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Digital health and Clinical Patient Management System (CPMS) platform utility for data sharing of neuromuscular patients: the Italian EURO-NMD experience.
Fortunato F, Bianchi F, Ricci G, Torri F, Gualandi F, Neri M, Farnè M, Giannini F, Malandrini A, Volpi N, Lopergolo D, Silani V, Ticozzi N, Verde F, Pareyson D, Fenu S, Bonanno S, Nigro V, Peduto C, D'Ambrosio P, Zeuli R, Zanobio M, Picillo E, Servidei S, Primiano G, Sancricca C, Sciacco M, Brusa R, Filosto M, Cotti Piccinelli S, Pegoraro E, Mongini T, Solero L, Gadaleta G, Brusa C, Minetti C, Bruno C, Panicucci C, Sansone VA, Lunetta C, Zanolini A, Toscano A, Pugliese A, Nicocia G, Bertini E, Catteruccia M, Diodato D, Atalaia A, Evangelista T, Siciliano G, Ferlini A. Fortunato F, et al. Among authors: diodato d. Orphanet J Rare Dis. 2023 Jul 21;18(1):196. doi: 10.1186/s13023-023-02776-5. Orphanet J Rare Dis. 2023. PMID: 37480080 Free PMC article.
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
Expanding the Clinical and Magnetic Resonance Spectrum of Leukoencephalopathy with Thalamus and Brainstem Involvement and High Lactate (LTBL) in a Patient Harboring a Novel EARS2 Mutation.
Biancheri R, Lamantea E, Severino M, Diodato D, Pedemonte M, Cassandrini D, Ploederl A, Trucco F, Fiorillo C, Minetti C, Santorelli FM, Zeviani M, Bruno C. Biancheri R, et al. Among authors: diodato d. JIMD Rep. 2015;23:85-9. doi: 10.1007/8904_2015_434. Epub 2015 Apr 9. JIMD Rep. 2015. PMID: 25854774 Free PMC article.
The hyperornithinemia-hyperammonemia-homocitrullinuria syndrome.
Martinelli D, Diodato D, Ponzi E, Monné M, Boenzi S, Bertini E, Fiermonte G, Dionisi-Vici C. Martinelli D, et al. Among authors: diodato d. Orphanet J Rare Dis. 2015 Mar 11;10:29. doi: 10.1186/s13023-015-0242-9. Orphanet J Rare Dis. 2015. PMID: 25874378 Free PMC article. Review.
"Mitochondrial neuropathies": A survey from the large cohort of the Italian Network.
Mancuso M, Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Tonin P, Toscano A, Bruno C, Ienco EC, Filosto M, Lamperti C, Diodato D, Moroni I, Musumeci O, Pegoraro E, Spinazzi M, Ahmed N, Sciacco M, Vercelli L, Ardissone A, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: diodato d. Neuromuscul Disord. 2016 Apr-May;26(4-5):272-6. doi: 10.1016/j.nmd.2016.02.008. Epub 2016 Feb 23. Neuromuscul Disord. 2016. PMID: 27020842 Free article.
Not only dominant, not only optic atrophy: expanding the clinical spectrum associated with OPA1 mutations.
Nasca A, Rizza T, Doimo M, Legati A, Ciolfi A, Diodato D, Calderan C, Carrara G, Lamantea E, Aiello C, Di Nottia M, Niceta M, Lamperti C, Ardissone A, Bianchi-Marzoli S, Iarossi G, Bertini E, Moroni I, Tartaglia M, Salviati L, Carrozzo R, Ghezzi D. Nasca A, et al. Among authors: diodato d. Orphanet J Rare Dis. 2017 May 12;12(1):89. doi: 10.1186/s13023-017-0641-1. Orphanet J Rare Dis. 2017. PMID: 28494813 Free PMC article.
Revisiting mitochondrial ocular myopathies: a study from the Italian Network.
Orsucci D, Angelini C, Bertini E, Carelli V, Comi GP, Federico A, Minetti C, Moggio M, Mongini T, Santorelli FM, Servidei S, Tonin P, Ardissone A, Bello L, Bruno C, Ienco EC, Diodato D, Filosto M, Lamperti C, Moroni I, Musumeci O, Pegoraro E, Primiano G, Ronchi D, Rubegni A, Salvatore S, Sciacco M, Valentino ML, Vercelli L, Toscano A, Zeviani M, Siciliano G, Mancuso M. Orsucci D, et al. Among authors: diodato d. J Neurol. 2017 Aug;264(8):1777-1784. doi: 10.1007/s00415-017-8567-z. Epub 2017 Jul 10. J Neurol. 2017. PMID: 28695364
73 results