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Respiratory complex I in brain development and genetic disease.
Papa S, Petruzzella V, Scacco S, Vergari R, Panelli D, Tamborra R, Corsi P, Picciariello M, Lambo R, Bertini E, Santorelli FM. Papa S, et al. Among authors: santorelli fm. Neurochem Res. 2004 Mar;29(3):547-60. doi: 10.1023/b:nere.0000014825.42365.16. Neurochem Res. 2004. PMID: 15038602
A new locus on 3p23-p25 for an autosomal-dominant limb-girdle muscular dystrophy, LGMD1H.
Bisceglia L, Zoccolella S, Torraco A, Piemontese MR, Dell'Aglio R, Amati A, De Bonis P, Artuso L, Copetti M, Santorelli FM, Serlenga L, Zelante L, Bertini E, Petruzzella V. Bisceglia L, et al. Among authors: santorelli fm. Eur J Hum Genet. 2010 Jun;18(6):636-41. doi: 10.1038/ejhg.2009.235. Epub 2010 Jan 13. Eur J Hum Genet. 2010. PMID: 20068593 Free PMC article.
Mitochondrial DNA metabolism in early development of zebrafish (Danio rerio).
Artuso L, Romano A, Verri T, Domenichini A, Argenton F, Santorelli FM, Petruzzella V. Artuso L, et al. Among authors: santorelli fm. Biochim Biophys Acta. 2012 Jul;1817(7):1002-11. doi: 10.1016/j.bbabio.2012.03.019. Epub 2012 Mar 23. Biochim Biophys Acta. 2012. PMID: 22465854 Free article.
Pontocerebellar hypoplasia type 6 caused by mutations in RARS2: definition of the clinical spectrum and molecular findings in five patients.
Cassandrini D, Cilio MR, Bianchi M, Doimo M, Balestri M, Tessa A, Rizza T, Sartori G, Meschini MC, Nesti C, Tozzi G, Petruzzella V, Piemonte F, Bisceglia L, Bruno C, Dionisi-Vici C, D'Amico A, Fattori F, Carrozzo R, Salviati L, Santorelli FM, Bertini E. Cassandrini D, et al. Among authors: santorelli fm. J Inherit Metab Dis. 2013 Jan;36(1):43-53. doi: 10.1007/s10545-012-9487-9. Epub 2012 May 8. J Inherit Metab Dis. 2013. PMID: 22569581
606 results