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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: mantegazza r. 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.
Chloroquine myopathy and myasthenia-like syndrome.
Sghirlanzoni A, Mantegazza R, Mora M, Pareyson D, Cornelio F. Sghirlanzoni A, et al. Among authors: mantegazza r. Muscle Nerve. 1988 Feb;11(2):114-9. doi: 10.1002/mus.880110205. Muscle Nerve. 1988. PMID: 3343986
DMD and BMD in the same family due to distinct mutations.
Morandi L, Mora M, Tedeschi S, Di Blasi C, Curcio C, De Leonardis P, Brugnoni R, Bernasconi P, Mantegazza R, Confalonieri V, et al. Morandi L, et al. Among authors: mantegazza r. Am J Med Genet. 1995 Dec 4;59(4):501-5. doi: 10.1002/ajmg.1320590418. Am J Med Genet. 1995. PMID: 8585572
Clinical heterogeneity of adhalin deficiency.
Morandi L, Barresi R, Di Blasi C, Jung D, Sunada Y, Confalonieri V, Dworzak F, Mantegazza R, Antozzi C, Jarre L, Pini A, Gobbi G, Bianchi C, Cornelio F, Campbell KP, Mora M. Morandi L, et al. Among authors: mantegazza r. Ann Neurol. 1996 Feb;39(2):196-202. doi: 10.1002/ana.410390209. Ann Neurol. 1996. PMID: 8967751
342 results