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655 results

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Page 1
Phenotypic clustering of lamin A/C mutations in neuromuscular patients.
Benedetti S, Menditto I, Degano M, Rodolico C, Merlini L, D'Amico A, Palmucci L, Berardinelli A, Pegoraro E, Trevisan CP, Morandi L, Moroni I, Galluzzi G, Bertini E, Toscano A, Olivè M, Bonne G, Mari F, Caldara R, Fazio R, Mammì I, Carrera P, Toniolo D, Comi G, Quattrini A, Ferrari M, Previtali SC. Benedetti S, et al. Among authors: toscano a. Neurology. 2007 Sep 18;69(12):1285-92. doi: 10.1212/01.wnl.0000261254.87181.80. Epub 2007 Mar 21. Neurology. 2007. PMID: 17377071
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
Phenotype modulators in myophosphorylase deficiency.
Martinuzzi A, Sartori E, Fanin M, Nascimbeni A, Valente L, Angelini C, Siciliano G, Mongini T, Tonin P, Tomelleri G, Toscano A, Merlini L, Bindoff LA, Bertelli S. Martinuzzi A, et al. Among authors: toscano a. Ann Neurol. 2003 Apr;53(4):497-502. doi: 10.1002/ana.10499. Ann Neurol. 2003. PMID: 12666117
Juvenile limb-girdle myasthenia gravis.
Rodolico C, Pastura C, Sinicropi S, Girlanda P, Toscano A, Messina C, Vita G. Rodolico C, et al. Among authors: toscano a. Neuropediatrics. 2005 Dec;36(6):353-6. doi: 10.1055/s-2005-872879. Neuropediatrics. 2005. PMID: 16429374
655 results