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131 results

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Page 1
The clinical spectrum of CASQ1-related myopathy.
Semplicini C, Bertolin C, Bello L, Pantic B, Guidolin F, Vianello S, Catapano F, Colombo I, Moggio M, Gavassini BF, Cenacchi G, Papa V, Previtero M, Calore C, Sorarù G, Minervini G, Tosatto SCE, Stramare R, Pegoraro E. Semplicini C, et al. Among authors: stramare r. Neurology. 2018 Oct 23;91(17):e1629-e1641. doi: 10.1212/WNL.0000000000006387. Epub 2018 Sep 26. Neurology. 2018. PMID: 30258016 Free PMC article.
MYH7 gene mutation in myosin storage myopathy and scapulo-peroneal myopathy.
Pegoraro E, Gavassini BF, Borsato C, Melacini P, Vianello A, Stramare R, Cenacchi G, Angelini C. Pegoraro E, et al. Among authors: stramare r. Neuromuscul Disord. 2007 Apr;17(4):321-9. doi: 10.1016/j.nmd.2007.01.010. Epub 2007 Mar 2. Neuromuscul Disord. 2007. PMID: 17336526
Sphingomonas paucimobilis associated with localised calf myositis.
Pegoraro E, Borsato C, Dal Bello F, Stramare R, Fanin M, Palu G, Angelini C. Pegoraro E, et al. Among authors: stramare r. J Neurol Neurosurg Psychiatry. 2008 Oct;79(10):1194-5. doi: 10.1136/jnnp.2007.123059. J Neurol Neurosurg Psychiatry. 2008. PMID: 18796597 No abstract available.
Muscle MR imaging in tubular aggregate myopathy.
Beltrame V, Ortolan P, Coran A, Zanato R, Gazzola M, Frigo A, Bello L, Pegoraro E, Stramare R. Beltrame V, et al. Among authors: stramare r. PLoS One. 2014 Apr 10;9(4):e94427. doi: 10.1371/journal.pone.0094427. eCollection 2014. PLoS One. 2014. PMID: 24722334 Free PMC article.
Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Valentino ML, Valentino L, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: stramare r. Neurogenetics. 2016 Jan;17(1):65-70. doi: 10.1007/s10048-015-0465-x. Epub 2015 Nov 10. Neurogenetics. 2016. PMID: 26556812
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Valentino ML, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: stramare r. Neurogenetics. 2016 Apr;17(2):143. doi: 10.1007/s10048-016-0475-3. Neurogenetics. 2016. PMID: 26924555 No abstract available.
Erratum to: Clinical and molecular study in a long-surviving patient with MLASA syndrome due to novel PUS1 mutations.
Cao M, Donà M, Lucia Valentino M, Semplicini C, Maresca A, Cassina M, Torraco A, Galletta E, Manfioli V, Sorarù G, Carelli V, Stramare R, Bertini E, Carrozzo R, Salviati L, Pegoraro E. Cao M, et al. Among authors: stramare r. Neurogenetics. 2017 Jan;18(1):69. doi: 10.1007/s10048-016-0501-5. Neurogenetics. 2017. PMID: 27913898 No abstract available.
Muscle MRI and functional outcome measures in Becker muscular dystrophy.
Barp A, Bello L, Caumo L, Campadello P, Semplicini C, Lazzarotto A, Sorarù G, Calore C, Rampado A, Motta R, Stramare R, Pegoraro E. Barp A, et al. Among authors: stramare r. Sci Rep. 2017 Nov 22;7(1):16060. doi: 10.1038/s41598-017-16170-2. Sci Rep. 2017. PMID: 29167533 Free PMC article.
Muscle MRI in patients with dysferlinopathy: pattern recognition and implications for clinical trials.
Diaz-Manera J, Fernandez-Torron R, LLauger J, James MK, Mayhew A, Smith FE, Moore UR, Blamire AM, Carlier PG, Rufibach L, Mittal P, Eagle M, Jacobs M, Hodgson T, Wallace D, Ward L, Smith M, Stramare R, Rampado A, Sato N, Tamaru T, Harwick B, Rico Gala S, Turk S, Coppenrath EM, Foster G, Bendahan D, Le Fur Y, Fricke ST, Otero H, Foster SL, Peduto A, Sawyer AM, Hilsden H, Lochmuller H, Grieben U, Spuler S, Tesi Rocha C, Day JW, Jones KJ, Bharucha-Goebel DX, Salort-Campana E, Harms M, Pestronk A, Krause S, Schreiber-Katz O, Walter MC, Paradas C, Hogrel JY, Stojkovic T, Takeda S, Mori-Yoshimura M, Bravver E, Sparks S, Bello L, Semplicini C, Pegoraro E, Mendell JR, Bushby K, Straub V; Jain COS Consortium. Diaz-Manera J, et al. Among authors: stramare r. J Neurol Neurosurg Psychiatry. 2018 Oct;89(10):1071-1081. doi: 10.1136/jnnp-2017-317488. Epub 2018 May 7. J Neurol Neurosurg Psychiatry. 2018. PMID: 29735511 Free PMC article.
131 results