1. Starr, Lois J, Spranger, Jürgen W, Rao, Vamshi K, Lutz, Richard, Yetman, Anji T. 2019. PIGQ glycosylphosphatidylinositol-anchored protein deficiency: Characterizing the phenotype. In American journal of medical genetics. Part A, 179, 1270-1275. doi:10.1002/ajmg.a.61185. https://pubmed.ncbi.nlm.nih.gov/31148362/
2. Zanni, G, D'Abrusco, F, Nicita, F, Valente, E M, Bertini, E. 2021. PIGQ-Related Glycophosphatidylinositol Deficiency Associated with Nonprogressive Congenital Ataxia. In Cerebellum (London, England), 21, 525-530. doi:10.1007/s12311-021-01288-x. https://pubmed.ncbi.nlm.nih.gov/34089469/
3. Johnstone, Devon L, Nguyen, Thi Tuyet Mai, Zambonin, Jessica, Boycott, Kym M, Campeau, Philippe M. 2020. Early infantile epileptic encephalopathy due to biallelic pathogenic variants in PIGQ: Report of seven new subjects and review of the literature. In Journal of inherited metabolic disease, 43, 1321-1332. doi:10.1002/jimd.12278. https://pubmed.ncbi.nlm.nih.gov/32588908/
4. Wang, Xingbin, Lopez, Oscar L, Sweet, Robert A, Demirci, F Yesim, Kamboh, M Ilyas. . Genetic determinants of disease progression in Alzheimer's disease. In Journal of Alzheimer's disease : JAD, 43, 649-55. doi:10.3233/JAD-140729. https://pubmed.ncbi.nlm.nih.gov/25114068/
5. Shekhar, Bipin Raj, Rupani, Karishma, Parkar, Shubhangi Raghunath, Gawde, Harshavardhan, Das, Dhanjit Kumar. 2023. Identifying novel risk conferring genes involved in glycosylation processes with familial schizophrenia in an Indian cohort: Prediction of ADAMTS9 gene variant for structural stability. In Gene, 872, 147443. doi:10.1016/j.gene.2023.147443. https://pubmed.ncbi.nlm.nih.gov/37105505/
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