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Expanding the clinical and metabolic phenotype of DPM2 deficient congenital disorders of glycosylation.
Radenkovic S, Fitzpatrick-Schmidt T, Byeon SK, Madugundu AK, Saraswat M, Lichty A, Wong SYW, McGee S, Kubiak K, Ligezka A, Ranatunga W, Zhang Y, Wood T, Friez MJ, Clarkson K, Pandey A, Jones JR, Morava E. Radenkovic S, et al. Among authors: ranatunga w. Mol Genet Metab. 2021 Jan;132(1):27-37. doi: 10.1016/j.ymgme.2020.10.007. Epub 2020 Oct 17. Mol Genet Metab. 2021. PMID: 33129689 Free PMC article.
Sorbitol Is a Severity Biomarker for PMM2-CDG with Therapeutic Implications.
Ligezka AN, Radenkovic S, Saraswat M, Garapati K, Ranatunga W, Krzysciak W, Yanaihara H, Preston G, Brucker W, McGovern RM, Reid JM, Cassiman D, Muthusamy K, Johnsen C, Mercimek-Andrews S, Larson A, Lam C, Edmondson AC, Ghesquière B, Witters P, Raymond K, Oglesbee D, Pandey A, Perlstein EO, Kozicz T, Morava E. Ligezka AN, et al. Among authors: ranatunga w. Ann Neurol. 2021 Dec;90(6):887-900. doi: 10.1002/ana.26245. Epub 2021 Oct 26. Ann Neurol. 2021. PMID: 34652821 Free PMC article.
Active site variants in STT3A cause a dominant type I congenital disorder of glycosylation with neuromusculoskeletal findings.
Wilson MP, Garanto A, Pinto E Vairo F, Ng BG, Ranatunga WK, Ventouratou M, Baerenfaenger M, Huijben K, Thiel C, Ashikov A, Keldermans L, Souche E, Vuillaumier-Barrot S, Dupré T, Michelakakis H, Fiumara A, Pitt J, White SM, Lim SC, Gallacher L, Peters H, Rymen D, Witters P, Ribes A, Morales-Romero B, Rodríguez-Palmero A, Ballhausen D, de Lonlay P, Barone R, Janssen MCH, Jaeken J, Freeze HH, Matthijs G, Morava E, Lefeber DJ. Wilson MP, et al. Among authors: ranatunga wk. Am J Hum Genet. 2021 Nov 4;108(11):2130-2144. doi: 10.1016/j.ajhg.2021.09.012. Epub 2021 Oct 14. Am J Hum Genet. 2021. PMID: 34653363 Free PMC article.
TRAPPC9-CDG: A novel congenital disorder of glycosylation with dysmorphic features and intellectual disability.
Radenkovic S, Martinelli D, Zhang Y, Preston GJ, Maiorana A, Terracciano A, Dentici ML, Pisaneschi E, Novelli A, Ranatunga W, Ligezka AN, Ghesquière B, Deyle DR, Kozicz T, Pinto E Vairo F, Witters P, Morava E. Radenkovic S, et al. Among authors: ranatunga w. Genet Med. 2022 Apr;24(4):894-904. doi: 10.1016/j.gim.2021.12.012. Epub 2022 Jan 15. Genet Med. 2022. PMID: 35042660 Free article.
Could distal variants in ALG13 lead to atypical clinical presentation?
Accogli A, Radenkovic S, Ranatunga W, Ligezka AN, Rivière JB, Morava E, Trakadis Y. Accogli A, et al. Among authors: ranatunga w. Eur J Med Genet. 2022 Apr;65(4):104473. doi: 10.1016/j.ejmg.2022.104473. Epub 2022 Feb 28. Eur J Med Genet. 2022. PMID: 35240324
TRIT1 defect leads to a recognizable phenotype of myoclonic epilepsy, speech delay, strabismus, progressive spasticity, and normal lactate levels.
Muylle E, Jiang H, Johnsen C, Byeon SK, Ranatunga W, Garapati K, Zenka RM, Preston G, Pandey A, Kozicz T, Fang F, Morava E. Muylle E, et al. Among authors: ranatunga w. J Inherit Metab Dis. 2022 Nov;45(6):1039-1047. doi: 10.1002/jimd.12550. Epub 2022 Sep 21. J Inherit Metab Dis. 2022. PMID: 36047296 Free PMC article. Review.
Interplay of Impaired Cellular Bioenergetics and Autophagy in PMM2-CDG.
Ligezka AN, Budhraja R, Nishiyama Y, Fiesel FC, Preston G, Edmondson A, Ranatunga W, Van Hove JLK, Watzlawik JO, Springer W, Pandey A, Morava E, Kozicz T. Ligezka AN, et al. Among authors: ranatunga w. Genes (Basel). 2023 Aug 4;14(8):1585. doi: 10.3390/genes14081585. Genes (Basel). 2023. PMID: 37628636 Free PMC article.
23 results