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Hsa-miR223-3p circulating level is upregulated in Friedreich's ataxia and inversely associated with HCLS1 associated protein X-1, HAX-1.
Quatrana A, Morini E, Tiano F, Vancheri C, Panarello L, Romano S, Marcotulli C, Casali C, Mariotti C, Mongelli A, Fichera M, Rufini A, Condò I, Novelli G, Testi R, Amati F, Malisan F. Quatrana A, et al. Among authors: mariotti c. Hum Mol Genet. 2022 Jun 22;31(12):2010-2022. doi: 10.1093/hmg/ddac005. Hum Mol Genet. 2022. PMID: 35015850
Frataxin gene point mutations in Italian Friedreich ataxia patients.
Gellera C, Castellotti B, Mariotti C, Mineri R, Seveso V, Didonato S, Taroni F. Gellera C, et al. Among authors: mariotti c. Neurogenetics. 2007 Nov;8(4):289-99. doi: 10.1007/s10048-007-0101-5. Epub 2007 Aug 17. Neurogenetics. 2007. PMID: 17703324
Erythropoietin in Friedreich ataxia.
Mariotti C, Nachbauer W, Panzeri M, Poewe W, Taroni F, Boesch S. Mariotti C, et al. J Neurochem. 2013 Aug;126 Suppl 1:80-7. doi: 10.1111/jnc.12301. J Neurochem. 2013. PMID: 23859343 Free article. Review.
Loss of AP-5 results in accumulation of aberrant endolysosomes: defining a new type of lysosomal storage disease.
Hirst J, Edgar JR, Esteves T, Darios F, Madeo M, Chang J, Roda RH, Dürr A, Anheim M, Gellera C, Li J, Züchner S, Mariotti C, Stevanin G, Blackstone C, Kruer MC, Robinson MS. Hirst J, et al. Among authors: mariotti c. Hum Mol Genet. 2015 Sep 1;24(17):4984-96. doi: 10.1093/hmg/ddv220. Epub 2015 Jun 17. Hum Mol Genet. 2015. PMID: 26085577 Free PMC article.
659 results