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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2017 | 1 |
2018 | 1 |
2021 | 1 |
2023 | 1 |
2024 | 0 |
PubMed (cited) for id: 618768
4 results
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Page 1
A novel homozygous synonymous splicing variant in SELENOI gene causes spastic paraplegia 81.
J Gene Med. 2023 Jul;25(7):e3501. doi: 10.1002/jgm.3501. Epub 2023 Apr 4.
J Gene Med. 2023.
PMID: 36942482
Defective phosphatidylethanolamine biosynthesis leads to a broad ataxia-spasticity spectrum.
Kaiyrzhanov R, Wortmann S, Reid T, Dehghani M, Vahidi Mehrjardi MY, Alhaddad B, Wagner M, Deschauer M, Cordts I, Fernandez-Murray JP, Treffer V, Metanat Z, Pitman A, Houlden H, Meitinger T, Carroll C, McMaster CR, Maroofian R.
Kaiyrzhanov R, et al.
Brain. 2021 Apr 12;144(3):e30. doi: 10.1093/brain/awaa442.
Brain. 2021.
PMID: 33454747
Free PMC article.
No abstract available.
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EPT1 (selenoprotein I) is critical for the neural development and maintenance of plasmalogen in humans.
Horibata Y, Elpeleg O, Eran A, Hirabayashi Y, Savitzki D, Tal G, Mandel H, Sugimoto H.
Horibata Y, et al.
J Lipid Res. 2018 Jun;59(6):1015-1026. doi: 10.1194/jlr.P081620. Epub 2018 Mar 2.
J Lipid Res. 2018.
PMID: 29500230
Free PMC article.
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A mutation of EPT1 (SELENOI) underlies a new disorder of Kennedy pathway phospholipid biosynthesis.
Ahmed MY, Al-Khayat A, Al-Murshedi F, Al-Futaisi A, Chioza BA, Pedro Fernandez-Murray J, Self JE, Salter CG, Harlalka GV, Rawlins LE, Al-Zuhaibi S, Al-Azri F, Al-Rashdi F, Cazenave-Gassiot A, Wenk MR, Al-Salmi F, Patton MA, Silver DL, Baple EL, McMaster CR, Crosby AH.
Ahmed MY, et al.
Brain. 2017 Mar 1;140(3):547-554. doi: 10.1093/brain/aww318.
Brain. 2017.
PMID: 28052917
Free PMC article.
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