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117 results

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Page 1
Childhood neurofibromatosis type 2 (NF2) and related disorders: from bench to bedside and biologically targeted therapies.
Ruggieri M, Praticò AD, Serra A, Maiolino L, Cocuzza S, Di Mauro P, Licciardello L, Milone P, Privitera G, Belfiore G, Di Pietro M, Di Raimondo F, Romano A, Chiarenza A, Muglia M, Polizzi A, Evans DG. Ruggieri M, et al. Among authors: muglia m. Acta Otorhinolaryngol Ital. 2016 Oct;36(5):345-367. doi: 10.14639/0392-100X-1093. Acta Otorhinolaryngol Ital. 2016. PMID: 27958595 Free PMC article. Review.
A mosaic pattern of INI1/SMARCB1 protein expression distinguishes Schwannomatosis and NF2-associated peripheral schwannomas from solitary peripheral schwannomas and NF2-associated vestibular schwannomas.
Caltabiano R, Magro G, Polizzi A, Praticò AD, Ortensi A, D'Orazi V, Panunzi A, Milone P, Maiolino L, Nicita F, Capone GL, Sestini R, Paganini I, Muglia M, Cavallaro S, Lanzafame S, Papi L, Ruggieri M. Caltabiano R, et al. Among authors: muglia m. Childs Nerv Syst. 2017 Jun;33(6):933-940. doi: 10.1007/s00381-017-3340-2. Epub 2017 Apr 1. Childs Nerv Syst. 2017. PMID: 28365909
A novel locus for dHMN with pyramidal features maps to chromosome 4q34.3-q35.2.
Muglia M, Magariello A, Citrigno L, Passamonti L, Sprovieri T, Conforti FL, Mazzei R, Patitucci A, Gabriele AL, Ungaro C, Bellesi M, Quattrone A. Muglia M, et al. Clin Genet. 2008 May;73(5):486-91. doi: 10.1111/j.1399-0004.2008.00969.x. Epub 2008 Mar 11. Clin Genet. 2008. PMID: 18336586
Narrowing of the critical region in autosomal recessive spastic paraplegia linked to the SPG5 locus.
Muglia M, Criscuolo C, Magariello A, De Michele G, Scarano V, D'Adamo P, Ambrosio G, Gabriele AL, Patitucci A, Mazzei R, Conforti FL, Sprovieri T, Morgante L, Epifanio A, La Spina P, Valentino P, Gasparini P, Filla A, Quattrone A. Muglia M, et al. Neurogenetics. 2004 Feb;5(1):49-54. doi: 10.1007/s10048-003-0167-7. Epub 2003 Dec 5. Neurogenetics. 2004. PMID: 14658060
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Patitucci A, Magariello A, Sprovieri T, Ungaro C, Gabriele AL, Muglia M, Del Giudice E, Quattrone A. Conforti FL, et al. Among authors: muglia m. Hum Genet. 2006 Jul;119(6):675. Hum Genet. 2006. PMID: 17128467 No abstract available.
Gene symbol: MECP2. Disease: Rett syndrome.
Conforti FL, Mazzei R, Sprovieri T, Ungaro C, Patitucci A, Magariello A, Gabriele AL, Bravaccio C, Muglia M, Quattrone A. Conforti FL, et al. Among authors: muglia m. Hum Genet. 2006 Jul;119(6):676. Hum Genet. 2006. PMID: 17128468 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Sprovieri T, Patitucci A, Magariello A, Gabriele AL, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. Hum Genet. 2007 Apr;121(2):295. Hum Genet. 2007. PMID: 17598216 No abstract available.
Gene symbol: NOTCH3.
Mazzei R, Conforti FL, Ungaro C, Liguori M, Magariello A, Gabriele AL, Patitucci A, Sprovieri T, Muglia M, Quattrone A. Mazzei R, et al. Among authors: muglia m. Hum Genet. 2007 Apr;121(2):296. Hum Genet. 2007. PMID: 17598243 No abstract available.
117 results