Scaglia F - 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: scaglia f. 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

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.

3

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

4

Spinocerebellar ataxia type 2 (SCA2) presenting with ophthalmoplegia and developmental delay in infancy.

Moretti P, Blazo M, Garcia L, Armstrong D, Lewis RA, Roa B, Scaglia F. Moretti P, et al. Among authors: scaglia f. Am J Med Genet A. 2004 Feb 1;124A(4):392-6. doi: 10.1002/ajmg.a.20428. Am J Med Genet A. 2004. PMID: 14735588

5

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

6

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.

7

Molecular bases of hearing loss in multi-systemic mitochondrial cytopathy.

Scaglia F, Hsu CH, Kwon H, Bai RK, Perng CL, Chang HM, Dai P, Smith EO, Whiteman DA, Feigenbaum A, Gropman A, Wong LJ. Scaglia F, et al. Genet Med. 2006 Oct;8(10):641-52. doi: 10.1097/01.gim.0000237781.10594.d1. Genet Med. 2006. PMID: 17079881 Free article.

8

Human mitochondrial transfer RNAs: role of pathogenic mutation in disease.

Scaglia F, Wong LJ. Scaglia F, et al. Muscle Nerve. 2008 Feb;37(2):150-71. doi: 10.1002/mus.20917. Muscle Nerve. 2008. PMID: 17999409 Review.

9

Utility of oligonucleotide array-based comparative genomic hybridization for detection of target gene deletions.

Wong LJ, Dimmock D, Geraghty MT, Quan R, Lichter-Konecki U, Wang J, Brundage EK, Scaglia F, Chinault AC. Wong LJ, et al. Among authors: scaglia f. Clin Chem. 2008 Jul;54(7):1141-8. doi: 10.1373/clinchem.2008.103721. Epub 2008 May 16. Clin Chem. 2008. PMID: 18487280

10

GM1 gangliosidosis: review of clinical, molecular, and therapeutic aspects.

Brunetti-Pierri N, Scaglia F. Brunetti-Pierri N, et al. Among authors: scaglia f. Mol Genet Metab. 2008 Aug;94(4):391-396. doi: 10.1016/j.ymgme.2008.04.012. Epub 2008 Jun 3. Mol Genet Metab. 2008. PMID: 18524657 Review.

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