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Page 1
Spectrum of hemojuvelin gene mutations in 1q-linked juvenile hemochromatosis.
Lanzara C, Roetto A, Daraio F, Rivard S, Ficarella R, Simard H, Cox TM, Cazzola M, Piperno A, Gimenez-Roqueplo AP, Grammatico P, Volinia S, Gasparini P, Camaschella C. Lanzara C, et al. Among authors: ficarella r. Blood. 2004 Jun 1;103(11):4317-21. doi: 10.1182/blood-2004-01-0192. Epub 2004 Feb 24. Blood. 2004. PMID: 14982873 Free article.
Juvenile hemochromatosis locus maps to chromosome 1q in a French Canadian population.
Rivard SR, Lanzara C, Grimard D, Carella M, Simard H, Ficarella R, Simard R, D'Adamo AP, Férec C, Camaschella C, Mura C, Roetto A, De Braekeleer M, Bechner L, Gasparini P. Rivard SR, et al. Among authors: ficarella r. Eur J Hum Genet. 2003 Aug;11(8):585-9. doi: 10.1038/sj.ejhg.5201009. Eur J Hum Genet. 2003. PMID: 12891378
Nonmuscle myosin heavy-chain gene MYH14 is expressed in cochlea and mutated in patients affected by autosomal dominant hearing impairment (DFNA4).
Donaudy F, Snoeckx R, Pfister M, Zenner HP, Blin N, Di Stazio M, Ferrara A, Lanzara C, Ficarella R, Declau F, Pusch CM, Nürnberg P, Melchionda S, Zelante L, Ballana E, Estivill X, Van Camp G, Gasparini P, Savoia A. Donaudy F, et al. Among authors: ficarella r. Am J Hum Genet. 2004 Apr;74(4):770-6. doi: 10.1086/383285. Epub 2004 Mar 10. Am J Hum Genet. 2004. PMID: 15015131 Free PMC article.
A second locus mapping to 2q35-36 for familial pseudohyperkalaemia.
Carella M, d'Adamo AP, Grootenboer-Mignot S, Vantyghem MC, Esposito L, D'Eustacchio A, Ficarella R, Stewart GW, Gasparini P, Delaunay J, Iolascon A. Carella M, et al. Among authors: ficarella r. Eur J Hum Genet. 2004 Dec;12(12):1073-6. doi: 10.1038/sj.ejhg.5201280. Eur J Hum Genet. 2004. PMID: 15470366
Are MYO1C and MYO1F associated with hearing loss?
Zadro C, Alemanno MS, Bellacchio E, Ficarella R, Donaudy F, Melchionda S, Zelante L, Rabionet R, Hilgert N, Estivill X, Van Camp G, Gasparini P, Carella M. Zadro C, et al. Among authors: ficarella r. Biochim Biophys Acta. 2009 Jan;1792(1):27-32. doi: 10.1016/j.bbadis.2008.10.017. Epub 2008 Nov 5. Biochim Biophys Acta. 2009. PMID: 19027848 Free article.
A functional study of plasma-membrane calcium-pump isoform 2 mutants causing digenic deafness.
Ficarella R, Di Leva F, Bortolozzi M, Ortolano S, Donaudy F, Petrillo M, Melchionda S, Lelli A, Domi T, Fedrizzi L, Lim D, Shull GE, Gasparini P, Brini M, Mammano F, Carafoli E. Ficarella R, et al. Proc Natl Acad Sci U S A. 2007 Jan 30;104(5):1516-21. doi: 10.1073/pnas.0609775104. Epub 2007 Jan 18. Proc Natl Acad Sci U S A. 2007. PMID: 17234811 Free PMC article.
D184E mutation in aquaporin-4 gene impairs water permeability and links to deafness.
Nicchia GP, Ficarella R, Rossi A, Giangreco I, Nicolotti O, Carotti A, Pisani F, Estivill X, Gasparini P, Svelto M, Frigeri A. Nicchia GP, et al. Among authors: ficarella r. Neuroscience. 2011 Dec 1;197:80-8. doi: 10.1016/j.neuroscience.2011.09.023. Epub 2011 Sep 16. Neuroscience. 2011. PMID: 21952128
36 results