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Molecular genetic and mitochondrial metabolic analyses confirm the suspected mitochondrial etiology in a pediatric patient with an atypical form of alternating hemiplegia of childhood.
Gropman A, Uittenbogaard M, Brantner CA, Wang Y, Wong LJ, Chiaramello A. Gropman A, et al. Among authors: wong lj. Mol Genet Metab Rep. 2020 May 28;24:100609. doi: 10.1016/j.ymgmr.2020.100609. eCollection 2020 Sep. Mol Genet Metab Rep. 2020. PMID: 32489883 Free PMC article.
The m.11778 A > G variant associated with the coexistence of Leber's hereditary optic neuropathy and multiple sclerosis-like illness dysregulates the metabolic interplay between mitochondrial oxidative phosphorylation and glycolysis.
Uittenbogaard M, Brantner CA, Fang Z, Wong LJ, Gropman A, Chiaramello A. Uittenbogaard M, et al. Among authors: wong lj. Mitochondrion. 2019 May;46:187-194. doi: 10.1016/j.mito.2018.06.001. Epub 2018 Jun 8. Mitochondrion. 2019. PMID: 29890302 Free PMC article.
Clinical Utility of Rapid Exome Sequencing Combined With Mitochondrial DNA Sequencing in Critically Ill Pediatric Patients With Suspected Genetic Disorders.
Ouyang X, Zhang Y, Zhang L, Luo J, Zhang T, Hu H, Liu L, Zhong L, Zeng S, Xu P, Bai Z, Wong LJ, Wang J, Wang C, Wang B, Zhang VW. Ouyang X, et al. Among authors: wong lj. Front Genet. 2021 Aug 19;12:725259. doi: 10.3389/fgene.2021.725259. eCollection 2021. Front Genet. 2021. PMID: 34490048 Free PMC article.
The next generation of population-based spinal muscular atrophy carrier screening: comprehensive pan-ethnic SMN1 copy-number and sequence variant analysis by massively parallel sequencing.
Feng Y, Ge X, Meng L, Scull J, Li J, Tian X, Zhang T, Jin W, Cheng H, Wang X, Tokita M, Liu P, Mei H, Wang Y, Li F, Schmitt ES, Zhang WV, Muzny D, Wen S, Chen Z, Yang Y, Beaudet AL, Liu X, Eng CM, Xia F, Wong LJ, Zhang J. Feng Y, et al. Among authors: wong lj. Genet Med. 2017 Aug;19(8):936-944. doi: 10.1038/gim.2016.215. Epub 2017 Jan 26. Genet Med. 2017. PMID: 28125085 Free article.
372 results