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Neuropathy target esterase activity defines phenotypes among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev YV, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski MR, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent AL, Siskind CE, Traboulsi EI, Blackstone C, Sisk RA, Miraldi Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: han m. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Neuropathy target esterase activity predicts retinopathy among PNPLA6 disorders.
Liu J, He Y, Lwin C, Han M, Guan B, Naik A, Bender C, Moore N, Huryn LA, Sergeev Y, Qian H, Zeng Y, Dong L, Liu P, Lei J, Haugen CJ, Prasov L, Shi R, Dollfus H, Aristodemou P, Laich Y, Németh AH, Taylor J, Downes S, Krawczynski M, Meunier I, Strassberg M, Tenney J, Gao J, Shear MA, Moore AT, Duncan JL, Menendez B, Hull S, Vincent A, Siskind CE, Traboulsi EI, Blackstone C, Sisk R, Utz V, Webster AR, Michaelides M, Arno G, Synofzik M, Hufnagel RB. Liu J, et al. Among authors: han m. bioRxiv [Preprint]. 2023 Jun 11:2023.06.09.544373. doi: 10.1101/2023.06.09.544373. bioRxiv. 2023. Update in: Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. PMID: 37333224 Free PMC article. Updated. Preprint.
Association of urine mitochondrial DNA with clinical measures of COPD in the SPIROMICS cohort.
Zhang WZ, Rice MC, Hoffman KL, Oromendia C, Barjaktarevic IZ, Wells JM, Hastie AT, Labaki WW, Cooper CB, Comellas AP, Criner GJ, Krishnan JA, Paine R 3rd, Hansel NN, Bowler RP, Barr RG, Peters SP, Woodruff PG, Curtis JL, Han MK, Ballman KV, Martinez FJ, Choi AM, Nakahira K, Cloonan SM, Choi ME; SPIROMICS Investigators. Zhang WZ, et al. Among authors: han mk. JCI Insight. 2024 Jun 24;9(12):e181925. doi: 10.1172/jci.insight.181925. JCI Insight. 2024. PMID: 38912587 Free article. No abstract available.
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