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A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Among authors: matsell e. Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9. Epub 2024 Jul 27. Neurogenetics. 2024. PMID: 39066872 Free PMC article.
A novel missense variant in the ATPase domain of ATP8A2 and review of phenotypic variability of ATP8A2-related disorders caused by missense changes.
Flannery KP, Safwat S, Matsell E, Battula N, Hamed AAA, Mohamed IN, Elseed MA, Koko M, Abubaker R, Abozar F, Elsayed LEO, Bhise V, Molday RS, Salih MA, Yahia A, Manzini MC. Flannery KP, et al. Among authors: matsell e. medRxiv [Preprint]. 2024 May 15:2024.05.15.24306843. doi: 10.1101/2024.05.15.24306843. medRxiv. 2024. Update in: Neurogenetics. 2024 Oct;25(4):425-433. doi: 10.1007/s10048-024-00773-9 PMID: 38798571 Free PMC article. Updated. Preprint.
On the track of the lipid transport pathway of the phospholipid flippase ATP8A2 - Mutation analysis of residues of the transmembrane segments M1, M2, M3 and M4.
Mogensen LS, Mikkelsen SA, Tadini-Buoninsegni F, Holm R, Matsell E, Vilsen B, Molday RS, Andersen JP. Mogensen LS, et al. Among authors: matsell e. Biochim Biophys Acta Mol Cell Res. 2024 Jan;1871(1):119570. doi: 10.1016/j.bbamcr.2023.119570. Epub 2023 Sep 9. Biochim Biophys Acta Mol Cell Res. 2024. PMID: 37678495 Free article. Review.
The impact of small kidneys.
Matsell DG, Cojocaru D, Matsell EW, Eddy AA. Matsell DG, et al. Among authors: matsell ew. Pediatr Nephrol. 2015 Sep;30(9):1501-9. doi: 10.1007/s00467-015-3079-5. Epub 2015 Mar 21. Pediatr Nephrol. 2015. PMID: 25794549