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Broad phenotypic spectrum and genotype-phenotype correlations in GMPPB-related dystroglycanopathies: an Italian cross-sectional study.
Astrea G, Romano A, Angelini C, Antozzi CG, Barresi R, Battini R, Battisti C, Bertini E, Bruno C, Cassandrini D, Fanin M, Fattori F, Fiorillo C, Guerrini R, Maggi L, Mercuri E, Morani F, Mora M, Moro F, Pezzini I, Picillo E, Pinelli M, Politano L, Rubegni A, Sanseverino W, Savarese M, Striano P, Torella A, Trevisan CP, Trovato R, Zaraieva I, Muntoni F, Nigro V, D'Amico A, Santorelli FM; Italian CMD Network. Astrea G, et al. Among authors: morani f. Orphanet J Rare Dis. 2018 Sep 26;13(1):170. doi: 10.1186/s13023-018-0863-x. Orphanet J Rare Dis. 2018. PMID: 30257713 Free PMC article.
Clinical and molecular studies in two new cases of ARSACS.
Ricca I, Morani F, Bacci GM, Nesti C, Caputo R, Tessa A, Santorelli FM. Ricca I, et al. Among authors: morani f. Neurogenetics. 2019 Mar;20(1):45-49. doi: 10.1007/s10048-019-00564-7. Epub 2019 Jan 24. Neurogenetics. 2019. PMID: 30680480
Proteomic and functional analyses in disease models reveal CLN5 protein involvement in mitochondrial dysfunction.
Doccini S, Morani F, Nesti C, Pezzini F, Calza G, Soliymani R, Signore G, Rocchiccioli S, Kanninen KM, Huuskonen MT, Baumann MH, Simonati A, Lalowski MM, Santorelli FM. Doccini S, et al. Among authors: morani f. Cell Death Discov. 2020 Mar 30;6:18. doi: 10.1038/s41420-020-0250-y. eCollection 2020. Cell Death Discov. 2020. PMID: 32257390 Free PMC article.
A novel mutation of Twinkle in Perrault syndrome: A not rare diagnosis?
Gotta F, Lamp M, Geroldi A, Trevisan L, Origone P, Fugazza G, Fabbri S, Nesti C, Rubegni A, Morani F, Santorelli FM, Bellone E, Mandich P. Gotta F, et al. Among authors: morani f. Ann Hum Genet. 2020 Sep;84(5):417-422. doi: 10.1111/ahg.12384. Epub 2020 Apr 12. Ann Hum Genet. 2020. PMID: 32281099
A homozygous MRPL24 mutation causes a complex movement disorder and affects the mitoribosome assembly.
Di Nottia M, Marchese M, Verrigni D, Mutti CD, Torraco A, Oliva R, Fernandez-Vizarra E, Morani F, Trani G, Rizza T, Ghezzi D, Ardissone A, Nesti C, Vasco G, Zeviani M, Minczuk M, Bertini E, Santorelli FM, Carrozzo R. Di Nottia M, et al. Among authors: morani f. Neurobiol Dis. 2020 Jul;141:104880. doi: 10.1016/j.nbd.2020.104880. Epub 2020 Apr 25. Neurobiol Dis. 2020. PMID: 32344152 Free article.
[No title available]
[No authors listed] [No authors listed] PMID: 33563949
38 results