Wang J - Search Results

1

Early Onset and Severe Clinical Course Associated with the m.5540G>A Mutation in MT-TW.

Granadillo JL, Moss T, Lewis RA, Austin EG, Kelfer H, Wang J, Wong LJ, Scaglia F. Granadillo JL, et al. Among authors: wang j. Mol Genet Metab Rep. 2014;1:61-65. doi: 10.1016/j.ymgmr.2013.12.001. Mol Genet Metab Rep. 2014. PMID: 25302159 Free PMC article.

2

Early-onset severe neuromuscular phenotype associated with compound heterozygosity for OPA1 mutations.

Schaaf CP, Blazo M, Lewis RA, Tonini RE, Takei H, Wang J, Wong LJ, Scaglia F. Schaaf CP, et al. Among authors: wang j. Mol Genet Metab. 2011 Aug;103(4):383-7. doi: 10.1016/j.ymgme.2011.04.018. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21636302

3

Expanded molecular features of carnitine acyl-carnitine translocase (CACT) deficiency by comprehensive molecular analysis.

Wang GL, Wang J, Douglas G, Browning M, Hahn S, Ganesh J, Cox S, Aleck K, Schmitt ES, Zhang W, Wong LJ. Wang GL, et al. Among authors: wang j. Mol Genet Metab. 2011 Aug;103(4):349-57. doi: 10.1016/j.ymgme.2011.05.001. Epub 2011 May 7. Mol Genet Metab. 2011. PMID: 21605995

4

Molecular and clinical characterization of the myopathic form of mitochondrial DNA depletion syndrome caused by mutations in the thymidine kinase (TK2) gene.

Chanprasert S, Wang J, Weng SW, Enns GM, Boué DR, Wong BL, Mendell JR, Perry DA, Sahenk Z, Craigen WJ, Alcala FJ, Pascual JM, Melancon S, Zhang VW, Scaglia F, Wong LJ. Chanprasert S, et al. Among authors: wang j. Mol Genet Metab. 2013 Sep-Oct;110(1-2):153-61. doi: 10.1016/j.ymgme.2013.07.009. Epub 2013 Jul 17. Mol Genet Metab. 2013. PMID: 23932787

5

Mitochondrial myopathy, lactic acidosis, and sideroblastic anemia (MLASA) plus associated with a novel de novo mutation (m.8969G>A) in the mitochondrial encoded ATP6 gene.

Burrage LC, Tang S, Wang J, Donti TR, Walkiewicz M, Luchak JM, Chen LC, Schmitt ES, Niu Z, Erana R, Hunter JV, Graham BH, Wong LJ, Scaglia F. Burrage LC, et al. Among authors: wang j. Mol Genet Metab. 2014 Nov;113(3):207-12. doi: 10.1016/j.ymgme.2014.06.004. Epub 2014 Jun 30. Mol Genet Metab. 2014. PMID: 25037980 Free PMC article.

6

Milder clinical course of Type IV 3-methylglutaconic aciduria due to a novel mutation in TMEM70.

Shchelochkov OA, Li FY, Wang J, Zhan H, Towbin JA, Jefferies JL, Wong LJ, Scaglia F. Shchelochkov OA, et al. Among authors: wang j. Mol Genet Metab. 2010 Oct-Nov;101(2-3):282-5. doi: 10.1016/j.ymgme.2010.07.012. Epub 2010 Jul 24. Mol Genet Metab. 2010. PMID: 20728387

7

Molecular characterization of CPS1 deletions by array CGH.

Wang J, Shchelochkov OA, Zhan H, Li F, Chen LC, Brundage EK, Pursley AN, Schmitt ES, Häberle J, Wong LJ. Wang J, et al. Mol Genet Metab. 2011 Jan;102(1):103-6. doi: 10.1016/j.ymgme.2010.08.020. Epub 2010 Sep 19. Mol Genet Metab. 2011. PMID: 20855223 Free PMC article.

8

Deoxyguanosine kinase deficiency presenting as neonatal hemochromatosis.

Hanchard NA, Shchelochkov OA, Roy A, Wiszniewska J, Wang J, Popek EJ, Karpen S, Wong LJ, Scaglia F. Hanchard NA, et al. Among authors: wang j. Mol Genet Metab. 2011 Jul;103(3):262-7. doi: 10.1016/j.ymgme.2011.03.006. Epub 2011 Mar 11. Mol Genet Metab. 2011. PMID: 21478040

9

Utilization of targeted array comparative genomic hybridization, MitoMet, in prenatal diagnosis of metabolic disorders.

Landsverk ML, Wang J, Schmitt ES, Pursley AN, Wong LJ. Landsverk ML, et al. Among authors: wang j. Mol Genet Metab. 2011 Jun;103(2):148-52. doi: 10.1016/j.ymgme.2011.03.003. Epub 2011 Mar 10. Mol Genet Metab. 2011. PMID: 21482165

10

Mitochondrial DNA polymerase gamma mutations: an ever expanding molecular and clinical spectrum.

Tang S, Wang J, Lee NC, Milone M, Halberg MC, Schmitt ES, Craigen WJ, Zhang W, Wong LJ. Tang S, et al. Among authors: wang j. J Med Genet. 2011 Oct;48(10):669-81. doi: 10.1136/jmedgenet-2011-100222. Epub 2011 Aug 31. J Med Genet. 2011. PMID: 21880868

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