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Genetic defects are common in myopathies with tubular aggregates.
Gang Q, Bettencourt C, Brady S, Holton JL, Healy EG, McConville J, Morrison PJ, Ripolone M, Violano R, Sciacco M, Moggio M, Mora M, Mantegazza R, Zanotti S, Wang Z, Yuan Y, Liu WW, Beeson D, Hanna M, Houlden H. Gang Q, et al. Among authors: sciacco m. Ann Clin Transl Neurol. 2022 Jan;9(1):4-15. doi: 10.1002/acn3.51477. Epub 2021 Dec 15. Ann Clin Transl Neurol. 2022. PMID: 34908252 Free PMC article.
Partial depletion and multiple deletions of muscle mtDNA in familial MNGIE syndrome.
Papadimitriou A, Comi GP, Hadjigeorgiou GM, Bordoni A, Sciacco M, Napoli L, Prelle A, Moggio M, Fagiolari G, Bresolin N, Salani S, Anastasopoulos I, Giassakis G, Divari R, Scarlato G. Papadimitriou A, et al. Among authors: sciacco m. Neurology. 1998 Oct;51(4):1086-92. doi: 10.1212/wnl.51.4.1086. Neurology. 1998. PMID: 9781534
Sarcoglycan deficiency in a large Italian population of myopathic patients.
Prelle A, Comi GP, Tancredi L, Rigoletto C, Ciscato P, Fortunato F, Nesti S, Sciacco M, Robotti M, Bazzi P, Felisari G, Moggio M, Scarlato G. Prelle A, et al. Among authors: sciacco m. Acta Neuropathol. 1998 Nov;96(5):509-14. doi: 10.1007/s004010050926. Acta Neuropathol. 1998. PMID: 9829815
122 results