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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
2004 | 1 |
2016 | 2 |
2017 | 2 |
2020 | 1 |
2024 | 0 |
PubMed for id: 1675013450
6 results
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A novel homozygous KY variant causing a complex neurological disorder.
Eur J Med Genet. 2020 Nov;63(11):104031. doi: 10.1016/j.ejmg.2020.104031. Epub 2020 Aug 18.
Eur J Med Genet. 2020.
PMID: 32818658
Free PMC article.
Progressive hereditary spastic paraplegia caused by a homozygous KY mutation.
Yogev Y, Perez Y, Noyman I, Madegem AA, Flusser H, Shorer Z, Cohen E, Kachko L, Michaelovsky A, Birk R, Koifman A, Drabkin M, Wormser O, Halperin D, Kadir R, Birk OS.
Yogev Y, et al.
Eur J Hum Genet. 2017 Aug;25(8):966-972. doi: 10.1038/ejhg.2017.85. Epub 2017 May 10.
Eur J Hum Genet. 2017.
PMID: 28488683
Free PMC article.
Item in Clipboard
Human gingiva transcriptome during wound healing.
Wang Y, Tatakis DN.
Wang Y, et al.
J Clin Periodontol. 2017 Apr;44(4):394-402. doi: 10.1111/jcpe.12669. Epub 2017 Feb 11.
J Clin Periodontol. 2017.
PMID: 28005267
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A new early-onset neuromuscular disorder associated with kyphoscoliosis peptidase (KY) deficiency.
Hedberg-Oldfors C, Darin N, Olsson Engman M, Orfanos Z, Thomsen C, van der Ven PF, Oldfors A.
Hedberg-Oldfors C, et al.
Eur J Hum Genet. 2016 Dec;24(12):1771-1777. doi: 10.1038/ejhg.2016.98. Epub 2016 Aug 3.
Eur J Hum Genet. 2016.
PMID: 27485408
Free PMC article.
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Kyphoscoliosis peptidase (KY) mutation causes a novel congenital myopathy with core targetoid defects.
Straussberg R, Schottmann G, Sadeh M, Gill E, Seifert F, Halevy A, Qassem K, Rendu J, van der Ven PF, Stenzel W, Schuelke M.
Straussberg R, et al.
Acta Neuropathol. 2016 Sep;132(3):475-8. doi: 10.1007/s00401-016-1602-9. Epub 2016 Aug 2.
Acta Neuropathol. 2016.
PMID: 27484770
No abstract available.
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Filamin C interacts with the muscular dystrophy KY protein and is abnormally distributed in mouse KY deficient muscle fibres.
Beatham J, Romero R, Townsend SK, Hacker T, van der Ven PF, Blanco G.
Beatham J, et al.
Hum Mol Genet. 2004 Nov 15;13(22):2863-74. doi: 10.1093/hmg/ddh308. Epub 2004 Sep 22.
Hum Mol Genet. 2004.
PMID: 15385448
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