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Mitochondrial diseases in Hong Kong: prevalence, clinical characteristics and genetic landscape.
Wong TS, Belaramani KM, Chan CK, Chan WK, Chan WL, Chang SK, Cheung SN, Cheung KY, Cheung YF, Chong SJ, Chow CJ, Chung HB, Fan SF, Fok WJ, Fong KW, Fung TS, Hui KF, Hui TH, Hui J, Ko CH, Kwan MC, Kwok MA, Kwok SJ, Lai MS, Lam YO, Lam CW, Lau MC, Law CE, Lee WC, Lee HH, Lee CN, Leung KH, Leung KY, Li SH, Ling TJ, Liu KT, Lo FM, Lui HT, Luk CO, Luk HM, Ma CK, Ma K, Ma KH, Mew YN, Mo A, Ng SF, Poon WG, Rodenburg R, Sheng B, Smeitink J, Szeto CC, Tai SM, Tse CA, Tsung LL, Wong HJ, Wong WW, Wong KK, Wong SS, Wong CV, Wong WS, Wong CF, Wu SP, Wu HJ, Yau MM, Yau KE, Yeung WL, Yeung HJ, Yip KE, Young PT, Yuan G, Yuen YL, Yuen CL, Fung CW. Wong TS, et al. Among authors: smeitink j. Orphanet J Rare Dis. 2023 Mar 2;18(1):43. doi: 10.1186/s13023-023-02632-6. Orphanet J Rare Dis. 2023. PMID: 36859275 Free PMC article.
A novel mitochondrial ATP8 gene mutation in a patient with apical hypertrophic cardiomyopathy and neuropathy.
Jonckheere AI, Hogeveen M, Nijtmans L, van den Brand M, Janssen A, Diepstra H, van den Brandt F, van den Heuvel B, Hol F, Hofste T, Kapusta L, Dillmann U, Shamdeen M, Smeitink J, Smeitink J, Rodenburg R. Jonckheere AI, et al. Among authors: smeitink j. BMJ Case Rep. 2009;2009:bcr07.2008.0504. doi: 10.1136/bcr.07.2008.0504. Epub 2009 Jan 23. BMJ Case Rep. 2009. PMID: 21686774 Free PMC article.
The decylTPP mitochondria-targeting moiety lowers electron transport chain supercomplex levels in primary human skin fibroblasts.
Bulthuis EP, Einer C, Distelmaier F, Groh L, van Emst-de Vries SE, van de Westerlo E, van de Wal M, Wagenaars J, Rodenburg RJ, Smeitink JAM, Riksen NP, Willems PHGM, Adjobo-Hermans MJW, Zischka H, Koopman WJH. Bulthuis EP, et al. Among authors: smeitink jam. Free Radic Biol Med. 2022 Aug 1;188:434-446. doi: 10.1016/j.freeradbiomed.2022.06.011. Epub 2022 Jun 17. Free Radic Biol Med. 2022. PMID: 35718301 Free article.
428 results