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Page 1
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. Brain. 2024 Jun 3;147(6):2085-2097. doi: 10.1093/brain/awae055. Brain. 2024. PMID: 38735647 Free PMC article.
Investigating Splice Defects in USH2A Using Targeted Long-Read Sequencing.
Chandrasekhar S, Lin S, Jurkute N, Oprych K, Estramiana Elorrieta L, Schiff E, Malka S, Wright G, Michaelides M, Mahroo OA, Webster AR, Arno G. Chandrasekhar S, et al. Cells. 2024 Jul 26;13(15):1261. doi: 10.3390/cells13151261. Cells. 2024. PMID: 39120292 Free PMC article.
OPA1 and disease-causing mutants perturb mitochondrial nucleoid distribution.
Macuada J, Molina-Riquelme I, Vidal G, Pérez-Bravo N, Vásquez-Trincado C, Aedo G, Lagos D, Yu-Wai-Man P, Horvath R, Rudge TJ, Cartes-Saavedra B, Eisner V. Macuada J, et al. Cell Death Dis. 2024 Nov 30;15(11):870. doi: 10.1038/s41419-024-07165-9. Cell Death Dis. 2024. PMID: 39616197 Free PMC article.
26 results