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Next-generation sequencing reveals DGUOK mutations in adult patients with mitochondrial DNA multiple deletions.
Ronchi D, Garone C, Bordoni A, Gutierrez Rios P, Calvo SE, Ripolone M, Ranieri M, Rizzuti M, Villa L, Magri F, Corti S, Bresolin N, Mootha VK, Moggio M, DiMauro S, Comi GP, Sciacco M. Ronchi D, et al. Among authors: ripolone m. Brain. 2012 Nov;135(Pt 11):3404-15. doi: 10.1093/brain/aws258. Epub 2012 Oct 4. Brain. 2012. PMID: 23043144 Free PMC article.
Novel CLN3 mutation causing autophagic vacuolar myopathy.
Cortese A, Tucci A, Piccolo G, Galimberti CA, Fratta P, Marchioni E, Grampa G, Cereda C, Grieco G, Ricca I, Pittman A, Ciscato P, Napoli L, Lucchini V, Ripolone M, Violano R, Fagiolari G, Mole SE, Hardy J, Moglia A, Moggio M. Cortese A, et al. Among authors: ripolone m. Neurology. 2014 Jun 10;82(23):2072-6. doi: 10.1212/WNL.0000000000000490. Epub 2014 May 14. Neurology. 2014. PMID: 24827497 Free PMC article.
Glycogen storage disease type III: A novel Agl knockout mouse model.
Pagliarani S, Lucchiari S, Ulzi G, Violano R, Ripolone M, Bordoni A, Nizzardo M, Gatti S, Corti S, Moggio M, Bresolin N, Comi GP. Pagliarani S, et al. Among authors: ripolone m. Biochim Biophys Acta. 2014 Nov;1842(11):2318-28. doi: 10.1016/j.bbadis.2014.07.029. Epub 2014 Aug 1. Biochim Biophys Acta. 2014. PMID: 25092169 Free article.
The effects of an intronic polymorphism in TOMM40 and APOE genotypes in sporadic inclusion body myositis.
Gang Q, Bettencourt C, Machado PM, Fox Z, Brady S, Healy E, Parton M, Holton JL, Hilton-Jones D, Shieh PB, Zanoteli E, De Paepe B, De Bleecker J, Shaibani A, Ripolone M, Violano R, Moggio M, Barohn RJ, Dimachkie MM, Mora M, Mantegazza R, Zanotti S, Hanna MG, Houlden H; Muscle Study Group and the International IBM Genetics Consortium(#). Gang Q, et al. Among authors: ripolone m. Neurobiol Aging. 2015 Apr;36(4):1766.e1-1766.e3. doi: 10.1016/j.neurobiolaging.2014.12.039. Epub 2015 Jan 14. Neurobiol Aging. 2015. PMID: 25670332 Free PMC article.
Impaired Muscle Mitochondrial Biogenesis and Myogenesis in Spinal Muscular Atrophy.
Ripolone M, Ronchi D, Violano R, Vallejo D, Fagiolari G, Barca E, Lucchini V, Colombo I, Villa L, Berardinelli A, Balottin U, Morandi L, Mora M, Bordoni A, Fortunato F, Corti S, Parisi D, Toscano A, Sciacco M, DiMauro S, Comi GP, Moggio M. Ripolone M, et al. JAMA Neurol. 2015 Jun;72(6):666-75. doi: 10.1001/jamaneurol.2015.0178. JAMA Neurol. 2015. PMID: 25844556 Free PMC article.
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: ripolone m. 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.
Reversal of Defective Mitochondrial Biogenesis in Limb-Girdle Muscular Dystrophy 2D by Independent Modulation of Histone and PGC-1α Acetylation.
Pambianco S, Giovarelli M, Perrotta C, Zecchini S, Cervia D, Di Renzo I, Moscheni C, Ripolone M, Violano R, Moggio M, Bassi MT, Puri PL, Latella L, Clementi E, De Palma C. Pambianco S, et al. Among authors: ripolone m. Cell Rep. 2016 Dec 13;17(11):3010-3023. doi: 10.1016/j.celrep.2016.11.044. Cell Rep. 2016. PMID: 27974213 Free article.
48 results