Scaglia F - Search Results

1

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: scaglia f. 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

2

Mitochondrial DNA depletion associated with partial complex II and IV deficiencies and 3-methylglutaconic aciduria.

Scaglia F, Sutton VR, Bodamer OA, Vogel H, Shapira SK, Naviaux RK, Vladutiu GD. Scaglia F, et al. J Child Neurol. 2001 Feb;16(2):136-8. doi: 10.1177/088307380101600214. J Child Neurol. 2001. PMID: 11292221

3

Neonatal presentation of ventricular tachycardia and a Reye-like syndrome episode associated with disturbed mitochondrial energy metabolism.

Scaglia F, Scheuerle AE, Towbin JA, Armstrong DL, Sweetman L, Wong LJ. Scaglia F, et al. BMC Pediatr. 2002 Dec 30;2:12. doi: 10.1186/1471-2431-2-12. Epub 2002 Dec 30. BMC Pediatr. 2002. PMID: 12507404 Free PMC article.

4

Novel homoplasmic mutation in the mitochondrial tRNATyr gene associated with atypical mitochondrial cytopathy presenting with focal segmental glomerulosclerosis.

Scaglia F, Vogel H, Hawkins EP, Vladutiu GD, Liu LL, Wong LJ. Scaglia F, et al. Am J Med Genet A. 2003 Dec 1;123A(2):172-8. doi: 10.1002/ajmg.a.20315. Am J Med Genet A. 2003. PMID: 14598342

5

MNGIE with lack of skeletal muscle involvement and a novel TP splice site mutation.

Szigeti K, Wong LJ, Perng CL, Saifi GM, Eldin K, Adesina AM, Cass DL, Hirano M, Lupski JR, Scaglia F. Szigeti K, et al. Among authors: scaglia f. J Med Genet. 2004 Feb;41(2):125-9. doi: 10.1136/jmg.2003.013789. J Med Genet. 2004. PMID: 14757860 Free PMC article.

6

Effect of alternative pathway therapy on branched chain amino acid metabolism in urea cycle disorder patients.

Scaglia F, Carter S, O'Brien WE, Lee B. Scaglia F, et al. Mol Genet Metab. 2004 Apr;81 Suppl 1:S79-85. doi: 10.1016/j.ymgme.2003.11.017. Mol Genet Metab. 2004. PMID: 15050979

7

Activation of cardiac Cdk9 represses PGC-1 and confers a predisposition to heart failure.

Sano M, Wang SC, Shirai M, Scaglia F, Xie M, Sakai S, Tanaka T, Kulkarni PA, Barger PM, Youker KA, Taffet GE, Hamamori Y, Michael LH, Craigen WJ, Schneider MD. Sano M, et al. Among authors: scaglia f. EMBO J. 2004 Sep 1;23(17):3559-69. doi: 10.1038/sj.emboj.7600351. Epub 2004 Aug 5. EMBO J. 2004. PMID: 15297879 Free PMC article.

8

Clinical spectrum, morbidity, and mortality in 113 pediatric patients with mitochondrial disease.

Scaglia F, Towbin JA, Craigen WJ, Belmont JW, Smith EO, Neish SR, Ware SM, Hunter JV, Fernbach SD, Vladutiu GD, Wong LJ, Vogel H. Scaglia F, et al. Pediatrics. 2004 Oct;114(4):925-31. doi: 10.1542/peds.2004-0718. Pediatrics. 2004. PMID: 15466086

9

Isolated mitochondrial myopathy associated with muscle coenzyme Q10 deficiency.

Lalani SR, Vladutiu GD, Plunkett K, Lotze TE, Adesina AM, Scaglia F. Lalani SR, et al. Among authors: scaglia f. Arch Neurol. 2005 Feb;62(2):317-20. doi: 10.1001/archneur.62.2.317. Arch Neurol. 2005. PMID: 15710863

10

Predominant cerebellar volume loss as a neuroradiologic feature of pediatric respiratory chain defects.

Scaglia F, Wong LJ, Vladutiu GD, Hunter JV. Scaglia F, et al. AJNR Am J Neuroradiol. 2005 Aug;26(7):1675-80. AJNR Am J Neuroradiol. 2005. PMID: 16091512 Free PMC article.

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