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Molecular defects in human carbamoy phosphate synthetase I: mutational spectrum, diagnostic and protein structure considerations.
Häberle J, Shchelochkov OA, Wang J, Katsonis P, Hall L, Reiss S, Eeds A, Willis A, Yadav M, Summar S; Urea Cycle Disorders Consortium; Lichtarge O, Rubio V, Wong LJ, Summar M. Häberle J, et al. Among authors: wong lj. Hum Mutat. 2011 Jun;32(6):579-89. doi: 10.1002/humu.21406. Epub 2011 May 5. Hum Mutat. 2011. PMID: 21120950 Free PMC article.
Novel (ovario) leukodystrophy related to AARS2 mutations.
Dallabona C, Diodato D, Kevelam SH, Haack TB, Wong LJ, Salomons GS, Baruffini E, Melchionda L, Mariotti C, Strom TM, Meitinger T, Prokisch H, Chapman K, Colley A, Rocha H, Ounap K, Schiffmann R, Salsano E, Savoiardo M, Hamilton EM, Abbink TE, Wolf NI, Ferrero I, Lamperti C, Zeviani M, Vanderver A, Ghezzi D, van der Knaap MS. Dallabona C, et al. Among authors: wong lj. Neurology. 2014 Jun 10;82(23):2063-71. doi: 10.1212/WNL.0000000000000497. Epub 2014 May 7. Neurology. 2014. PMID: 24808023 Free PMC article.
Mutations in FBXL4 cause mitochondrial encephalopathy and a disorder of mitochondrial DNA maintenance.
Bonnen PE, Yarham JW, Besse A, Wu P, Faqeih EA, Al-Asmari AM, Saleh MA, Eyaid W, Hadeel A, He L, Smith F, Yau S, Simcox EM, Miwa S, Donti T, Abu-Amero KK, Wong LJ, Craigen WJ, Graham BH, Scott KL, McFarland R, Taylor RW. Bonnen PE, et al. Among authors: wong lj. Am J Hum Genet. 2013 Sep 5;93(3):471-81. doi: 10.1016/j.ajhg.2013.07.017. Epub 2013 Aug 29. Am J Hum Genet. 2013. PMID: 23993193 Free PMC article.
Loss of Oxidation Resistance 1, OXR1, Is Associated with an Autosomal-Recessive Neurological Disease with Cerebellar Atrophy and Lysosomal Dysfunction.
Wang J, Rousseau J, Kim E, Ehresmann S, Cheng YT, Duraine L, Zuo Z, Park YJ, Li-Kroeger D, Bi W, Wong LJ, Rosenfeld J, Gleeson J, Faqeih E, Alkuraya FS, Wierenga KJ, Chen J, Afenjar A, Nava C, Doummar D, Keren B, Juusola J, Grompe M, Bellen HJ, Campeau PM. Wang J, et al. Among authors: wong lj. Am J Hum Genet. 2019 Dec 5;105(6):1237-1253. doi: 10.1016/j.ajhg.2019.11.002. Epub 2019 Nov 27. Am J Hum Genet. 2019. PMID: 31785787 Free PMC article.
372 results