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Somatic Mutations in UBA1 and Severe Adult-Onset Autoinflammatory Disease.
N Engl J Med. 2020 Dec 31;383(27):2628-2638. doi: 10.1056/NEJMoa2026834. Epub 2020 Oct 27.
N Engl J Med. 2020.
PMID: 33108101
Free PMC article.
VEXAS Syndrome: A Case Series From a Single-Center Cohort of Italian Patients With Vasculitis.
Muratore F, Marvisi C, Castrignanò P, Nicoli D, Farnetti E, Bonanno O, Longo R, Zaldini P, Galli E, Balanda N, Beck DB, Grayson PC, Pipitone N, Boiardi L, Salvarani C.
Muratore F, et al. Among authors: balanda n.
Arthritis Rheumatol. 2022 Apr;74(4):665-670. doi: 10.1002/art.41992. Epub 2022 Mar 3.
Arthritis Rheumatol. 2022.
PMID: 34611997
Free PMC article.
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A comprehensive, multidisciplinary, precision medicine approach to discover effective therapy for an undiagnosed, progressive, fibroinflammatory disease.
Gochuico BR, Ziegler SG, Ten NS, Balanda NJ, Mason CE, Zumbo P, Evans CA, Van Waes C, Gahl WA, Malicdan MCV.
Gochuico BR, et al. Among authors: balanda nj.
Transl Res. 2020 Jan;215:31-40. doi: 10.1016/j.trsl.2019.08.008. Epub 2019 Aug 28.
Transl Res. 2020.
PMID: 31520587
Free PMC article.
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Biallelic variants in two complex I genes cause abnormal splicing defects in probands with mild Leigh syndrome.
Johnstone T, Wang J, Ross D, Balanda N, Huang Y, Godfrey R, Groden C, Barton BR, Gahl W, Toro C, Malicdan MCV.
Johnstone T, et al. Among authors: balanda n.
Mol Genet Metab. 2020 Sep-Oct;131(1-2):98-106. doi: 10.1016/j.ymgme.2020.09.008. Epub 2020 Oct 14.
Mol Genet Metab. 2020.
PMID: 33097395
Free PMC article.
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Bi-allelic TMEM94 Truncating Variants Are Associated with Neurodevelopmental Delay, Congenital Heart Defects, and Distinct Facial Dysmorphism.
Stephen J, Maddirevula S, Nampoothiri S, Burke JD, Herzog M, Shukla A, Steindl K, Eskin A, Patil SJ, Joset P, Lee H, Garrett LJ, Yokoyama T, Balanda N, Bodine SP, Tolman NJ, Zerfas PM, Zheng A, Ramantani G, Girisha KM, Rivas C, Suresh PV, Elkahloun A, Alsaif HS, Wakil SM, Mahmoud L, Ali R, Prochazkova M; Undiagnosed Diseases Network members; Kulkarni AB, Ben-Omran T, Colak D, Morris HD, Rauch A, Martinez-Agosto JA, Nelson SF, Alkuraya FS, Gahl WA, Malicdan MCV.
Stephen J, et al. Among authors: balanda n.
Am J Hum Genet. 2018 Dec 6;103(6):948-967. doi: 10.1016/j.ajhg.2018.11.001.
Am J Hum Genet. 2018.
PMID: 30526868
Free PMC article.
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Shared and distinct mechanisms of UBA1 inactivation across different diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A.
Collins JC, et al. Among authors: balanda n.
EMBO J. 2024 May;43(10):1919-1946. doi: 10.1038/s44318-024-00046-z. Epub 2024 Feb 15.
EMBO J. 2024.
PMID: 38360993
Free PMC article.
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Shared and Distinct Mechanisms of UBA1 Inactivation Across Different Diseases.
Collins JC, Magaziner SJ, English M, Hassan B, Chen X, Balanda N, Anderson M, Lam A, Fernandez-Pol S, Kwong B, Greenberg PL, Terrier B, Likhite ME, Kosmider O, Wang Y, Samara NL, Walters KJ, Beck DB, Werner A.
Collins JC, et al. Among authors: balanda n.
bioRxiv [Preprint]. 2023 Oct 10:2023.10.10.561769. doi: 10.1101/2023.10.10.561769.
bioRxiv. 2023.
PMID: 37873213
Free PMC article.
Updated.
Preprint.
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