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STUB1-Associated Autosomal-Recessive Spinocerebellar Ataxia Type 16 (SCAR16) Presenting with Gordon-Holmes Syndrome Caused by Maternal Uniparental Isodisomy.
Agianda HAP, Tam A, Kunta A, Zubair U, Saffari A, Rong J, Crough M, Srouji R, Quiroz V, Yang K, Schierbaum L, Ebrahimi-Fakhari D. Agianda HAP, et al. Among authors: quiroz v. Mov Disord Clin Pract. 2024 Dec 27. doi: 10.1002/mdc3.14322. Online ahead of print. Mov Disord Clin Pract. 2024. PMID: 39728009 No abstract available.
Multispecies emergence of dual blaKPC/NDM carbapenemase-producing Enterobacterales recovered from invasive infections in Chile.
Quesille-Villalobos AM, Solar C, Martínez JRW, Rivas L, Quiroz V, González AM, Riquelme-Neira R, Ugalde JA, Peters A, Ortega-Recalde O, Araos R, García P, Lebreton F, Munita JM, Diaz L. Quesille-Villalobos AM, et al. Among authors: quiroz v. Antimicrob Agents Chemother. 2024 Dec 5:e0120524. doi: 10.1128/aac.01205-24. Online ahead of print. Antimicrob Agents Chemother. 2024. PMID: 39636127 Free article.
Biallelic variants in RINT1 present as early-onset pure hereditary spastic paraplegia.
Quiroz V, Planas-Serra L, Sveden A, Tam A, Kim HM, Zubair U, Resch D, Saffari A, Danzi MC, Züchner S, Chopra M, Schierbaum L, Pujol A, Eklund EA, Ebrahimi-Fakhari D. Quiroz V, et al. J Clin Invest. 2024 Jul 11;134(17):e178919. doi: 10.1172/JCI178919. J Clin Invest. 2024. PMID: 38990652 Free PMC article. No abstract available.
41 results