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Multi-system neurological disease is common in patients with OPA1 mutations.
Yu-Wai-Man P, Griffiths PG, Gorman GS, Lourenco CM, Wright AF, Auer-Grumbach M, Toscano A, Musumeci O, Valentino ML, Caporali L, Lamperti C, Tallaksen CM, Duffey P, Miller J, Whittaker RG, Baker MR, Jackson MJ, Clarke MP, Dhillon B, Czermin B, Stewart JD, Hudson G, Reynier P, Bonneau D, Marques W Jr, Lenaers G, McFarland R, Taylor RW, Turnbull DM, Votruba M, Zeviani M, Carelli V, Bindoff LA, Horvath R, Amati-Bonneau P, Chinnery PF. Yu-Wai-Man P, et al. Among authors: musumeci o. Brain. 2010 Mar;133(Pt 3):771-86. doi: 10.1093/brain/awq007. Epub 2010 Feb 15. Brain. 2010. PMID: 20157015 Free PMC article.
Emergencies cards for neuromuscular disorders 1st Consensus Meeting from UILDM - Italian Muscular Dystrophy Association Workshop report.
Racca F, Sansone VA, Ricci F, Filosto M, Pedroni S, Mazzone E, Longhitano Y, Zanza C, Ardissone A, Adorisio R, Berardinelli A, Bondone C, Briani C, Cairello F, Carraro E, Comi GP, Crescimanno G, D'Amico A, Deiaco F, Fabiano A, Franceschi F, Mancuso M, Massè A, Messina S, Mongini T, Moroni I, Moscatelli A, Musumeci O, Navalesi P, Nigro G, Origo C, Panicucci C, Pane M, Pavone M, Pedemonte M, Pegoraro E, Piastra M, Pini A, Politano L, Previtali S, Rao F, Ricci G, Toscano A, Wolfler A, Zoccola K, Sancricca C, Nigro V, Trabacca A, Vianello A, Bruno C. Racca F, et al. Among authors: musumeci o. Acta Myol. 2022 Dec 31;41(4):135-177. doi: 10.36185/2532-1900-081. eCollection 2022. Acta Myol. 2022. PMID: 36793651 Free PMC article.
Safety outcomes and patients' preferences for home-based intravenous enzyme replacement therapy (ERT) in pompe disease and mucopolysaccharidosis type I (MPS I) disorder: COVID-19 and beyond.
Toscano A, Musumeci O, Sacchini M, Ravaglia S, Siciliano G, Fiumara A, Verrecchia E, Maione M, Gentile J, Fischetto R, Crescimanno G, Taurisano R, Sechi A, Gasperini S, Cianci V, Maggi L, Parini R, Lupica A, Scarpa M. Toscano A, et al. Among authors: musumeci o. Orphanet J Rare Dis. 2023 Oct 27;18(1):338. doi: 10.1186/s13023-023-02919-8. Orphanet J Rare Dis. 2023. PMID: 37891668 Free PMC article.
Distribution of Exonic Variants in Glycogen Synthesis and Catabolism Genes in Late Onset Pompe Disease (LOPD).
De Filippi P, Errichiello E, Toscano A, Mongini T, Moggio M, Ravaglia S, Filosto M, Servidei S, Musumeci O, Giannini F, Piperno A, Siciliano G, Ricci G, Di Muzio A, Rigoldi M, Tonin P, Croce MG, Pegoraro E, Politano L, Maggi L, Telese R, Lerario A, Sancricca C, Vercelli L, Semplicini C, Pasanisi B, Bembi B, Dardis A, Palmieri I, Cereda C, Valente EM, Danesino C. De Filippi P, et al. Among authors: musumeci o. Curr Issues Mol Biol. 2023 Apr 1;45(4):2847-2860. doi: 10.3390/cimb45040186. Curr Issues Mol Biol. 2023. PMID: 37185710 Free PMC article.
Pseudodominance in RFC1-Spectrum Disorder.
Falcone GMI, Tessa A, Arena IG, Barghigiani M, Migliorato A, Incensi A, Rodolico C, Donadio V, Santorelli FM, Musumeci O. Falcone GMI, et al. Among authors: musumeci o. Cerebellum. 2024 Dec;23(6):2622-2628. doi: 10.1007/s12311-024-01735-5. Epub 2024 Sep 4. Cerebellum. 2024. PMID: 39230846
Oculomotor features in SCA27B patients.
Lopergolo D, Bargagli A, Satolli S, Barghigiani M, Mignarri A, Musumeci O, Maria Santorelli F, Rufa A. Lopergolo D, et al. Among authors: musumeci o. Clin Neurophysiol. 2024 Feb;158:56-58. doi: 10.1016/j.clinph.2023.12.010. Epub 2023 Dec 22. Clin Neurophysiol. 2024. PMID: 38176158 No abstract available.
Congenital myopathies: clinical phenotypes and new diagnostic tools.
Cassandrini D, Trovato R, Rubegni A, Lenzi S, Fiorillo C, Baldacci J, Minetti C, Astrea G, Bruno C, Santorelli FM; Italian Network on Congenital Myopathies. Cassandrini D, et al. Ital J Pediatr. 2017 Nov 15;43(1):101. doi: 10.1186/s13052-017-0419-z. Ital J Pediatr. 2017. PMID: 29141652 Free PMC article. Review.
167 results