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Page 1
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. Among authors: gasparini p. 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.
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: gasparini p. 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.
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: gasparini p. 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.
Audiometric evaluation of carriers of the connexin 26 mutation 35delG.
Franzé A, Caravelli A, Di Leva F, Marciano E, Auletta G, D'Aulos F, Saulino C, Esposito L, Carella M, Gasparini P. Franzé A, et al. Among authors: gasparini p. Eur Arch Otorhinolaryngol. 2005 Nov;262(11):921-4. doi: 10.1007/s00405-005-0918-1. Epub 2005 May 14. Eur Arch Otorhinolaryngol. 2005. PMID: 15895291
610 results