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Lista de obras de Pietro Farinelli

A large multiexonic genomic deletion within the ALMS1 gene causes Alström syndrome in a consanguineous Pakistani family

artículo científico publicado en 2015

A novel missense variant in IDH3A causes autosomal recessive retinitis pigmentosa

scientific article published on 23 April 2019

Calpain and PARP activation during photoreceptor cell death in P23H and S334ter rhodopsin mutant rats

artículo científico publicado en 2011

DNA methylation and differential gene regulation in photoreceptor cell death

artículo científico publicado en 2014

Excessive HDAC activation is critical for neurodegeneration in the rd1 mouse.

artículo científico publicado en 2010

Functional characterization of the first missense variant in CEP78, a founder allele associated with cone-rod dystrophy, hearing loss, and reduced male fertility

scientific article published on 30 January 2020

IFT20 modulates ciliary PDGFRα signaling by regulating the stability of Cbl E3 ubiquitin ligases.

artículo científico publicado en 2017

Identification of a common non-apoptotic cell death mechanism in hereditary retinal degeneration

artículo científico publicado en 2014

Interactome analysis reveals that FAM161A, deficient in recessive retinitis pigmentosa, is a component of the Golgi-centrosomal network.

artículo científico publicado en 2015

Isolated and Syndromic Retinal Dystrophy Caused by Biallelic Mutations in RCBTB1, a Gene Implicated in Ubiquitination

artículo científico publicado en 2016

Mutations in CEP78 Cause Cone-Rod Dystrophy and Hearing Loss Associated with Primary-Cilia Defects

scientific journal article

Mutations in the polyglutamylase gene TTLL5, expressed in photoreceptor cells and spermatozoa, are associated with cone-rod degeneration and reduced male fertility ⬇️

artículo científico publicado en 2016

Retinitis Pigmentosa: over-expression of anti-ageing protein Klotho in degenerating photoreceptors

artículo científico publicado en 2013

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