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Next-generation sequencing approach to hyperCKemia: A 2-year cohort study.
Rubegni A, Malandrini A, Dosi C, Astrea G, Baldacci J, Battisti C, Bertocci G, Donati MA, Dotti MT, Federico A, Giannini F, Grosso S, Guerrini R, Lenzi S, Maioli MA, Melani F, Mercuri E, Sacchini M, Salvatore S, Siciliano G, Tolomeo D, Tonin P, Volpi N, Santorelli FM, Cassandrini D. Rubegni A, et al. Neurol Genet. 2019 Aug 16;5(5):e352. doi: 10.1212/NXG.0000000000000352. eCollection 2019 Oct. Neurol Genet. 2019. PMID: 31517061 Free PMC article.
A second MNGIE patient without typical mitochondrial skeletal muscle involvement.
Cardaioli E, Da Pozzo P, Malfatti E, Battisti C, Gallus GN, Gaudiano C, Macucci M, Malandrini A, Margollicci M, Rubegni A, Dotti MT, Federico A. Cardaioli E, et al. Among authors: rubegni a. Neurol Sci. 2010 Aug;31(4):491-4. doi: 10.1007/s10072-010-0225-5. Epub 2010 Mar 16. Neurol Sci. 2010. PMID: 20232099
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.
74 results