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Autophagic vacuolar myopathy caused by a CLN3 mutation. A case report.
Moro F, Rubegni A, Pochiero F, Mero S, Procopio E, Baldacci J, Donati MA, Santorelli FM. Moro F, et al. Among authors: rubegni a. Neuromuscul Disord. 2019 Jan;29(1):67-69. doi: 10.1016/j.nmd.2018.11.006. Epub 2018 Nov 22. Neuromuscul Disord. 2019. PMID: 30553701
Centronuclear myopathies: genotype-phenotype correlation and frequency of defined genetic forms in an Italian cohort.
Fattori F, Maggi L, Bruno C, Cassandrini D, Codemo V, Catteruccia M, Tasca G, Berardinelli A, Magri F, Pane M, Rubegni A, Santoro L, Ruggiero L, Fiorini P, Pini A, Mongini T, Messina S, Brisca G, Colombo I, Astrea G, Fiorillo C, Bragato C, Moroni I, Pegoraro E, D'Apice MR, Alfei E, Mora M, Morandi L, Donati A, Evilä A, Vihola A, Udd B, Bernansconi P, Mercuri E, Santorelli FM, Bertini E, D'Amico A. Fattori F, et al. Among authors: rubegni a. J Neurol. 2015 Jul;262(7):1728-40. doi: 10.1007/s00415-015-7757-9. Epub 2015 May 10. J Neurol. 2015. PMID: 25957634
Hereditary spastic paraplegia type 11 with a very late onset.
Rubegni A, Storti E, Tessa A, Federico A, Santorelli FM. Rubegni A, et al. J Neurol. 2015 Aug;262(8):1987-9. doi: 10.1007/s00415-015-7854-9. Epub 2015 Jul 17. J Neurol. 2015. PMID: 26183056 No abstract available.
Novel findings associated with MTM1 suggest a higher number of female symptomatic carriers.
Savarese M, Musumeci O, Giugliano T, Rubegni A, Fiorillo C, Fattori F, Torella A, Battini R, Rodolico C, Pugliese A, Piluso G, Maggi L, D'Amico A, Bruno C, Bertini E, Santorelli FM, Mora M, Toscano A, Minetti C, Nigro V. Savarese M, et al. Among authors: rubegni a. Neuromuscul Disord. 2016 Apr-May;26(4-5):292-9. doi: 10.1016/j.nmd.2016.02.004. Epub 2016 Feb 17. Neuromuscul Disord. 2016. PMID: 27017278 Free PMC article.
74 results