[HTML][HTML] Inherited Retinal Diseases Due to RPE65 Variants: From Genetic Diagnostic Management to Therapy
M Aoun, I Passerini, P Chiurazzi, M Karali… - International Journal of …, 2021 - mdpi.com
Inherited retinal diseases (IRDs) are a heterogeneous group of conditions that include
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
retinitis pigmentosa (RP) and Leber congenital amaurosis (LCA) and early-onset severe …
[HTML][HTML] Genetic epidemiology of inherited retinal diseases in a large patient cohort followed at a single center in Italy
…, M Pizzo, P Melillo, R Brunetti-Pierri, I Passerini… - Scientific Reports, 2022 - nature.com
Inherited retinal diseases (IRDs) are the leading cause of vision loss in the working-age
population. We performed a retrospective epidemiological study to determine the genetic …
population. We performed a retrospective epidemiological study to determine the genetic …
[HTML][HTML] Correlation between photoreceptor layer integrity and visual function in patients with Stargardt disease: implications for gene therapy
F Testa, S Rossi, A Sodi, I Passerini… - … & visual science, 2012 - iovs.arvojournals.org
Purpose.: To perform a clinical characterization of Stargardt patients with ABCA4 gene
mutation, and to investigate the correlation between the inner and outer segment (IS/OS) …
mutation, and to investigate the correlation between the inner and outer segment (IS/OS) …
A molecular screening strategy based on β-myosin heavy chain, cardiac myosin binding protein C and troponin T genes in Italian patients with hypertrophic …
F Girolami, I Olivotto, I Passerini… - Journal of …, 2006 - journals.lww.com
Background Mutations causing hypertrophic cardiomyopathy (HCM) have been described in
nine different genes of the sarcomere. Three genes account for most known mutations: β …
nine different genes of the sarcomere. Three genes account for most known mutations: β …
[HTML][HTML] RPE65-associated inherited retinal diseases: consensus recommendations for eligibility to gene therapy
…, S Banfi, F Testa, M Della Corte, I Passerini… - Orphanet Journal of …, 2021 - Springer
Background This research aimed to establish recommendations on the clinical and genetic
characteristics necessary to confirm patient eligibility for gene supplementation with …
characteristics necessary to confirm patient eligibility for gene supplementation with …
EDI-OCT evaluation of choroidal thickness in retinitis pigmentosa
…, D Bacherini, F Cipollini, I Passerini… - European Journal …, 2018 - journals.sagepub.com
Purpose: To evaluate choroidal thickness (CT) in retinitis pigmentosa (RP) using enhanced
depth imaging (EDI) optical coherence tomography (OCT). Methods: A retrospective …
depth imaging (EDI) optical coherence tomography (OCT). Methods: A retrospective …
[HTML][HTML] Novel mutations in of the ABCR gene in Italian patients with Stargardt disease
I Passerini, A Sodi, B Giambene, A Mariottini… - Eye, 2010 - nature.com
Purpose: Stargardt disease (STGD) is the most prevalent juvenile macular dystrophy, and it
has been associated with mutations in the ABCRgene, encoding a photoreceptor-specific …
has been associated with mutations in the ABCRgene, encoding a photoreceptor-specific …
Prevalence and clinical profile of troponin T mutations among patients with hypertrophic cardiomyopathy in tuscany
The prevalence and clinical profile of cardiac troponin T gene mutations were evaluated in
150 consecutive patients with hypertrophic cardiomyopathy from the well-defined …
150 consecutive patients with hypertrophic cardiomyopathy from the well-defined …
[HTML][HTML] A computational approach from gene to structure analysis of the human ABCA4 transporter involved in genetic retinal diseases
…, DEV Pires, A Sodi, I Passerini… - … & Visual Science, 2017 - iovs.arvojournals.org
Purpose: The aim of this article is to report the investigation of the structural features of
ABCA4, a protein associated with a genetic retinal disease. A new database collecting …
ABCA4, a protein associated with a genetic retinal disease. A new database collecting …
A normal electro-oculography in a family affected by best disease with a novel spontaneous mutation of the BEST1 gene
F Testa, S Rossi, I Passerini, A Sodi… - British journal of …, 2008 - bjo.bmj.com
Aims: To describe clinical and genetic findings in an Italian family affected by Best disease.
Methods: Five related patients underwent a complete ophthalmological assessment; genetic …
Methods: Five related patients underwent a complete ophthalmological assessment; genetic …