol. 2014. PMID: 23607857 Free PMC article. Review.
159 results