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Year | Number of Results |
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Page 1
Modeling mitochondrial DNA diseases: from base editing to pluripotent stem-cell-derived organoids.
EMBO Rep. 2023 Apr 5;24(4):e55678. doi: 10.15252/embr.202255678. Epub 2023 Mar 6.
EMBO Rep. 2023.
PMID: 36876467
Free PMC article.
Review.
CLPB disaggregase dysfunction impacts the functional integrity of the proteolytic SPY complex.
Baker MJ, Blau KU, Anderson AJ, Palmer CS, Fielden LF, Crameri JJ, Milenkovic D, Thorburn DR, Frazier AE, Langer T, Stojanovski D.
Baker MJ, et al.
J Cell Biol. 2024 Mar 4;223(3):e202305087. doi: 10.1083/jcb.202305087. Epub 2024 Jan 25.
J Cell Biol. 2024.
PMID: 38270563
Item in Clipboard
Patient care standards for primary mitochondrial disease in Australia: an Australian adaptation of the Mitochondrial Medicine Society recommendations.
Sue CM, Balasubramaniam S, Bratkovic D, Bonifant C, Christodoulou J, Coman D, Crawley K, Edema-Hildebrand F, Ellaway C, Ghaoui R, Kava M, Kearns LS, Lee J, Liang C, Mackey DA, Murray S, Needham M, Rius R, Russell J, Smith NJC, Thyagarajan D, Wools C.
Sue CM, et al.
Intern Med J. 2022 Jan;52(1):110-120. doi: 10.1111/imj.15505. Epub 2021 Nov 19.
Intern Med J. 2022.
PMID: 34505344
Free PMC article.
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Rothmund-Thomson Syndrome-Like RECQL4 Truncating Mutations Cause a Haploinsufficient Low-Bone-Mass Phenotype in Mice.
Castillo-Tandazo W, Frazier AE, Sims NA, Smeets MF, Walkley CR.
Castillo-Tandazo W, et al.
Mol Cell Biol. 2021 Feb 23;41(3):e0059020. doi: 10.1128/MCB.00590-20. Epub 2020 Dec 23.
Mol Cell Biol. 2021.
PMID: 33361189
Free PMC article.
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Function of hTim8a in complex IV assembly in neuronal cells provides insight into pathomechanism underlying Mohr-Tranebjærg syndrome.
Kang Y, Anderson AJ, Jackson TD, Palmer CS, De Souza DP, Fujihara KM, Stait T, Frazier AE, Clemons NJ, Tull D, Thorburn DR, McConville MJ, Ryan MT, Stroud DA, Stojanovski D.
Kang Y, et al.
Elife. 2019 Nov 4;8:e48828. doi: 10.7554/eLife.48828.
Elife. 2019.
PMID: 31682224
Free PMC article.
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Severe NAD(P)HX Dehydratase (NAXD) Neurometabolic Syndrome May Present in Adulthood after Mild Head Trauma.
Van Bergen NJ, Gunanayagam K, Bournazos AM, Walvekar AS, Warmoes MO, Semcesen LN, Lunke S, Bommireddipalli S, Sikora T, Patraskaki M, Jones DL, Garza D, Sebire D, Gooley S, McLean CA, Naidoo P, Rajasekaran M, Stroud DA, Linster CL, Wallis M, Cooper ST, Christodoulou J.
Van Bergen NJ, et al.
Int J Mol Sci. 2023 Feb 10;24(4):3582. doi: 10.3390/ijms24043582.
Int J Mol Sci. 2023.
PMID: 36834994
Free PMC article.
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