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albert y lin[Author]
(44 results)?
RRM2B Mitochondrial DNA Maintenance Defects.
2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
2014 Apr 17 [updated 2021 Jun 24]. In: Adam MP, Feldman J, Mirzaa GM, Pagon RA, Wallace SE, Bean LJH, Gripp KW, Amemiya A, editors. GeneReviews® [Internet]. Seattle (WA): University of Washington, Seattle; 1993–2024.
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.
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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.
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Endocrine Manifestations and New Developments in Mitochondrial Disease.
Ng YS, Lim AZ, Panagiotou G, Turnbull DM, Walker M.
Ng YS, et al.
Endocr Rev. 2022 May 12;43(3):583-609. doi: 10.1210/endrev/bnab036.
Endocr Rev. 2022.
PMID: 35552684
Free PMC article.
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A novel, pathogenic dinucleotide deletion in the mitochondrial MT-TY gene causing myasthenia-like features.
Lim AZ, McMacken G, Rastelli F, Oláhová M, Baty K, Hopton S, Falkous G, Töpf A, Lochmüller H, Marini-Bettolo C, McFarland R, Taylor RW.
Lim AZ, et al.
Neuromuscul Disord. 2020 Aug;30(8):661-668. doi: 10.1016/j.nmd.2020.06.008. Epub 2020 Jun 24.
Neuromuscul Disord. 2020.
PMID: 32684384
Free PMC article.
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A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes.
Lim AZ, Blakely EL, Baty K, He L, Hopton S, Falkous G, McWilliam K, Cozens A, McFarland R, Taylor RW.
Lim AZ, et al.
Mitochondrion. 2019 Jul;47:18-23. doi: 10.1016/j.mito.2019.04.007. Epub 2019 Apr 22.
Mitochondrion. 2019.
PMID: 31022467
Free PMC article.
Clinical Trial.
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