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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 GP, Lamperti C, Filosto M, Zara F, Minetti C. Bruno C, et al. Among authors: toscano a. Hum Mutat. 2006 Jul;27(7):718. doi: 10.1002/humu.9434. Hum Mutat. 2006. PMID: 16786513
Muscle phosphoglycerate mutase deficiency revisited.
Naini A, Toscano A, Musumeci O, Vissing J, Akman HO, DiMauro S. Naini A, et al. Among authors: toscano a. Arch Neurol. 2009 Mar;66(3):394-8. doi: 10.1001/archneurol.2008.584. Arch Neurol. 2009. PMID: 19273759
Changes in skeletal muscle qualities during enzyme replacement therapy in late-onset type II glycogenosis: temporal and spatial pattern of mass vs. strength response.
Ravaglia S, Pichiecchio A, Ponzio M, Danesino C, Saeidi Garaghani K, Poloni GU, Toscano A, Moglia A, Carlucci A, Bini P, Ceroni M, Bastianello S. Ravaglia S, et al. Among authors: toscano a. J Inherit Metab Dis. 2010 Dec;33(6):737-45. doi: 10.1007/s10545-010-9204-5. Epub 2010 Sep 16. J Inherit Metab Dis. 2010. PMID: 20844963 Clinical Trial.
654 results