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Variant non ketotic hyperglycinemia is caused by mutations in LIAS, BOLA3 and the novel gene GLRX5.
Baker PR 2nd, Friederich MW, Swanson MA, Shaikh T, Bhattacharya K, Scharer GH, Aicher J, Creadon-Swindell G, Geiger E, MacLean KN, Lee WT, Deshpande C, Freckmann ML, Shih LY, Wasserstein M, Rasmussen MB, Lund AM, Procopis P, Cameron JM, Robinson BH, Brown GK, Brown RM, Compton AG, Dieckmann CL, Collard R, Coughlin CR 2nd, Spector E, Wempe MF, Van Hove JL. Baker PR 2nd, et al. Among authors: procopis p. Brain. 2014 Feb;137(Pt 2):366-79. doi: 10.1093/brain/awt328. Epub 2013 Dec 11. Brain. 2014. PMID: 24334290 Free PMC article.
A founder mutation in PET100 causes isolated complex IV deficiency in Lebanese individuals with Leigh syndrome.
Lim SC, Smith KR, Stroud DA, Compton AG, Tucker EJ, Dasvarma A, Gandolfo LC, Marum JE, McKenzie M, Peters HL, Mowat D, Procopis PG, Wilcken B, Christodoulou J, Brown GK, Ryan MT, Bahlo M, Thorburn DR. Lim SC, et al. Am J Hum Genet. 2014 Feb 6;94(2):209-22. doi: 10.1016/j.ajhg.2013.12.015. Epub 2014 Jan 23. Am J Hum Genet. 2014. PMID: 24462369 Free PMC article.
NAD(P)HX dehydratase (NAXD) deficiency: a novel neurodegenerative disorder exacerbated by febrile illnesses.
Van Bergen NJ, Guo Y, Rankin J, Paczia N, Becker-Kettern J, Kremer LS, Pyle A, Conrotte JF, Ellaway C, Procopis P, Prelog K, Homfray T, Baptista J, Baple E, Wakeling M, Massey S, Kay DP, Shukla A, Girisha KM, Lewis LES, Santra S, Power R, Daubeney P, Montoya J, Ruiz-Pesini E, Kovacs-Nagy R, Pritsch M, Ahting U, Thorburn DR, Prokisch H, Taylor RW, Christodoulou J, Linster CL, Ellard S, Hakonarson H. Van Bergen NJ, et al. Among authors: procopis p. Brain. 2019 Jan 1;142(1):50-58. doi: 10.1093/brain/awy310. Brain. 2019. PMID: 30576410
Yield of comparative genomic hybridization microarray in pediatric neurology practice.
Misra S, Peters G, Barnes E, Ardern-Holmes S, Webster R, Troedson C, Mohammad SS, Gill D, Menezes M, Gupta S, Procopis P, Antony J, Kurian MA, Dale RC. Misra S, et al. Among authors: procopis p. Neurol Genet. 2019 Oct 23;5(6):e367. doi: 10.1212/NXG.0000000000000367. eCollection 2019 Dec. Neurol Genet. 2019. PMID: 31872051 Free PMC article.
65 results