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Page 1
Rare variants in SQSTM1 and VCP genes and risk of sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Brady S, Holton JL, Pittman AM, Hughes D, Healy E, Parton M, Hilton-Jones D, Shieh PB, Needham M, Liang C, Zanoteli E, de Camargo LV, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Singleton AB, Hanna MG, Houlden H; Muscle Study Group and The International IBM Genetics Consortium. Gang Q, et al. Among authors: zanotti s. Neurobiol Aging. 2016 Nov;47:218.e1-218.e9. doi: 10.1016/j.neurobiolaging.2016.07.024. Epub 2016 Aug 8. Neurobiol Aging. 2016. PMID: 27594680 Free PMC article.
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: zanotti s. 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.
A novel RRM2B mutation associated with mitochondrial DNA depletion syndrome.
Fumagalli M, Ronchi D, Bedeschi MF, Manini A, Cristofori G, Mosca F, Dilena R, Sciacco M, Zanotti S, Piga D, Ardissino G, Triulzi F, Corti S, Comi GP, Salviati L. Fumagalli M, et al. Among authors: zanotti s. Mol Genet Metab Rep. 2022 Jun 18;32:100887. doi: 10.1016/j.ymgmr.2022.100887. eCollection 2022 Sep. Mol Genet Metab Rep. 2022. PMID: 35756861 Free PMC article.
MicroRNAs as serum biomarkers in Becker muscular dystrophy.
Gagliardi D, Rizzuti M, Brusa R, Ripolone M, Zanotti S, Minuti E, Parente V, Dioni L, Cazzaniga S, Bettica P, Bresolin N, Comi GP, Corti S, Magri F, Velardo D. Gagliardi D, et al. Among authors: zanotti s. J Cell Mol Med. 2022 Sep;26(17):4678-4685. doi: 10.1111/jcmm.17462. Epub 2022 Jul 26. J Cell Mol Med. 2022. PMID: 35880500 Free PMC article.
201 results