Claudio Bruno
Muscular and Neurodegenerative Disease Unit
Giannina Gaslini Institute
Genova
Italy
[email]@ospedale-gaslini.ge.it
Name/email consistency: high
- Lipid storage myopathies. Bruno, C., Dimauro, S. Curr. Opin. Neurol. (2008)
- Neuromuscular forms of glycogen branching enzyme deficiency. Bruno, C., Cassandrini, D., Assereto, S., Akman, H.O., Minetti, C., Di Mauro, S. Acta. Myol (2007)
- McArdle disease: the mutation spectrum of PYGM in a large Italian cohort. Bruno, C., Cassandrini, D., Martinuzzi, A., Toscano, A., Moggio, M., Morandi, L., Servidei, S., Mongini, T., Angelini, C., Musumeci, O., Comi, G.P., Lamperti, C., Filosto, M., Zara, F., Minetti, C. Hum. Mutat. (2006)
- Congenital myopathies. Bruno, C., Minetti, C. Curr. Neurol. Neurosci. Rep (2004)
- Clinical and molecular findings in patients with giant axonal neuropathy (GAN). Bruno, C., Bertini, E., Federico, A., Tonoli, E., Lispi, M.L., Cassandrini, D., Pedemonte, M., Santorelli, F.M., Filocamo, M., Dotti, M.T., Schenone, A., Malandrini, A., Minetti, C. Neurology (2004)
- Clinical and genetic heterogeneity of branching enzyme deficiency (glycogenosis type IV). Bruno, C., van Diggelen, O.P., Cassandrini, D., Gimpelev, M., Giuffrè, B., Donati, M.A., Introvini, P., Alegria, A., Assereto, S., Morandi, L., Mora, M., Tonoli, E., Mascelli, S., Traverso, M., Pasquini, E., Bado, M., Vilarinho, L., van Noort, G., Mosca, F., DiMauro, S., Zara, F., Minetti, C. Neurology (2004)
- Mitochondrial myopathy and respiratory failure associated with a new mutation in the mitochondrial transfer ribonucleic acid glutamic acid gene. Bruno, C., Sacco, O., Santorelli, F.M., Assereto, S., Tonoli, E., Bado, M., Rossi, G.A., Minetti, C. J. Child Neurol. (2003)
- Progressive exercise intolerance associated with a new muscle-restricted nonsense mutation (G142X) in the mitochondrial cytochrome b gene. Bruno, C., Santorelli, F.M., Assereto, S., Tonoli, E., Tessa, A., Traverso, M., Scapolan, S., Bado, M., Tedeschi, S., Minetti, C. Muscle. Nerve (2003)
- A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency. Bruno, C., Biancheri, R., Garavaglia, B., Biedi, C., Rossi, A., Lamba, L.D., Bado, M., Greco, M., Zeviani, M., Minetti, C. J. Child Neurol. (2002)
- Two new mutations in the myophosphorylase gene in Italian patients with McArdle's disease. Bruno, C., Lanzillo, R., Biedi, C., Iadicicco, L., Minetti, C., Santoro, L. Neuromuscul. Disord. (2002)
