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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: orcesi s. Genes (Basel). 2023 Sep 19;14(9):1817. doi: 10.3390/genes14091817. Genes (Basel). 2023. PMID: 37761957 Free PMC article.
Interface Gain-of-Function Mutations in TLR7 Cause Systemic and Neuro-inflammatory Disease.
David C, Badonyi M, Kechiche R, Insalaco A, Zecca M, De Benedetti F, Orcesi S, Chiapparini L, Comoli P, Federici S, Gattorno M, Ginevrino M, Giorgio E, Matteo V, Moran-Alvarez P, Politano D, Prencipe G, Sirchia F, Volpi S, Masson C, Rice GI, Frémond ML, Lepelley A, Marsh JA, Crow YJ. David C, et al. Among authors: orcesi s. J Clin Immunol. 2024 Feb 7;44(2):60. doi: 10.1007/s10875-024-01660-6. J Clin Immunol. 2024. PMID: 38324161 Free PMC article.
"Relapsing-Remitting" Ataxia and Unexpected Brain Imaging in a Child with HIBCH Deficiency.
Gana S, Rossetto G, Garau J, Vacchini V, Ferraro F, Rognone E, Pichiecchio A, Gasperini S, Valente EM, Orcesi S. Gana S, et al. Among authors: orcesi s. Mov Disord Clin Pract. 2024 Nov;11(11):1454-1457. doi: 10.1002/mdc3.14190. Epub 2024 Aug 14. Mov Disord Clin Pract. 2024. PMID: 39140302 Free PMC article. No abstract available.
166 results