Cited by

• Pathogenic Variants in the Myosin Chaperone UNC-45B Cause Progressive Myopathy with Eccentric Cores.

  Donkervoort S, Kutzner CE, Hu Y, Lornage X, Rendu J, Stojkovic T, Baets J, Neuhaus SB, Tanboon J, Maroofian R, Bolduc V, Mroczek M, Conijn S, Kuntz NL, Töpf A, Monges S, Lubieniecki F, McCarty RM, Chao KR, Governali S, Böhm J, Boonyapisit K, Malfatti E, Sangruchi T, Horkayne-Szakaly I, Hedberg-Oldfors C, Efthymiou S, Noguchi S, Djeddi S, Iida A, di Rosa G, Fiorillo C, Salpietro V, Darin N, Fauré J, Houlden H, Oldfors A, Nishino I, de Ridder W, Straub V, Pokrzywa W, Laporte J, Foley AR, Romero NB, Ottenheijm C, Hoppe T, Bönnemann CG. Donkervoort S, et al. Am J Hum Genet. 2020 Dec 3;107(6):1078-1095. doi: 10.1016/j.ajhg.2020.11.002. Epub 2020 Nov 19. Am J Hum Genet. 2020. PMID: 33217308 Free PMC article.
• Knockdown of alpha myosin heavy chain disrupts the cytoskeleton and leads to multiple defects during chick cardiogenesis.

  Rutland C, Warner L, Thorpe A, Alibhai A, Robinson T, Shaw B, Layfield R, Brook JD, Loughna S. Rutland C, et al. J Anat. 2009 Jun;214(6):905-15. doi: 10.1111/j.1469-7580.2009.01079.x. J Anat. 2009. PMID: 19538634 Free PMC article.
• Dominant myosin storage myopathy mutations disrupt striated muscles in Drosophila and the myosin tail-tail interactome of human cardiac thick filaments.

  Viswanathan MC, Dutta D, Kronert WA, Chitre K, Padrón R, Craig R, Bernstein SI, Cammarato A. Viswanathan MC, et al. Genetics. 2025 Jan 8;229(1):1-34. doi: 10.1093/genetics/iyae174. Genetics. 2025. PMID: 39485824 Free PMC article.
• Update on Congenital Myopathies in Adulthood.

  Papadimas GK, Xirou S, Kararizou E, Papadopoulos C. Papadimas GK, et al. Int J Mol Sci. 2020 May 24;21(10):3694. doi: 10.3390/ijms21103694. Int J Mol Sci. 2020. PMID: 32456280 Free PMC article. Review.
• 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.