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List of works by Luigi Donato

A novel RLBP1 gene geographical area-related mutation present in a young patient with retinitis punctata albescens

scientific article

Aged fingerprints for DNA profile: First report of successful typing

scientific article published on 31 July 2019

CCM3/SERPINI1 bidirectional promoter variants in patients with cerebral cavernous malformations: a molecular and functional study

scientific article

Detection of Novel Mutation in Ccm3 Causes Familial Cerebral Cavernous Malformations.

scientific article

Discovery of GLO1 New Related Genes and Pathways by RNA-Seq on A2E-Stressed Retinal Epithelial Cells Could Improve Knowledge on Retinitis Pigmentosa

scientific article published on 13 May 2020

Effects of A2E-Induced Oxidative Stress on Retinal Epithelial Cells: New Insights on Differential Gene Response and Retinal Dystrophies

scientific article published on 10 April 2020

Expression of Pro-Angiogenic Markers Is Enhanced by Blue Light in Human RPE Cells

scientific article published on 20 November 2020

First case of Currarino syndrome and trimethylaminuria: two rare diseases for a complex clinical presentation.

scientific article published on 22 June 2016

GLO1 gene polymorphisms and their association with retinitis pigmentosa: a case-control study in a Sicilian population

scientific article published on 11 August 2018

Germline Mutation Enrichment in Pathways Controlling Endothelial Cell Homeostasis in Patients with Brain Arteriovenous Malformation: Implication for Molecular Diagnosis

scientific article published on 17 June 2020

New Omics-Derived Perspectives on Retinal Dystrophies: Could Ion Channels-Encoding or Related Genes Act as Modifier of Pathological Phenotype?

scientific article published on 23 December 2020

New evaluation methods of read mapping by 17 aligners on simulated and empirical NGS data: an updated comparison of DNA- and RNA-Seq data from Illumina and Ion Torrent technologies

scientific article published on 16 June 2021

Possible A2E Mutagenic Effects on RPE Mitochondrial DNA from Innovative RNA-Seq Bioinformatics Pipeline

scientific article published on 20 November 2020

Possible protective role of the ABCA4 gene c.1268A>G missense variant in Stargardt disease and syndromic retinitis pigmentosa in a Sicilian family: Preliminary data.

scientific article

RETRACTED ARTICLE: Non-coding RNAome of RPE cells under oxidative stress suggests unknown regulative aspects of Retinitis pigmentosa etiopathogenesis

retracted scholarly article

Relevance of CCM gene polymorphisms for clinical management of sporadic cerebral cavernous malformations.

scientific article published on 29 June 2017

Role of neurodevelopment involved genes in psychiatric comorbidities and modulation of inflammatory processes in Alzheimer's disease.

scientific article published on 28 September 2016

Role of oxidative stress in Retinitis pigmentosa: new involved pathways by an RNA-Seq analysis

scientific article published on 28 December 2018

Stargardt Phenotype Associated With Two ELOVL4 Promoter Variants and ELOVL4 Downregulation: New Possible Perspective to Etiopathogenesis?

scientific article published in February 2018

Two Novel and Mutations in Patients Affected by Cerebral Cavernous Malformations: New Information on Penetrance

scientific article published on 14 November 2018

Update on Novel CCM Gene Mutations in Patients with Cerebral Cavernous Malformations.

scientific article published on 20 December 2016

miRNAexpression profile of retinal pigment epithelial cells under oxidative stress conditions.

scientific article published on 2 January 2018

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