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Table representation of search results timeline featuring number of search results per year.
Year | Number of Results |
---|---|
1998 | 2 |
1999 | 1 |
2014 | 2 |
2015 | 1 |
2019 | 1 |
2020 | 1 |
2024 | 0 |
PubMed (cited) for id: 605754
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Page 1
Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature.
J Inherit Metab Dis. 2020 Nov;43(6):1321-1332. doi: 10.1002/jimd.12278. Epub 2020 Aug 3.
J Inherit Metab Dis. 2020.
PMID: 32588908
Free PMC article.
Review.
PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype.
Starr LJ, Spranger JW, Rao VK, Lutz R, Yetman AT.
Starr LJ, et al.
Am J Med Genet A. 2019 Jul;179(7):1270-1275. doi: 10.1002/ajmg.a.61185. Epub 2019 May 30.
Am J Med Genet A. 2019.
PMID: 31148362
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Accelerating novel candidate gene discovery in neurogenetic disorders via whole-exome sequencing of prescreened multiplex consanguineous families.
Alazami AM, Patel N, Shamseldin HE, Anazi S, Al-Dosari MS, Alzahrani F, Hijazi H, Alshammari M, Aldahmesh MA, Salih MA, Faqeih E, Alhashem A, Bashiri FA, Al-Owain M, Kentab AY, Sogaty S, Al Tala S, Temsah MH, Tulbah M, Aljelaify RF, Alshahwan SA, Seidahmed MZ, Alhadid AA, Aldhalaan H, AlQallaf F, Kurdi W, Alfadhel M, Babay Z, Alsogheer M, Kaya N, Al-Hassnan ZN, Abdel-Salam GM, Al-Sannaa N, Al Mutairi F, El Khashab HY, Bohlega S, Jia X, Nguyen HC, Hammami R, Adly N, Mohamed JY, Abdulwahab F, Ibrahim N, Naim EA, Al-Younes B, Meyer BF, Hashem M, Shaheen R, Xiong Y, Abouelhoda M, Aldeeri AA, Monies DM, Alkuraya FS.
Alazami AM, et al.
Cell Rep. 2015 Jan 13;10(2):148-61. doi: 10.1016/j.celrep.2014.12.015. Epub 2014 Dec 31.
Cell Rep. 2015.
PMID: 25558065
Free article.
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Clinical whole-genome sequencing in severe early-onset epilepsy reveals new genes and improves molecular diagnosis.
Martin HC, Kim GE, Pagnamenta AT, Murakami Y, Carvill GL, Meyer E, Copley RR, Rimmer A, Barcia G, Fleming MR, Kronengold J, Brown MR, Hudspith KA, Broxholme J, Kanapin A, Cazier JB, Kinoshita T, Nabbout R; WGS500 Consortium; Bentley D, McVean G, Heavin S, Zaiwalla Z, McShane T, Mefford HC, Shears D, Stewart H, Kurian MA, Scheffer IE, Blair E, Donnelly P, Kaczmarek LK, Taylor JC.
Martin HC, et al.
Hum Mol Genet. 2014 Jun 15;23(12):3200-11. doi: 10.1093/hmg/ddu030. Epub 2014 Jan 25.
Hum Mol Genet. 2014.
PMID: 24463883
Free PMC article.
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GPI1 stabilizes an enzyme essential in the first step of glycosylphosphatidylinositol biosynthesis.
Hong Y, Ohishi K, Watanabe R, Endo Y, Maeda Y, Kinoshita T.
Hong Y, et al.
J Biol Chem. 1999 Jun 25;274(26):18582-8. doi: 10.1074/jbc.274.26.18582.
J Biol Chem. 1999.
PMID: 10373468
Free article.
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Human and mouse Gpi1p homologues restore glycosylphosphatidylinositol membrane anchor biosynthesis in yeast mutants.
Tiede A, Schubert J, Nischan C, Jensen I, Westfall B, Taron CH, Orlean P, Schmidt RE.
Tiede A, et al.
Biochem J. 1998 Sep 15;334 ( Pt 3)(Pt 3):609-16. doi: 10.1042/bj3340609.
Biochem J. 1998.
PMID: 9729469
Free PMC article.
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The first step of glycosylphosphatidylinositol biosynthesis is mediated by a complex of PIG-A, PIG-H, PIG-C and GPI1.
Watanabe R, Inoue N, Westfall B, Taron CH, Orlean P, Takeda J, Kinoshita T.
Watanabe R, et al.
EMBO J. 1998 Feb 16;17(4):877-85. doi: 10.1093/emboj/17.4.877.
EMBO J. 1998.
PMID: 9463366
Free PMC article.
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