The broad objective of this interdisciplinary project is to elucidate the pathogenesis of human neuromuscular diseases. The Center comprises 17 independent investigators in 13 laboratories. In many projects basic scientists and clinical investigators work together. Basic research includes the dynamics of muscle activation and contraction, calcium regulation in muscle, physiology of human muscle fibers, ultrastructure of muscle, development of muscle, muscle culture immunocytochemistry, glycoconjugates, structure and function of acetylcholine receptor. Clinical investigation includes study of muscular dystrophy, myasthenia gravis, malignant hyperthermia, disorders of glycogen and lipid metabolism, hexosaminidase deficiency, and peripheral neuropathy.
| Akman, H Orhan; Aykit, Yavuz; Amuk, Ozge Ceren et al. (2016) Late-onset polyglucosan body myopathy in five patients with a homozygous mutation in GYG1. Neuromuscul Disord 26:16-20 |
| Quinzii, Catarina M; Hirano, Michio; DiMauro, Salvatore (2014) Mutant COQ2 in multiple-system atrophy. N Engl J Med 371:81-2 |
| Cámara, Yolanda; González-Vioque, Emiliano; Scarpelli, Mauro et al. (2014) Administration of deoxyribonucleosides or inhibition of their catabolism as a pharmacological approach for mitochondrial DNA depletion syndrome. Hum Mol Genet 23:2459-67 |
| Li, Wei; Gigante, Alba; Perez-Perez, Maria-Jesus et al. (2014) Thymidine phosphorylase participates in platelet signaling and promotes thrombosis. Circ Res 115:997-1006 |
| Vara, Dina S; Campanella, Michelangelo; Canobbio, Ilaria et al. (2013) Autocrine amplification of integrin ?IIb?3 activation and platelet adhesive responses by deoxyribose-1-phosphate. Thromb Haemost 109:1108-19 |
| Pfeffer, Gerald; Horvath, Rita; Klopstock, Thomas et al. (2013) New treatments for mitochondrial disease-no time to drop our standards. Nat Rev Neurol 9:474-81 |
| Martí, Ramon; López, Luis C; Hirano, Michio (2012) Assessment of thymidine phosphorylase function: measurement of plasma thymidine (and deoxyuridine) and thymidine phosphorylase activity. Methods Mol Biol 837:121-33 |
| Martí, Ramon; Dorado, Beatriz; Hirano, Michio (2012) Measurement of mitochondrial dNTP pools. Methods Mol Biol 837:135-48 |
| Hirano, Michio; Quinzii, Catarina M; Mitsumoto, Hiroshi et al. (2011) Senataxin mutations and amyotrophic lateral sclerosis. Amyotroph Lateral Scler 12:223-7 |
| Douglas, Ganka V; Wiszniewska, Joanna; Lipson, Mark H et al. (2011) Detection of uniparental isodisomy in autosomal recessive mitochondrial DNA depletion syndrome by high-density SNP array analysis. J Hum Genet 56:834-9 |
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