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863 results

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Page 1
L-serine treatment in patients with GRIN-related encephalopathy: a phase 2A, non-randomized study.
Juliá-Palacios N, Olivella M, Sigatullina Bondarenko M, Ibáñez-Micó S, Muñoz-Cabello B, Alonso-Luengo O, Soto-Insuga V, García-Navas D, Cuesta-Herraiz L, Andreo-Lillo P, Aguilera-Albesa S, Hedrera-Fernández A, González Alguacil E, Sánchez-Carpintero R, Martín Del Valle F, Jiménez González E, Cean Cabrera L, Medina-Rivera I, Perez-Ordoñez M, Colomé R, Lopez L, Engracia Cazorla M, Fornaguera M, Ormazabal A, Alonso-Colmenero I, Illescas KS, Balsells-Mejía S, Mari-Vico R, Duffo Viñas M, Cappuccio G, Terrone G, Romano R, Manti F, Mastrangelo M, Alfonsi C, de Siqueira Barros B, Nizon M, Gjerulfsen CE, Muro VL, Karall D, Zeiner F, Masnada S, Peterlongo I, Oyarzábal A, Santos-Gómez A, Altafaj X, García-Cazorla Á. Juliá-Palacios N, et al. Among authors: romano r. Brain. 2024 May 3;147(5):1653-1666. doi: 10.1093/brain/awae041. Brain. 2024. PMID: 38380699 Clinical Trial.
Functional effects of disease-associated variants reveal that the S1-M1 linker of the NMDA receptor critically controls channel opening.
Xie L, McDaniel MJ, Perszyk RE, Kim S, Cappuccio G, Shapiro KA, Muñoz-Cabello B, Sanchez-Lara PA, Grand K, Zhang J, Nocilla KA, Sheikh R, Armengol L, Romano R, Pierson TM, Yuan H, Myers SJ, Traynelis SF. Xie L, et al. Among authors: romano r. Cell Mol Life Sci. 2023 Mar 31;80(4):110. doi: 10.1007/s00018-023-04705-y. Cell Mol Life Sci. 2023. PMID: 37000222 Free PMC article.
Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Akira I, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: romano r. J Clin Immunol. 2023 Nov;43(8):2115-2125. doi: 10.1007/s10875-023-01584-7. Epub 2023 Sep 28. J Clin Immunol. 2023. PMID: 37770806
Correction to: Antibody Deficiency in Patients with Biallelic KARS1 Mutations.
Saettini F, Guerra F, Fazio G, Bugarin C, McMillan HJ, Ohtake A, Ardissone A, Itoh M, Giglio S, Cappuccio G, Giardino G, Romano R, Quadri M, Gasperini S, Moratto D, Chiarini M, Ishiguro A, Fukuhara Y, Hayakawa I, Okazaki Y, Mauri M, Piazza R, Cazzaniga G, Biondi A. Saettini F, et al. Among authors: romano r. J Clin Immunol. 2023 Nov;43(8):2126. doi: 10.1007/s10875-023-01600-w. J Clin Immunol. 2023. PMID: 37921915 No abstract available.
Case report: EBV-related eye orbits and sinuses lymphohistiocytic infiltration responsive to rituximab in a patient with X lymphoproliferative syndrome type 1.
Giardino G, Lanni V, Mascolo M, Russo D, Cirillo E, Romano R, Cillo F, Grilli L, Prencipe MR, Iuliano A, Uccello G, De Fusco C, Menna G, Scalia G, Portella G, Pignata C. Giardino G, et al. Among authors: romano r. Front Immunol. 2024 Apr 3;15:1370991. doi: 10.3389/fimmu.2024.1370991. eCollection 2024. Front Immunol. 2024. PMID: 38633254 Free PMC article.
Immunological Aspects of Kabuki Syndrome: A Retrospective Multicenter Study of the Italian Primary Immunodeficiency Network (IPINet).
Rossini L, Ricci S, Montin D, Azzari C, Gambineri E, Tellini M, Conti F, Pession A, Saettini F, Naviglio S, Valencic E, Magnolato A, Baselli L, Azzolini S, Consolini R, Leonardi L, D'Alba I, Carraro E, Romano R, Melis D, Stagi S, Cirillo E, Giardino G, Biffi A, Pignata C, Putti MC, Marzollo A. Rossini L, et al. Among authors: romano r. J Clin Immunol. 2024 Apr 27;44(5):105. doi: 10.1007/s10875-024-01676-y. J Clin Immunol. 2024. PMID: 38676773
The Inborn Errors of Immunity-Virtual Consultation System Platform in Service for the Italian Primary Immunodeficiency Network: Results from the Validation Phase.
Coppola E, Sgrulletti M, Cortesi M, Romano R, Cirillo E, Giardino G, Dotta L, Cancrini C, Bruzzese D, Badolato R, Moschese V, Pignata C; in collaboration with IEI-VCS Task Force. Coppola E, et al. Among authors: romano r. J Clin Immunol. 2024 Jan 17;44(2):47. doi: 10.1007/s10875-023-01644-y. J Clin Immunol. 2024. PMID: 38231401 Free PMC article.
Understanding the Variability of 22q11.2 Deletion Syndrome: The Role of Epigenetic Factors.
Cillo F, Coppola E, Habetswallner F, Cecere F, Pignata L, Toriello E, De Rosa A, Grilli L, Ammendola A, Salerno P, Romano R, Cirillo E, Merla G, Riccio A, Pignata C, Giardino G. Cillo F, et al. Among authors: romano r. Genes (Basel). 2024 Feb 29;15(3):321. doi: 10.3390/genes15030321. Genes (Basel). 2024. PMID: 38540380 Free PMC article. Review.
863 results