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Genomic organization of the dysferlin gene and novel mutations in Miyoshi myopathy.
Aoki M, Liu J, Richard I, Bashir R, Britton S, Keers SM, Oeltjen J, Brown HE, Marchand S, Bourg N, Beley C, McKenna-Yasek D, Arahata K, Bohlega S, Cupler E, Illa I, Majneh I, Barohn RJ, Urtizberea JA, Fardeau M, Amato A, Angelini C, Bushby K, Beckmann JS, Brown RH Jr. Aoki M, et al. Among authors: angelini c. Neurology. 2001 Jul 24;57(2):271-8. doi: 10.1212/wnl.57.2.271. Neurology. 2001. PMID: 11468312
Gene expression profiling in dysferlinopathies using a dedicated muscle microarray.
Campanaro S, Romualdi C, Fanin M, Celegato B, Pacchioni B, Trevisan S, Laveder P, De Pittà C, Pegoraro E, Hayashi YK, Valle G, Angelini C, Lanfranchi G. Campanaro S, et al. Among authors: angelini c. Hum Mol Genet. 2002 Dec 15;11(26):3283-98. doi: 10.1093/hmg/11.26.3283. Hum Mol Genet. 2002. PMID: 12471055
Dysferlin, a novel skeletal muscle gene, is mutated in Miyoshi myopathy and limb girdle muscular dystrophy.
Liu J, Aoki M, Illa I, Wu C, Fardeau M, Angelini C, Serrano C, Urtizberea JA, Hentati F, Hamida MB, Bohlega S, Culper EJ, Amato AA, Bossie K, Oeltjen J, Bejaoui K, McKenna-Yasek D, Hosler BA, Schurr E, Arahata K, de Jong PJ, Brown RH Jr. Liu J, et al. Among authors: angelini c. Nat Genet. 1998 Sep;20(1):31-6. doi: 10.1038/1682. Nat Genet. 1998. PMID: 9731526
The clinical spectrum of sarcoglycanopathies.
Angelini C, Fanin M, Freda MP, Duggan DJ, Siciliano G, Hoffman EP. Angelini C, et al. Neurology. 1999 Jan 1;52(1):176-9. doi: 10.1212/wnl.52.1.176. Neurology. 1999. PMID: 9921870
Clinical and genetic spectrum in limb-girdle muscular dystrophy type 2E.
Semplicini C, Vissing J, Dahlqvist JR, Stojkovic T, Bello L, Witting N, Duno M, Leturcq F, Bertolin C, D'Ambrosio P, Eymard B, Angelini C, Politano L, Laforêt P, Pegoraro E. Semplicini C, et al. Among authors: angelini c. Neurology. 2015 Apr 28;84(17):1772-81. doi: 10.1212/WNL.0000000000001519. Epub 2015 Apr 10. Neurology. 2015. PMID: 25862795 Free PMC article.
1,024 results