Stefano Ferrari

Dr. Stefano Ferrari

orcid

Research Focus & Metrics

Academic Career Length

35Years (1992-Present)

(Calculated once Scilit publication data is synced: current year − year of first publication + 1)

Representative Publications

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1 June 2011 in Current Genomics
Verified
Journal Article
Open access
FPFrancesco Parmeggiani
Francesco Parmeggiani
FSFrancesco S. Sorrentino
Francesco S. Sorrentino
DPDiego Ponzin
Diego Ponzin
VBVanessa Barbaro
Vanessa Barbaro
SFStefano Ferrari
Stefano Ferrari
EIEnzo Di Iorio
Enzo Di Iorio
Retinitis pigmentosa (RP) is a group of inherited disorders affecting 1 in 3000-7000 people and characterized by abnormalities of the photoreceptors (rods and cones) or the retinal pigment epithelium of the retina which lead to progressive visual loss. RP can be inherited in an autosomal dominant, autosomal recessive or X-linked manner. While usually limited to the eye, RP may also occur as part of a syndrome as in the Usher syndrome and Bardet-Biedl syndrome. Over 40 genes have been associated with RP so far, with the majority of them expressed in either the photoreceptors or the retinal pigment epithelium. The tremendous heterogeneity of the disease makes the genetics of RP complicated, thus rendering genotype-phenotype correlations not fully applicable yet. In addition to the multiplicity of mutations, in fact, different mutations in the same gene may cause different diseases. We will here review which genes are involved in the genesis of RP and how mutations can lead to retinal degeneration. In the future, a more thorough analysis of genetic and clinical data together with a better understanding of the genotype-phenotype correlation might allow to reveal important information with respect to the likelihood of disease development and choices of therapy.

19 November 2006 in Nature Medicine
Verified
Journal Article
Closed access
PDF file
FMFulvio Mavilio
Fulvio Mavilio
GPGraziella Pellegrini
Graziella Pellegrini
SFStefano Ferrari
Stefano Ferrari
FNFrancesca Di Nunzio
Francesca Di Nunzio
EIEnzo Di Iorio
Enzo Di Iorio
MLMichele De Luca
Michele De Luca

1 October 1997 in Gene Therapy
Verified
Journal Article
Closed access
PDF file
SFStefano Ferrari
Stefano Ferrari
EME Moro
E Moro
APA Pettenazzo
A Pettenazzo
JBJp Behr
Jp Behr
FZF Zacchello
F Zacchello
MSM Scarpa
M Scarpa

1 September 2000 in Nature Biotechnology
Verified
Journal Article
Closed access
PDF file
YYYoshikazu Yonemitsu
Yoshikazu Yonemitsu
CKChristopher Kitson
Christopher Kitson
SFStefano Ferrari
Stefano Ferrari
RFRaymond Farley
Raymond Farley
UGUta Griesenbach
Uta Griesenbach
EAEric W.F.W. Alton
Eric W.F.W. Alton

5 August 2010 in Clinical & Experimental Ophthalmology
Verified
Journal Article
Closed access
PDF file
Colin E. WilloughbyColin E. Willoughby
Colin E. Willoughby
DPDiego Ponzin
Diego Ponzin
SFStefano Ferrari
Stefano Ferrari
ALAires Lobo
Aires Lobo
KLKlara Landau
Klara Landau
YOYadollah Omidi
Yadollah Omidi

1 December 2002 in Advanced Drug Delivery Reviews
Verified
Journal Article
Closed access
SFStefano Ferrari
Stefano Ferrari
DGDuncan M Geddes
Duncan M Geddes
EAEric W.F.W Alton
Eric W.F.W Alton