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Dropped-head in recessive oculopharyngeal muscular dystrophy.
Garibaldi M, Pennisi EM, Bruttini M, Bizzarri V, Bucci E, Morino S, Talerico C, Stoppacciaro A, Renieri A, Antonini G. Garibaldi M, et al. Among authors: bruttini m. Neuromuscul Disord. 2015 Nov;25(11):869-72. doi: 10.1016/j.nmd.2015.08.011. Epub 2015 Sep 7. Neuromuscul Disord. 2015. PMID: 26494409
Aging-associated genes and let-7 microRNAs: a contribution to myogenic program dysregulation in oculopharyngeal muscular dystrophy.
Cappelletti C, Galbardi B, Bruttini M, Salerno F, Canioni E, Pasanisi MB, Rodolico C, Brizzi T, Mora M, Renieri A, Maggi L, Bernasconi P, Mantegazza R. Cappelletti C, et al. Among authors: bruttini m. FASEB J. 2019 Jun;33(6):7155-7167. doi: 10.1096/fj.201801577RR. Epub 2019 Mar 12. FASEB J. 2019. PMID: 30860873
Overall, our data suggest a key role of let-7 in the regeneration and degeneration process in OPMD muscle and pointed to IL-6 as a potential target molecule for new therapeutic approaches for this disorder.-Cappelletti, C., Galbardi, B., Bruttini, M., Salerno, F., C …
Overall, our data suggest a key role of let-7 in the regeneration and degeneration process in OPMD muscle and pointed to IL-6 as a potential …
Germline mosaicism in Rett syndrome identified by prenatal diagnosis.
Mari F, Caselli R, Russo S, Cogliati F, Ariani F, Longo I, Bruttini M, Meloni I, Pescucci C, Schurfeld K, Toti P, Tassini M, Larizza L, Hayek G, Zappella M, Renieri A. Mari F, et al. Among authors: bruttini m. Clin Genet. 2005 Mar;67(3):258-60. doi: 10.1111/j.1399-0004.2005.00397.x. Clin Genet. 2005. PMID: 15691364 Free article.
CDKL5 mutations may mimic Pitt-Hopkins syndrome phenotype.
Currò A, Doddato G, Bruttini M, Zollino M, Marangi G, Zappella M, Renieri A, Pinto AM. Currò A, et al. Among authors: bruttini m. Eur J Med Genet. 2021 Jan;64(1):104102. doi: 10.1016/j.ejmg.2020.104102. Epub 2020 Nov 18. Eur J Med Genet. 2021. PMID: 33220470
Novel retinal finding in a patient with 4q12 deletion.
Fruschelli M, Lorusso N, Hadjistilianou T, Mencarelli MA, Bruttini M, Renieri A, Mandalà M, Di Maggio A. Fruschelli M, et al. Among authors: bruttini m. Ophthalmic Genet. 2022 Feb;43(1):120-122. doi: 10.1080/13816810.2021.1978102. Epub 2021 Sep 22. Ophthalmic Genet. 2022. PMID: 34551660
92 results