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Quantitative proteomics of patient fibroblasts reveal biomarkers and diagnostic signatures of mitochondrial disease.
Correia SP, Moedas MF, Taylor LS, Naess K, Lim AZ, McFarland R, Kazior Z, Rumyantseva A, Wibom R, Engvall M, Bruhn H, Lesko N, Végvári Á, Käll L, Trost M, Alston CL, Freyer C, Taylor RW, Wedell A, Wredenberg A. Correia SP, et al. Among authors: lim az. JCI Insight. 2024 Oct 22;9(20):e178645. doi: 10.1172/jci.insight.178645. JCI Insight. 2024. PMID: 39288270 Free PMC article.
Natural History of Leigh Syndrome: A Study of Disease Burden and Progression.
Lim AZ, Ng YS, Blain A, Jiminez-Moreno C, Alston CL, Nesbitt V, Simmons L, Santra S, Wassmer E, Blakely EL, Turnbull DM, Taylor RW, Gorman GS, McFarland R. Lim AZ, et al. Ann Neurol. 2022 Jan;91(1):117-130. doi: 10.1002/ana.26260. Epub 2021 Nov 12. Ann Neurol. 2022. PMID: 34716721 Free PMC article.
RRM2B Mitochondrial DNA Maintenance Defects.
Lim AZ, McFarland R, Taylor RW, Gorman GS. Lim AZ, et al. 2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. 2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2025. PMID: 24741716 Free Books & Documents. Review.
Current and Emerging Clinical Treatment in Mitochondrial Disease.
Tinker RJ, Lim AZ, Stefanetti RJ, McFarland R. Tinker RJ, et al. Among authors: lim az. Mol Diagn Ther. 2021 Mar;25(2):181-206. doi: 10.1007/s40291-020-00510-6. Epub 2021 Mar 1. Mol Diagn Ther. 2021. PMID: 33646563 Free PMC article. Review.
12 results