E. Rinaldi

University of Naples Federico II — Italy

Biochemistry, Genetics and Molecular Biology · Life Sciences

17h-index1.2kcitations75works0.02yr avg
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Research Topics

Connexins and lens biology(18), Retinal Development and Disorders(16), Biochemical effects in animals(11), Retinal Diseases and Treatments(10), Advanced Glycation End Products research(9)

Publications75 total

Comprehensive mutation analysis (20 families) of the choroideremia gene reveals a missense variant that prevents the binding of REP1 with rab geranylgeranyl transferase
Human Mutation·2011· 61 cited
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
British Journal of Ophthalmology·2008· 35 cited
Autosomal Recessive Retinitis Pigmentosa Gene Analysis in Italian Patients
Investigative Ophthalmology & Visual Science·2008
Clinical Phenotype of an Italian Case of Oculocutaneous Albinism Type 4 Caused by Novel Mutations in the Matp Gene
Investigative Ophthalmology & Visual Science·2008
Clinical and Molecular Genetics of Leber's Congenital Amaurosis: A Multicenter Study of Italian Patients
Investigative Ophthalmology & Visual Science·2007· 138 citedOpen Access
Clinical Genetic Multicentric Study on Leber Congenital Amaurosis: New Insight on Diagnosis and Follow Up
Investigative Ophthalmology & Visual Science·2007
Relation Between Macular Thickness and Central Visual Function in Patients Affected by Retinitis Pigmentosa: New Clinical Outcomes
Investigative Ophthalmology & Visual Science·2007
Integrated Out-Patient Management of Hypertensive Patients with Heart Failure: Effects on NYHA Class and Ejection Fraction in Patient with Compromised and Preserved Systolic Function
High Blood Pressure & Cardiovascular Prevention·2007Open Access
Molecular Genetics of Autosomal Dominant Retinitis Pigmentosa: A Multicentric Italian Study
Investigative Ophthalmology & Visual Science·2005
Genotype-Phenotype Correlation in Italian Families with Stargardt Disease
Ophthalmic Research·2005· 44 cited
Association of a Homozygous Nonsense Mutation in the ABCA4 (ABCR) Gene with Cone-Rod Dystrophy Phenotype in an Italian Family
Ophthalmic Research·2004· 24 cited
Identification and characterization of C1orf36, a transcript highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
Biochemical and Biophysical Research Communications·2003· 11 cited
An Italian Family Affected by Autosomal Dominant Microcephaly With Chorioretinal Degeneration
Journal of Pediatric Ophthalmology & Strabismus·2002· 8 cited
Characterization of MPP4, a gene highly expressed in photoreceptor cells, and mutation analysis in retinitis pigmentosa
Gene·2002· 15 cited
Identification of novel RP2 mutations in a subset of X-linked retinitis pigmentosa families and prediction of new domains
Human Mutation·2001· 43 cited
Author Index Vol. 33, 2001
Ophthalmic Research·2001Open Access
Subject Index Vol. 33, 2001
Ophthalmic Research·2001Open Access
Apolipoprotein E Polymorphisms in Age-Related Macular Degeneration in an Italian Population
Ophthalmic Research·2001· 86 cited
New ABCR mutations and clinical phenotype in Italian patients with Stargardt disease.
PubMed·2000· 84 cited
Mutation analysis of the RPGR gene reveals novel mutations in south European patients with X-linked retinitis pigmentosa
European Journal of Human Genetics·1999· 31 citedOpen Access
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Frequent Co-authors

Francesca Simonelli(29), Francesco Testa(14), Ciro Costagliola(13), L. Cotticelli(12), G Auricchio(10), M. Menzione(7), Alfredo Ciccodicola(6), Anna Nesti(6), Silvia Savastano(6), Settimio Rossi(5), Teodosio Libondi(5), Giuseppe de Crecchio(4), Michele D’Urso(4), Giuseppe Nunziata(4), Maria Giuseppina Miano(4), Sandro Banfi(3), M. Pensa(3), Rando Allikmets(3), V. Ventruto(3), Giuseppe Iuliano(3)