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Large genotype-phenotype study in carriers of D4Z4 borderline alleles provides guidance for facioscapulohumeral muscular dystrophy diagnosis.
Ricci G, Mele F, Govi M, Ruggiero L, Sera F, Vercelli L, Bettio C, Santoro L, Mongini T, Villa L, Moggio M, Filosto M, Scarlato M, Previtali SC, Tripodi SM, Pegoraro E, Telese R, Di Muzio A, Rodolico C, Bucci E, Antonini G, D'Angelo MG, Berardinelli A, Maggi L, Piras R, Maioli MA, Siciliano G, Tomelleri G, Angelini C, Tupler R. Ricci G, et al. Sci Rep. 2020 Dec 10;10(1):21648. doi: 10.1038/s41598-020-78578-7. Sci Rep. 2020. PMID: 33303865 Free PMC article.
Mitochondria and neurodegeneration.
Petrozzi L, Ricci G, Giglioli NJ, Siciliano G, Mancuso M. Petrozzi L, et al. Among authors: ricci 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. Among authors: ricci g. Biosci Rep. 2007 Jun;27(1-3):53-67. doi: 10.1007/s10540-007-9037-0. Biosci Rep. 2007. PMID: 17492503 Review.
Pes cavus and hereditary neuropathies: when a relationship should be suspected.
Piazza S, Ricci G, Caldarazzo Ienco E, Carlesi C, Volpi L, Siciliano G, Mancuso M. Piazza S, et al. Among authors: ricci g. J Orthop Traumatol. 2010 Dec;11(4):195-201. doi: 10.1007/s10195-010-0114-y. Epub 2010 Oct 21. J Orthop Traumatol. 2010. PMID: 20963465 Free PMC article. Review.
Observational clinical study in juvenile-adult glycogenosis type 2 patients undergoing enzyme replacement therapy for up to 4 years.
Angelini C, Semplicini C, Ravaglia S, Bembi B, Servidei S, Pegoraro E, Moggio M, Filosto M, Sette E, Crescimanno G, Tonin P, Parini R, Morandi L, Marrosu G, Greco G, Musumeci O, Di Iorio G, Siciliano G, Donati MA, Carubbi F, Ermani M, Mongini T, Toscano A; Italian GSDII Group. Angelini C, et al. J Neurol. 2012 May;259(5):952-8. doi: 10.1007/s00415-011-6293-5. Epub 2011 Nov 12. J Neurol. 2012. PMID: 22081099
1,785 results