Authors: DiMauro, S Andreu, AL Musumeci, O Bonilla, E

Citation: S. Dimauro et al., Diseases of oxidative phosphorylation due to mtDNA mutations, SEM NEUROL, 21(3), 2001, pp. 251-260

Authors: Musumeci, O Naini, A Slonim, AE Skavin, N Hadjigeorgiou, GL Krawiecki, N Weissman, BM Tsao, CY Mendell, JR Shanske, S De Vivo, DC Hirano, M DiMauro, S

Citation: O. Musumeci et al., Familial cerebellar ataxia with muscle coenzyme Q10 deficiency, NEUROLOGY, 56(7), 2001, pp. 849-855

Authors: Raben, N Danon, M Lu, N Lee, E Shliselfeld, L Skurat, AV Roach, PJ Lawrence, JC Musumeci, O Shanske, S DiMauro, S Plotz, P

Citation: N. Raben et al., Surprises of genetic engineering - A possible model of polyglucosan body disease, NEUROLOGY, 56(12), 2001, pp. 1739-1745

Authors: Fernandez, R Navarro, C Andreu, AL Bruno, C Shanske, S Gamez, J Teijeira, S Hernandez, I Teijeiro, A Fernandez, JM Musumeci, O DiMauro, S

Citation: R. Fernandez et al., A novel missense mutation (W797R) in the myophosphorylase gene in Spanish patients with McArdle disease, ARCH NEUROL, 57(2), 2000, pp. 217-219

Authors: Musumeci, O Andreu, AL Shanske, S Bresolin, N Comi, GP Rothstein, R Schon, EA DiMauro, S

Citation: O. Musumeci et al., Intragenic inversion of mtDNA: A new type of pathogenic mutation in a patient with mitochondrial myopathy, AM J HU GEN, 66(6), 2000, pp. 1900-1904

Authors: Shtilbans, A El-Schahawi, M Malkin, E Shanske, S Musumeci, O DiMauro, S

Citation: A. Shtilbans et al., A novel mutation in the mitochondrial DNA transfer ribonucleic acid(Asp) gene in a child with myoclonic epilepsy and psychomotor regression, J CHILD NEU, 14(9), 1999, pp. 610-613