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Year Number of Results
2014 2
2015 2
2016 3
2017 4
2018 3
2019 1
2020 4
2021 7
2022 6
2023 7
2024 10
2025 5

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51 results

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Page 1
SNUPN deficiency causes a recessive muscular dystrophy due to RNA mis-splicing and ECM dysregulation.
Nashabat M, Nabavizadeh N, Saraçoğlu HP, Sarıbaş B, Avcı Ş, Börklü E, Beillard E, Yılmaz E, Uygur SE, Kayhan CK, Bosco L, Eren ZB, Steindl K, Richter MF, Bademci G, Rauch A, Fattahi Z, Valentino ML, Connolly AM, Bahr A, Viola L, Bergmann AK, Rocha ME, Peart L, Castro-Rojas DL, Bültmann E, Khan S, Giarrana ML, Teleanu RI, Gonzalez JM, Pini A, Schädlich IS, Vill K, Brugger M, Zuchner S, Pinto A, Donkervoort S, Bivona SA, Riza A; Undiagnosed Diseases Network; Streata I, Gläser D, Baquero-Montoya C, Garcia-Restrepo N, Kotzaeridou U, Brunet T, Epure DA, Bertoli-Avella A, Kariminejad A, Tekin M, von Hardenberg S, Bönnemann CG, Stettner GM, Zanni G, Kayserili H, Oflazer ZP, Escande-Beillard N. Nashabat M, et al. Among authors: streata i. Nat Commun. 2024 Feb 27;15(1):1758. doi: 10.1038/s41467-024-45933-5. Nat Commun. 2024. PMID: 38413582 Free PMC article.
Biallelic variants in SNUPN cause a limb girdle muscular dystrophy with myofibrillar-like features.
Iruzubieta P, Damborenea A, Ioghen M, Bajew S, Fernandez-Torrón R, Töpf A, Herrero-Reiriz Á, Epure D, Vill K, Hernández-Laín A, Manterola M, Azkargorta M, Pikatza-Menoio O, Pérez-Fernandez L, García-Puga M, Gaina G, Bastian A, Streata I, Walter MC, Müller-Felber W, Thiele S, Moragón S, Bastida-Lertxundi N, López-Cortajarena A, Elortza F, Gereñu G, Alonso-Martin S, Straub V, de Sancho D, Teleanu R, López de Munain A, Blázquez L. Iruzubieta P, et al. Among authors: streata i. Brain. 2024 Aug 1;147(8):2867-2883. doi: 10.1093/brain/awae046. Brain. 2024. PMID: 38366623 Free PMC article.
Sepsis pathogenesis and outcome are shaped by the balance between the transcriptional states of systemic inflammation and antimicrobial response.
Brandes-Leibovitz R, Riza A, Yankovitz G, Pirvu A, Dorobantu S, Dragos A, Streata I, Ricaño-Ponce I, de Nooijer A, Dumitrescu F, Antonakos N, Antoniadou E, Dimopoulos G, Koutsodimitropoulos I, Kontopoulou T, Markopoulou D, Aimoniotou E, Komnos A, Dalekos GN, Ioana M, Giamarellos-Bourboulis EJ, Gat-Viks I, Netea MG. Brandes-Leibovitz R, et al. Among authors: streata i. Cell Rep Med. 2024 Nov 19;5(11):101829. doi: 10.1016/j.xcrm.2024.101829. Cell Rep Med. 2024. PMID: 39566468 Free PMC article.
Phenotype Heterogeneity in 3q29 Microduplication Syndrome.
Streata I, Riza AL, Sosoi S, Burada F, Ioana M. Streata I, et al. Curr Health Sci J. 2020 Apr-Jun;46(2):193-197. doi: 10.12865/CHSJ.46.02.14. Epub 2020 Jun 30. Curr Health Sci J. 2020. PMID: 32874693 Free PMC article.
Greig Cephalopolysyndactyly Contiguous Gene Syndrome: Case Report and Literature Review.
Kozma K, Bembea M, Jurca CM, Ioana M, Streață I, Şoşoi SŞ, Pirvu A, Petchesi CD, Szilágyi A, Sava CN, Jurca A, Ujfalusi A, Szűcs Z, Szakszon K. Kozma K, et al. Among authors: streata i. Genes (Basel). 2021 Oct 23;12(11):1674. doi: 10.3390/genes12111674. Genes (Basel). 2021. PMID: 34828280 Free PMC article. Review.
Regulation of plasma soluble receptors of TNF and IL-1 in patients with COVID-19 differs from that observed in sepsis.
Aksu MD, van der Ent T, Zhang Z, Riza AL, de Nooijer AH, Ricaño-Ponce I, Janssen N, Engel JJ, Streata I, Dijkstra H, Lemmers H, Grondman I, Koeken VACM, Antoniadou E, Antonakos N, van de Veerdonk FL, Li Y, Giamarellos-Bourboulis EJ, Netea MG, Ziogas A. Aksu MD, et al. Among authors: streata i. J Infect. 2024 Dec;89(6):106300. doi: 10.1016/j.jinf.2024.106300. Epub 2024 Sep 30. J Infect. 2024. PMID: 39357572 Free PMC article.
Autistic Behavior as Novel Clinical Finding in OFD1 Syndrome.
Papuc SM, Erbescu A, Glangher A, Streata I, Riza AL, Budisteanu M, Arghir A. Papuc SM, et al. Among authors: streata i. Genes (Basel). 2023 Jan 27;14(2):327. doi: 10.3390/genes14020327. Genes (Basel). 2023. PMID: 36833254 Free PMC article.
First Trimester Ultrasound Detection of Fetal Central Nervous System Anomalies.
Ungureanu DR, Drăgușin RC, Căpitănescu RG, Zorilă L, Ofițeru AMI, Marinaș C, Pătru CL, Comănescu AC, Comănescu MC, Sîrbu OC, Vrabie MS, Dijmărescu LA, Streață I, Burada F, Ioana M, Drăgoescu AN, Iliescu DG. Ungureanu DR, et al. Among authors: streata i. Brain Sci. 2023 Jan 9;13(1):118. doi: 10.3390/brainsci13010118. Brain Sci. 2023. PMID: 36672099 Free PMC article.
51 results