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Table representation of search results timeline featuring number of search results per year.

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 2

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39 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 Feb 15:awae046. doi: 10.1093/brain/awae046. Online ahead of print. Brain. 2024. PMID: 38366623
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.
Cytogenetic Analysis of Sporadic First-Trimester Miscarriage Specimens Using Karyotyping and QF-PCR: A Retrospective Romanian Cohort Study.
Popescu-Hobeanu G, Riza AL, Streață I, Tudorache Ș, Comănescu A, Tănase F, Drăgușin RC, Pascu C, Dijmărescu AL, Cara ML, Dorobanțu Ș, Petre-Mandache B, Cucu M, Sosoi SS, Ioana M, Iliescu D, Burada F. Popescu-Hobeanu G, et al. Among authors: streata i. Genes (Basel). 2022 Nov 29;13(12):2246. doi: 10.3390/genes13122246. Genes (Basel). 2022. PMID: 36553513 Free PMC article.
39 results