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Year Number of Results
2011 5
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2014 5
2015 8
2016 4
2024 0

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23 results

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MYH7-related myopathies: clinical, histopathological and imaging findings in a cohort of Italian patients.
Fiorillo C, Astrea G, Savarese M, Cassandrini D, Brisca G, Trucco F, Pedemonte M, Trovato R, Ruggiero L, Vercelli L, D'Amico A, Tasca G, Pane M, Fanin M, Bello L, Broda P, Musumeci O, Rodolico C, Messina S, Vita GL, Sframeli M, Gibertini S, Morandi L, Mora M, Maggi L, Petrucci A, Massa R, Grandis M, Toscano A, Pegoraro E, Mercuri E, Bertini E, Mongini T, Santoro L, Nigro V, Minetti C, Santorelli FM, Bruno C; Italian Network on Congenital Myopathies. Fiorillo C, et al. Orphanet J Rare Dis. 2016 Jul 7;11(1):91. doi: 10.1186/s13023-016-0476-1. Orphanet J Rare Dis. 2016. PMID: 27387980 Free PMC article.
Familial trisomy 6p in mother and daughter.
Savarese M, Grandone A, Perone L, Blanco Fdel V, De Luca G, Di Fruscio G, Fogu G, Piluso G, Perrone L, del Giudice EM, Nigro V. Savarese M, et al. Am J Med Genet A. 2013 Jul;161A(7):1675-81. doi: 10.1002/ajmg.a.35928. Epub 2013 May 17. Am J Med Genet A. 2013. PMID: 23687068
A defect in the RNA-processing protein HNRPDL causes limb-girdle muscular dystrophy 1G (LGMD1G).
Vieira NM, Naslavsky MS, Licinio L, Kok F, Schlesinger D, Vainzof M, Sanchez N, Kitajima JP, Gal L, Cavaçana N, Serafini PR, Chuartzman S, Vasquez C, Mimbacas A, Nigro V, Pavanello RC, Schuldiner M, Kunkel LM, Zatz M. Vieira NM, et al. Hum Mol Genet. 2014 Aug 1;23(15):4103-10. doi: 10.1093/hmg/ddu127. Epub 2014 Mar 18. Hum Mol Genet. 2014. PMID: 24647604
Familial polyglucosan body myopathy with unusual phenotype.
Fanin M, Nascimbeni AC, Savarese M, Papa V, Cenacchi G, Nigro V, Angelini C. Fanin M, et al. Neuropathol Appl Neurobiol. 2015 Apr;41(3):385-90. doi: 10.1111/nan.12171. Neuropathol Appl Neurobiol. 2015. PMID: 25041762 No abstract available.
23 results