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Page 1
A novel diagnostic method to detect truncated neurofibromin in neurofibromatosis 1.
Esposito T, Piluso G, Saracino D, Uccello R, Schettino C, Dato C, Capaldo G, Giugliano T, Varriale B, Paolisso G, Di Iorio G, Melone MA. Esposito T, et al. Among authors: giugliano t. J Neurochem. 2015 Dec;135(6):1123-8. doi: 10.1111/jnc.13396. Epub 2015 Nov 12. J Neurochem. 2015. PMID: 26478990 Free article.
Giant thrombosed intracavernous carotid artery aneurysm presenting as Tolosa-Hunt syndrome in a patient harboring a new pathogenic neurofibromatosis type 1 mutation: a case report and review of the literature.
Conforti R, Cirillo M, Marrone V, Galasso R, Capaldo G, Giugliano T, Scuotto A, Piluso G, Melone MA. Conforti R, et al. Among authors: giugliano t. Neuropsychiatr Dis Treat. 2014 Jan 20;10:135-40. doi: 10.2147/NDT.S49784. eCollection 2014. Neuropsychiatr Dis Treat. 2014. PMID: 24476631 Free PMC article.
Moyamoya syndrome in children with neurofibromatosis type 1: Italian-French experience.
Santoro C, Di Rocco F, Kossorotoff M, Zerah M, Boddaert N, Calmon R, Vidaud D, Cirillo M, Cinalli G, Mirone G, Giugliano T, Piluso G, D'Amico A, Capra V, Pavanello M, Cama A, Nobili B, Lyonnet S, Perrotta S. Santoro C, et al. Among authors: giugliano t. Am J Med Genet A. 2017 Jun;173(6):1521-1530. doi: 10.1002/ajmg.a.38212. Epub 2017 Apr 19. Am J Med Genet A. 2017. PMID: 28422438
Targeted gene panel screening is an effective tool to identify undiagnosed late onset Pompe disease.
Savarese M, Torella A, Musumeci O, Angelini C, Astrea G, Bello L, Bruno C, Comi GP, Di Fruscio G, Piluso G, Di Iorio G, Ergoli M, Esposito G, Fanin M, Farina O, Fiorillo C, Garofalo A, Giugliano T, Magri F, Minetti C, Moggio M, Passamano L, Pegoraro E, Picillo E, Sampaolo S, Santorelli FM, Semplicini C, Udd B, Toscano A, Politano L, Nigro V. Savarese M, et al. Among authors: giugliano t. Neuromuscul Disord. 2018 Jul;28(7):586-591. doi: 10.1016/j.nmd.2018.03.011. Epub 2018 Apr 9. Neuromuscul Disord. 2018. PMID: 29880332 Free article.
The genetic basis of undiagnosed muscular dystrophies and myopathies: Results from 504 patients.
Savarese M, Di Fruscio G, Torella A, Fiorillo C, Magri F, Fanin M, Ruggiero L, Ricci G, Astrea G, Passamano L, Ruggieri A, Ronchi D, Tasca G, D'Amico A, Janssens S, Farina O, Mutarelli M, Marwah VS, Garofalo A, Giugliano T, Sampaolo S, Del Vecchio Blanco F, Esposito G, Piluso G, D'Ambrosio P, Petillo R, Musumeci O, Rodolico C, Messina S, Evilä A, Hackman P, Filosto M, Di Iorio G, Siciliano G, Mora M, Maggi L, Minetti C, Sacconi S, Santoro L, Claes K, Vercelli L, Mongini T, Ricci E, Gualandi F, Tupler R, De Bleecker J, Udd B, Toscano A, Moggio M, Pegoraro E, Bertini E, Mercuri E, Angelini C, Santorelli FM, Politano L, Bruno C, Comi GP, Nigro V. Savarese M, et al. Among authors: giugliano t. Neurology. 2016 Jul 5;87(1):71-6. doi: 10.1212/WNL.0000000000002800. Epub 2016 Jun 8. Neurology. 2016. PMID: 27281536 Free PMC article.
38 results