Donaudy F - Search Results

1

A new locus (DFNA47) for autosomal dominant non-syndromic inherited hearing loss maps to 9p21-22 in a large Italian family.

D'Adamo P, Donaudy F, D'Eustacchio A, Di Iorio E, Melchionda S, Gasparini P. D'Adamo P, et al. Among authors: donaudy f. Eur J Hum Genet. 2003 Feb;11(2):121-4. doi: 10.1038/sj.ejhg.5200929. Eur J Hum Genet. 2003. PMID: 12634859

2

Multiple mutations of MYO1A, a cochlear-expressed gene, in sensorineural hearing loss.

Donaudy F, Ferrara A, Esposito L, Hertzano R, Ben-David O, Bell RE, Melchionda S, Zelante L, Avraham KB, Gasparini P. Donaudy F, et al. Am J Hum Genet. 2003 Jun;72(6):1571-7. doi: 10.1086/375654. Epub 2003 May 6. Am J Hum Genet. 2003. PMID: 12736868 Free PMC article.

3

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. 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.

4

Identification of a novel mutation in the myosin VIIA motor domain in a family with autosomal dominant hearing loss (DFNA11).

Di Leva F, D'Adamo P, Cubellis MV, D'Eustacchio A, Errichiello M, Saulino C, Auletta G, Giannini P, Donaudy F, Ciccodicola A, Gasparini P, Franzè A, Marciano E. Di Leva F, et al. Among authors: donaudy f. Audiol Neurootol. 2006;11(3):157-64. doi: 10.1159/000091199. Epub 2006 Jan 9. Audiol Neurootol. 2006. PMID: 16449806

5

Espin gene (ESPN) mutations associated with autosomal dominant hearing loss cause defects in microvillar elongation or organisation.

Donaudy F, Zheng L, Ficarella R, Ballana E, Carella M, Melchionda S, Estivill X, Bartles JR, Gasparini P. Donaudy F, et al. J Med Genet. 2006 Feb;43(2):157-61. doi: 10.1136/jmg.2005.032086. Epub 2005 Jun 1. J Med Genet. 2006. PMID: 15930085 Free PMC article.

6

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: donaudy f. 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.

7

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: donaudy f. 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.

8

The pharmacological chaperone 1-deoxynojirimycin increases the activity and lysosomal trafficking of multiple mutant forms of acid alpha-glucosidase.

Flanagan JJ, Rossi B, Tang K, Wu X, Mascioli K, Donaudy F, Tuzzi MR, Fontana F, Cubellis MV, Porto C, Benjamin E, Lockhart DJ, Valenzano KJ, Andria G, Parenti G, Do HV. Flanagan JJ, et al. Among authors: donaudy f. Hum Mutat. 2009 Dec;30(12):1683-92. doi: 10.1002/humu.21121. Hum Mutat. 2009. PMID: 19862843

9

Abnormal mannose-6-phosphate receptor trafficking impairs recombinant alpha-glucosidase uptake in Pompe disease fibroblasts.

Cardone M, Porto C, Tarallo A, Vicinanza M, Rossi B, Polishchuk E, Donaudy F, Andria G, De Matteis MA, Parenti G. Cardone M, et al. Among authors: donaudy f. Pathogenetics. 2008 Dec 1;1(1):6. doi: 10.1186/1755-8417-1-6. Pathogenetics. 2008. PMID: 19046416 Free PMC article.

10

Pharmacological enhancement of mutated alpha-glucosidase activity in fibroblasts from patients with Pompe disease.

Parenti G, Zuppaldi A, Gabriela Pittis M, Rosaria Tuzzi M, Annunziata I, Meroni G, Porto C, Donaudy F, Rossi B, Rossi M, Filocamo M, Donati A, Bembi B, Ballabio A, Andria G. Parenti G, et al. Among authors: donaudy f. Mol Ther. 2007 Mar;15(3):508-14. doi: 10.1038/sj.mt.6300074. Epub 2007 Jan 9. Mol Ther. 2007. PMID: 17213836 Free article.

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