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828 results

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Page 1
Defective peripheral B cell selection in common variable immune deficiency patients with autoimmune manifestations.
Friman V, Quinti I, Davydov AN, Shugay M, Farroni C, Engström E, Pour Akaber S, Barresi S, Mohamed A, Pulvirenti F, Milito C, Granata G, Giorda E, Ahlström S, Karlsson J, Marasco E, Marcellini V, Bocci C, Cascioli S, Scarsella M, Phad G, Tilevik A, Tartaglia M, Bemark M, Chudakov DM, Carsetti R, Grimsholm O. Friman V, et al. Among authors: tartaglia m. Cell Rep. 2023 May 30;42(5):112446. doi: 10.1016/j.celrep.2023.112446. Epub 2023 Apr 27. Cell Rep. 2023. PMID: 37119135 Free article.
A Solve-RD ClinVar-based reanalysis of 1522 index cases from ERN-ITHACA reveals common pitfalls and misinterpretations in exome sequencing.
Denommé-Pichon AS, Matalonga L, de Boer E, Jackson A, Benetti E, Banka S, Bruel AL, Ciolfi A, Clayton-Smith J, Dallapiccola B, Duffourd Y, Ellwanger K, Fallerini C, Gilissen C, Graessner H, Haack TB, Havlovicova M, Hoischen A, Jean-Marçais N, Kleefstra T, López-Martín E, Macek M, Mencarelli MA, Moutton S, Pfundt R, Pizzi S, Posada M, Radio FC, Renieri A, Rooryck C, Ryba L, Safraou H, Schwarz M, Tartaglia M, Thauvin-Robinet C, Thevenon J, Tran Mau-Them F, Trimouille A, Votypka P, de Vries BBA, Willemsen MH, Zurek B, Verloes A, Philippe C; Solve-RD DITF-ITHACA; Solve-RD SNV-indel Working Group; Solve-RD Consortia; Orphanomix Group; Vitobello A, Vissers LELM, Faivre L. Denommé-Pichon AS, et al. Among authors: tartaglia m. Genet Med. 2023 Apr;25(4):100018. doi: 10.1016/j.gim.2023.100018. Epub 2023 Jan 20. Genet Med. 2023. PMID: 36681873 Free article.
History of traumatic brain injury is associated with increased grey-matter loss in patients with mild cognitive impairment.
Khoury MA, Churchill NW, Di Battista A, Graham SJ, Symons S, Troyer AK, Roberts A, Kumar S, Tan B, Arnott SR, Ramirez J, Tartaglia MC, Borrie M, Pollock B, Rajji TK, Pasternak SH, Frank A, Tang-Wai DF, Scott CJM, Haddad SMH, Nanayakkara N, Orange JB, Peltsch A, Fischer CE, Munoz DG, Schweizer TA. Khoury MA, et al. Among authors: tartaglia mc. J Neurol. 2024 May 8. doi: 10.1007/s00415-024-12369-2. Online ahead of print. J Neurol. 2024. PMID: 38717612
A case of T-cell acute lymphoblastic leukemia in retroviral gene therapy for ADA-SCID.
Cesana D, Cicalese MP, Calabria A, Merli P, Caruso R, Volpin M, Rudilosso L, Migliavacca M, Barzaghi F, Fossati C, Gazzo F, Pizzi S, Ciolfi A, Bruselles A, Tucci F, Spinozzi G, Pais G, Benedicenti F, Barcella M, Merelli I, Gallina P, Giannelli S, Dionisio F, Scala S, Casiraghi M, Strocchio L, Vinti L, Pacillo L, Draghi E, Cesana M, Riccardo S, Colantuono C, Six E, Cavazzana M, Carlucci F, Schmidt M, Cancrini C, Ciceri F, Vago L, Cacchiarelli D, Gentner B, Naldini L, Tartaglia M, Montini E, Locatelli F, Aiuti A. Cesana D, et al. Among authors: tartaglia m. Nat Commun. 2024 Apr 30;15(1):3662. doi: 10.1038/s41467-024-47866-5. Nat Commun. 2024. PMID: 38688902 Free PMC article.
Biallelic Variants of MRPS36 Cause a New Form of Leigh Syndrome.
Galosi S, Mancini C, Commone A, Calligari P, Caputo V, Nardecchia F, Carducci C, van den Heuvel LP, Pizzi S, Bruselles A, Niceta M, Martinelli S, Rodenburg RJ, Tartaglia M, Leuzzi V. Galosi S, et al. Among authors: tartaglia m. Mov Disord. 2024 Apr 30. doi: 10.1002/mds.29795. Online ahead of print. Mov Disord. 2024. PMID: 38685873
Evaluating cell culture reliability in pediatric brain tumor primary cells through DNA methylation profiling.
Pedace L, Pizzi S, Abballe L, Vinci M, Antonacci C, Patrizi S, Nardini C, Del Bufalo F, Rossi S, Pericoli G, Gianno F, Besharat ZM, Tiberi L, Mastronuzzi A, Ferretti E, Tartaglia M, Locatelli F, Ciolfi A, Miele E. Pedace L, et al. Among authors: tartaglia m. NPJ Precis Oncol. 2024 Apr 18;8(1):92. doi: 10.1038/s41698-024-00578-x. NPJ Precis Oncol. 2024. PMID: 38637626 Free PMC article.
Revisiting the relevance of Hirano bodies in neurodegenerative diseases.
Yoshida K, Forrest SL, Ichimata S, Tanaka H, Kon T, Tartaglia MC, Tator CH, Lang AE, Nishida N, Kovacs GG. Yoshida K, et al. Among authors: tartaglia mc. Neuropathol Appl Neurobiol. 2024 Apr;50(2):e12978. doi: 10.1111/nan.12978. Neuropathol Appl Neurobiol. 2024. PMID: 38634242
Gene specific effects on brain volume and cognition of TMEM106B in frontotemporal lobar degeneration.
Vandebergh M, Ramos EM, Corriveau-Lecavalier N, Ramanan VK, Kornak J, Mester C, Kolander T, Brushaber D, Staffaroni AM, Geschwind D, Wolf A, Kantarci K, Gendron TF, Petrucelli L, Van den Broeck M, Wynants S, Baker MC, Borrego-Écija S, Appleby B, Barmada S, Bozoki A, Clark D, Darby RR, Dickerson BC, Domoto-Reilly K, Fields JA, Galasko DR, Ghoshal N, Graff-Radford N, Grant IM, Honig LS, Hsiung GR, Huey ED, Irwin D, Knopman DS, Kwan JY, Léger GC, Litvan I, Masdeu JC, Mendez MF, Onyike C, Pascual B, Pressman P, Ritter A, Roberson ED, Snyder A, Sullivan AC, Tartaglia MC, Wint D, Heuer HW, Forsberg LK, Boxer AL, Rosen HJ, Boeve BF, Rademakers R. Vandebergh M, et al. Among authors: tartaglia mc. medRxiv [Preprint]. 2024 Apr 5:2024.04.05.24305253. doi: 10.1101/2024.04.05.24305253. medRxiv. 2024. PMID: 38633784 Free PMC article. Preprint.
RAF1 gene fusions are recurrent driver events in infantile fibrosarcoma-like mesenchymal tumors.
Motta M, Barresi S, Pizzi S, Bifano D, Lopez Marti J, Garrido-Pontnou M, Flex E, Bruselles A, Giovannoni I, Rotundo G, Fragale A, Tirelli V, Vallese S, Ciolfi A, Bisogno G, Alaggio R, Tartaglia M. Motta M, et al. Among authors: tartaglia m. J Pathol. 2024 Jun;263(2):166-177. doi: 10.1002/path.6272. Epub 2024 Apr 17. J Pathol. 2024. PMID: 38629245
828 results