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Page 1
Novel donor splice site mutations of AGL gene in glycogen storage disease type IIIa.
Hadjigeorgiou GM, Comi GP, Bordoni A, Shen J, Chen YT, Salani S, Toscano A, Fortunato F, Lucchiari S, Bresolin N, Rodolico C, Piscaglia MG, Franceschina L, Papadimitriou A, Scarlato G. Hadjigeorgiou GM, et al. Among authors: toscano a. J Inherit Metab Dis. 1999 Aug;22(6):762-3. doi: 10.1023/a:1005572906807. J Inherit Metab Dis. 1999. PMID: 10472540 No abstract available.
Retrospective study of a large population of patients affected with mitochondrial disorders: clinical, morphological and molecular genetic evaluation.
Sciacco M, Prelle A, Comi GP, Napoli L, Battistel A, Bresolin N, Tancredi L, Lamperti C, Bordoni A, Fagiolari G, Ciscato P, Chiveri L, Perini MP, Fortunato F, Adobbati L, Messina S, Toscano A, Martinelli-Boneschi F, Papadimitriou A, Scarlato G, Moggio M. Sciacco M, et al. Among authors: toscano a. J Neurol. 2001 Sep;248(9):778-88. doi: 10.1007/s004150170094. J Neurol. 2001. PMID: 11596783
Adult polyglucosan body disease in a patient originally diagnosed with Fabry's disease.
Sagnelli A, Savoiardo M, Marchesi C, Morandi L, Mora M, Morbin M, Farina L, Mazzeo A, Toscano A, Pagliarani S, Lucchiari S, Comi GP, Salsano E, Pareyson D. Sagnelli A, et al. Among authors: toscano a. Neuromuscul Disord. 2014 Mar;24(3):272-6. doi: 10.1016/j.nmd.2013.11.006. Epub 2013 Nov 19. Neuromuscul Disord. 2014. PMID: 24380807
Effects of short-to-long term enzyme replacement therapy (ERT) on skeletal muscle tissue in late onset Pompe disease (LOPD).
Ripolone M, Violano R, Ronchi D, Mondello S, Nascimbeni A, Colombo I, Fagiolari G, Bordoni A, Fortunato F, Lucchini V, Saredi S, Filosto M, Musumeci O, Tonin P, Mongini T, Previtali S, Morandi L, Angelini C, Mora M, Sandri M, Sciacco M, Toscano A, Comi GP, Moggio M. Ripolone M, et al. Among authors: toscano a. Neuropathol Appl Neurobiol. 2018 Aug;44(5):449-462. doi: 10.1111/nan.12414. Epub 2017 Jul 4. Neuropathol Appl Neurobiol. 2018. PMID: 28574618 Free article.
Muscle mitochondria investigation in myotonic dystrophy.
Vita G, Toscano A, Prelle A, Bordoni A, Checcarelli N, Bresolin N, Baradello A, Messina C. Vita G, et al. Among authors: toscano a. Eur Neurol. 1993;33(6):423-7. doi: 10.1159/000116987. Eur Neurol. 1993. PMID: 8307063
700 results