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BAG3 mutations: another cause of giant axonal neuropathy.
Jaffer F, Murphy SM, Scoto M, Healy E, Rossor AM, Brandner S, Phadke R, Selcen D, Jungbluth H, Muntoni F, Reilly MM. Jaffer F, et al. Among authors: scoto m. J Peripher Nerv Syst. 2012 Jun;17(2):210-6. doi: 10.1111/j.1529-8027.2012.00409.x. J Peripher Nerv Syst. 2012. PMID: 22734908
Early neurodevelopmental assessment in Duchenne muscular dystrophy.
Pane M, Scalise R, Berardinelli A, D'Angelo G, Ricotti V, Alfieri P, Moroni I, Hartley L, Pera MC, Baranello G, Catteruccia M, Casalino T, Romeo DM, Graziano A, Gandioli C, Bianco F, Mazzone ES, Lombardo ME, Scoto M, Sivo S, Palermo C, Gualandi F, Sormani MP, Ferlini A, Bertini E, Muntoni F, Mercuri E. Pane M, et al. Among authors: scoto m. Neuromuscul Disord. 2013 Jun;23(6):451-5. doi: 10.1016/j.nmd.2013.02.012. Epub 2013 Mar 25. Neuromuscul Disord. 2013. PMID: 23535446
Mutations in BICD2 cause dominant congenital spinal muscular atrophy and hereditary spastic paraplegia.
Oates EC, Rossor AM, Hafezparast M, Gonzalez M, Speziani F, MacArthur DG, Lek M, Cottenie E, Scoto M, Foley AR, Hurles M, Houlden H, Greensmith L, Auer-Grumbach M, Pieber TR, Strom TM, Schule R, Herrmann DN, Sowden JE, Acsadi G, Menezes MP, Clarke NF, Züchner S; UK10K; Muntoni F, North KN, Reilly MM. Oates EC, et al. Among authors: scoto m. Am J Hum Genet. 2013 Jun 6;92(6):965-73. doi: 10.1016/j.ajhg.2013.04.018. Epub 2013 May 9. Am J Hum Genet. 2013. PMID: 23664120 Free PMC article.
Congenital myopathies: Natural history of a large pediatric cohort.
Colombo I, Scoto M, Manzur AY, Robb SA, Maggi L, Gowda V, Cullup T, Yau M, Phadke R, Sewry C, Jungbluth H, Muntoni F. Colombo I, et al. Among authors: scoto m. Neurology. 2015 Jan 6;84(1):28-35. doi: 10.1212/WNL.0000000000001110. Epub 2014 Nov 26. Neurology. 2015. PMID: 25428687 Free PMC article.
88 results