RYR1 and CACNA1S genetic variants identified with statin-associated muscle symptoms von Isackson, Paul J, Wang, Jianxin, Zia, Mohammad, Spurgeon, Paul, Levesque, Adrian, Bard, Jonathan, James, Smitha, Nowak, Norma, Lee, Tae Keun, Vladutiu, Georgirene D

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Clinical Spectrum, Morbidity, and Mortality in 113 Pediatric Patients With Mitochondrial Disease von Scaglia, Fernando, Towbin, Jeffrey A, Craigen, William J, Belmont, John W, Smith, E. O'Brian, Neish, Stephen R, Ware, Stephanie M, Hunter, Jill V, Fernbach, Susan D, Vladutiu, Georgirene D, Wong, Lee-Jun C, Vogel, Hannes

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Adverse effects of statin therapy: perception vs. the evidence - focus on glucose homeostasis, cognitive, renal and hepatic function, haemorrhagic stroke and cataract von Mach, F, Ray, KK, Wiklund, O, Corsini, A, Catapano, AL, Bruckert, E, De Backer, G, Hegele, RA, Hovingh, GK, Jacobson, TA, Krauss, RM, Laufs, U, Leiter, LA, März, W, Nordestgaard, BG, Raal, FJ, Roden, M, Santos, RD, Stein, EA, Stroes, ES, Thompson, PD, Tokgözoglu, L, Vladutiu, GD, Gencer, B, Stock, JK, Ginsberg, HN, Chapman, MJ, European Atherosclerosis Society Consensus Panel

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Predominant Cerebellar Volume Loss as a Neuroradiologic Feature of Pediatric Respiratory Chain Defects von Scaglia, Fernando, Wong, Lee-Jun C, Vladutiu, Georgirene D, Hunter, Jill V

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Synergistic Heterozygosity: Disease Resulting from Multiple Partial Defects in One or More Metabolic Pathways von Vockley, Jerry, Rinaldo, Piero, Bennett, Michael J., Matern, Dietrich, Vladutiu, Georgirene D.

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Statin-associated muscle symptoms: impact on statin therapy - European Atherosclerosis Society Consensus Panel Statement on Assessment, Aetiology and Management von Stroes, ES, Thompson, PD, Corsini, A, Vladutiu, GD, Raal, FJ, Ray, KK, Roden, M, Stein, E, Tokgozo lu, L, Nordestgaard, BG, Bruckert, E, De Backer, G, Krauss, RM, Laufs, U, Santos, RD, Hegele, RA, Hovingh, GK, Leiter, LA, Mach, F, Marz, W, Newman, CB, Wiklund, O, Jacobson, TA, Catapano, AL, Chapman, MJ, Ginsberg, HN

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Association of medically unexplained fatigue with ACE insertion/deletion polymorphism in gulf war veterans von Vladutiu, Georgirene D., Natelson, Benjamin H.

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Heterozygosity: An Expanding Role in Proteomics von Vladutiu, Georgirene D.

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Laboratory diagnosis of metabolic myopathies von Vladutiu, Georgirene D.

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Compensatory amplification of mtDNA in a patient with a novel deletion/duplication and high mutant load von Wong, L-J C, Perng, C-L, Hsu, C-H, Bai, R-K, Schelley, S, Vladutiu, G D, Vogel, H, Enns, G M

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Novel mutations associated with carnitine palmitoyltransferase II deficiency von Taggart, R. Thomas, Smail, David, Apolito, Christopher, Vladutiu, Georgirene D.

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Simvastatin-Fluconazole Causing Rhabdomyolysis von Shaukat, Aasma, Benekli, Mustafa, Vladutiu, Georgirene D, Slack, James L, Wetzler, Meir, Baer, Maria R

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A novel mutation in the PYGM gene in a family with pseudo-dominant transmission of McArdle disease von Isackson, Paul J., Tarnopolsky, Mark, Vladutiu, Georgirene D.

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Complex phenotypes in metabolic muscle diseases von Vladutiu, Georgirene D.

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Myoadenylate deaminase deficiency caused by alternative splicing due to a novel intronic mutation in the AMPD1 gene von Isackson, Paul J., Bujnicki, Heather, Harding, Cary O., Vladutiu, Georgirene D.

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Lethal neonatal and severe late infantile forms of carnitine palmitoyltransferase II deficiency associated with compound heterozygosity for different protein truncation mutations von Vladutiu, Georgirene D., Quackenbush, Elizabeth J., Hainline, Bryan E., Albers, Simone, Smail, David S., Bennett, Michael J.

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Phenotypic variability among first-degree relatives with carnitine palmitoyltransferase II deficiency von Vladutiu, Georgirene D., Bennett, Michael J., Fisher, Nadine M., Smail, David, Boriack, Richard, Leddy, John, Pendergast, David R.

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Biochemical and molecular correlations in carnitine palmitoyltransferase II deficiency von Vladutiu, Georgirene D.

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A Variable Myopathy Associated with Heterozygosity for the R503C Mutation in the Carnitine Palmitoyltransferase II Gene von Vladutiu, Georgirene D., Bennett, Michael J., Smail, David, Wong, Lee-Jun, Taggart, R.Thomas, Lindsley, Herbert B.

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Succinate dehydrogenase deficiency: A qualitative and quantitative assessment in muscle von Vladutiu, Georgirene D, Heffner, Reid R

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