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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: primiano g. 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.
PPIs as possible risk factor for copper deficiency myelopathy.
Plantone D, Renna R, Primiano G, Shukralla A, Koudriavtseva T. Plantone D, et al. Among authors: primiano g. J Neurol Sci. 2015 Feb 15;349(1-2):258-9. doi: 10.1016/j.jns.2015.01.009. Epub 2015 Jan 12. J Neurol Sci. 2015. PMID: 25598493 No abstract available.
Rewiring of Glutamine Metabolism Is a Bioenergetic Adaptation of Human Cells with Mitochondrial DNA Mutations.
Chen Q, Kirk K, Shurubor YI, Zhao D, Arreguin AJ, Shahi I, Valsecchi F, Primiano G, Calder EL, Carelli V, Denton TT, Beal MF, Gross SS, Manfredi G, D'Aurelio M. Chen Q, et al. Among authors: primiano g. Cell Metab. 2018 May 1;27(5):1007-1025.e5. doi: 10.1016/j.cmet.2018.03.002. Epub 2018 Apr 12. Cell Metab. 2018. PMID: 29657030 Free PMC article.
Osteoma of the internal auditory canal.
Plantone D, Renna R, Primiano G, Servidei S. Plantone D, et al. Among authors: primiano g. Intern Med. 2013;52(7):839. doi: 10.2169/internalmedicine.52.9425. Epub 2013 Apr 1. Intern Med. 2013. PMID: 23545691 Free article. No abstract available.
Midbrain panda sign in a patient with Wilson's disease.
Plantone D, Primiano G, Servidei S. Plantone D, et al. Among authors: primiano g. Intern Med. 2013;52(11):1285. doi: 10.2169/internalmedicine.52.0344. Intern Med. 2013. PMID: 23728578 Free article. No abstract available.
Myoclonus in mitochondrial disorders.
Mancuso M, Orsucci D, Angelini C, Bertini E, Catteruccia M, Pegoraro E, Carelli V, Valentino ML, Comi GP, Minetti C, Bruno C, Moggio M, Ienco EC, Mongini T, Vercelli L, Primiano G, Servidei S, Tonin P, Scarpelli M, Toscano A, Musumeci O, Moroni I, Uziel G, Santorelli FM, Nesti C, Filosto M, Lamperti C, Zeviani M, Siciliano G. Mancuso M, et al. Among authors: primiano g. Mov Disord. 2014 May;29(6):722-8. doi: 10.1002/mds.25839. Epub 2014 Feb 7. Mov Disord. 2014. PMID: 24510442
"Myo-cardiomyopathy" is commonly associated with the A8344G "MERRF" mutation.
Catteruccia M, Sauchelli D, Della Marca G, Primiano G, Cuccagna C, Bernardo D, Leo M, Camporeale A, Sanna T, Cianfoni A, Servidei S. Catteruccia M, et al. Among authors: primiano g. J Neurol. 2015 Mar;262(3):701-10. doi: 10.1007/s00415-014-7632-0. Epub 2015 Jan 6. J Neurol. 2015. PMID: 25559684
LOPED study: looking for an early diagnosis in a late-onset Pompe disease high-risk population.
Musumeci O, la Marca G, Spada M, Mondello S, Danesino C, Comi GP, Pegoraro E, Antonini G, Marrosu G, Liguori R, Morandi L, Moggio M, Massa R, Ravaglia S, Di Muzio A, Filosto M, Tonin P, Di Iorio G, Servidei S, Siciliano G, Angelini C, Mongini T, Toscano A; Italian GSD II group. Musumeci O, et al. J Neurol Neurosurg Psychiatry. 2016 Jan;87(1):5-11. doi: 10.1136/jnnp-2014-310164. Epub 2015 Mar 17. J Neurol Neurosurg Psychiatry. 2016. PMID: 25783438
97 results