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634 results

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Page 1
A mutation in the CASQ1 gene causes a vacuolar myopathy with accumulation of sarcoplasmic reticulum protein aggregates.
Rossi D, Vezzani B, Galli L, Paolini C, Toniolo L, Pierantozzi E, Spinozzi S, Barone V, Pegoraro E, Bello L, Cenacchi G, Vattemi G, Tomelleri G, Ricci G, Siciliano G, Protasi F, Reggiani C, Sorrentino V. Rossi D, et al. Among authors: siciliano g. Hum Mutat. 2014 Oct;35(10):1163-70. doi: 10.1002/humu.22631. Epub 2014 Sep 10. Hum Mutat. 2014. PMID: 25116801 Free PMC article.
Mitochondria and neurodegeneration.
Petrozzi L, Ricci G, Giglioli NJ, Siciliano G, Mancuso M. Petrozzi L, et al. Among authors: siciliano g. Biosci Rep. 2007 Jun;27(1-3):87-104. doi: 10.1007/s10540-007-9038-z. Biosci Rep. 2007. PMID: 17486441 Review.
Functional diagnostics in mitochondrial diseases.
Siciliano G, Volpi L, Piazza S, Ricci G, Mancuso M, Murri L. Siciliano G, et al. Biosci Rep. 2007 Jun;27(1-3):53-67. doi: 10.1007/s10540-007-9037-0. Biosci Rep. 2007. PMID: 17492503 Review.
Large-scale population analysis challenges the current criteria for the molecular diagnosis of fascioscapulohumeral muscular dystrophy.
Scionti I, Greco F, Ricci G, Govi M, Arashiro P, Vercelli L, Berardinelli A, Angelini C, Antonini G, Cao M, Di Muzio A, Moggio M, Morandi L, Ricci E, Rodolico C, Ruggiero L, Santoro L, Siciliano G, Tomelleri G, Trevisan CP, Galluzzi G, Wright W, Zatz M, Tupler R. Scionti I, et al. Among authors: siciliano g. Am J Hum Genet. 2012 Apr 6;90(4):628-35. doi: 10.1016/j.ajhg.2012.02.019. Am J Hum Genet. 2012. PMID: 22482803 Free PMC article.
An "inflammatory" mitochondrial myopathy. A case report.
Mancuso M, Orsucci D, Ienco EC, Ricci G, Ali G, Servadio A, Fontanini G, Filosto M, Vielmi V, Rocchi A, Petrozzi L, Logerfo A, Siciliano G. Mancuso M, et al. Among authors: siciliano g. Neuromuscul Disord. 2013 Nov;23(11):907-10. doi: 10.1016/j.nmd.2013.07.011. Epub 2013 Aug 8. Neuromuscul Disord. 2013. PMID: 24011700
LMNA-associated myopathies: the Italian experience in a large cohort of patients.
Maggi L, D'Amico A, Pini A, Sivo S, Pane M, Ricci G, Vercelli L, D'Ambrosio P, Travaglini L, Sala S, Brenna G, Kapetis D, Scarlato M, Pegoraro E, Ferrari M, Toscano A, Benedetti S, Bernasconi P, Colleoni L, Lattanzi G, Bertini E, Mercuri E, Siciliano G, Rodolico C, Mongini T, Politano L, Previtali SC, Carboni N, Mantegazza R, Morandi L. Maggi L, et al. Among authors: siciliano g. Neurology. 2014 Oct 28;83(18):1634-44. doi: 10.1212/WNL.0000000000000934. Epub 2014 Oct 1. Neurology. 2014. PMID: 25274841
Non-neural phenotype of spinal and bulbar muscular atrophy: results from a large cohort of Italian patients.
Querin G, Bertolin C, Da Re E, Volpe M, Zara G, Pegoraro E, Caretta N, Foresta C, Silvano M, Corrado D, Iafrate M, Angelini L, Sartori L, Pennuto M, Gaiani A, Bello L, Semplicini C, Pareyson D, Silani V, Ermani M, Ferlin A, Sorarù G; Italian Study Group on Kennedy's disease. Querin G, et al. J Neurol Neurosurg Psychiatry. 2016 Aug;87(8):810-6. doi: 10.1136/jnnp-2015-311305. Epub 2015 Oct 26. J Neurol Neurosurg Psychiatry. 2016. PMID: 26503015 Free PMC article.
Erratum to: Redefining phenotypes associated with mitochondrial DNA single deletion.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Donati MA, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Toscano A, Bruno C, Bello L, Ienco EC, Cardaioli E, Catteruccia M, Da Pozzo P, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Ronchi D, Sauchelli D, Scarpelli M, Sciacco M, Valentino ML, Vercelli L, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: siciliano g. J Neurol. 2015 Dec;262(12):2800. doi: 10.1007/s00415-015-7943-9. J Neurol. 2015. PMID: 26566910 No abstract available.
634 results