Cargando…

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients

BACKGROUND: Objective techniques to assess the amelioration of vision in patients with impaired visual function are needed to standardize efficacy assessment in gene therapy trials for ocular diseases. Pupillometry has been investigated in several diseases in order to provide objective information a...

Descripción completa

Detalles Bibliográficos
Autores principales:	Melillo, Paolo, Pecchia, Leandro, Testa, Francesco, Rossi, Settimio, Bennett, Jean, Simonelli, Francesca
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	BioMed Central 2012
Materias:	Research
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3526436/ https://www.ncbi.nlm.nih.gov/pubmed/22812667 http://dx.doi.org/10.1186/1475-925X-11-40

Ejemplares similares

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration
por: Simonelli, Francesca, et al.
Publicado: (2009)

Identifying fallers among ophthalmic patients using classification tree methodology
por: Melillo, Paolo, et al.
Publicado: (2017)

Molecular characterization of Leber congenital amaurosis in Koreans
por: Seong, Moon-Woo, et al.
Publicado: (2008)

Treatment Potential for LCA5-Associated Leber Congenital Amaurosis
por: Uyhazi, Katherine E., et al.
Publicado: (2020)

NMNAT1 mutations cause Leber congenital amaurosis
por: Falk, Marni J, et al.
Publicado: (2012)

The genetic profile of Leber congenital amaurosis in an Australian cohort
por: Thompson, Jennifer A., et al.
Publicado: (2017)

Leber Congenital Amaurosis (LCA): Potential for Improvement of Vision
por: Cideciyan, Artur V., et al.
Publicado: (2019)

fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis
por: Ashtari, Manzar, et al.
Publicado: (2014)

Voretigene Neparvovec and Gene Therapy for Leber’s Congenital Amaurosis: Review of Evidence to Date
por: Padhy, Srikanta Kumar, et al.
Publicado: (2020)

Diagnostic application of clinical exome sequencing in Leber congenital amaurosis
por: Han, Jinu, et al.
Publicado: (2017)

Leber’s Congenital Amaurosis: Current Concepts of Genotype-Phenotype Correlations
por: Huang, Chu-Hsuan, et al.
Publicado: (2021)

Novel gene variants in Polish patients with Leber congenital amaurosis (LCA)
por: Skorczyk-Werner, Anna, et al.
Publicado: (2020)

RNA-based therapies in animal models of Leber congenital amaurosis causing blindness
por: Wang, Xia, et al.
Publicado: (2020)

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290
por: Collin, Rob WJ, et al.
Publicado: (2012)

Mobility test to assess functional vision in dark-adapted patients with Leber congenital amaurosis
por: Roman, Alejandro J., et al.
Publicado: (2022)

Molecular and clinical analysis of 27 German patients with Leber congenital amaurosis
por: Weisschuh, Nicole, et al.
Publicado: (2018)

Novel mutation identified in Leber congenital amaurosis - a case report
por: Sato, Shigeru, et al.
Publicado: (2020)

Retinal structure in Leber’s congenital amaurosis caused by RPGRIP1 mutations
por: Miyamichi, Daisuke, et al.
Publicado: (2019)

The Role of TRiC-enhanced Actin Folding in Leber Congenital Amaurosis
por: Berger, Silke, et al.
Publicado: (2023)

An Update on Gene Therapy for Inherited Retinal Dystrophy: Experience in Leber Congenital Amaurosis Clinical Trials
por: Chiu, Wei, et al.
Publicado: (2021)

Functional improvement assessed by multifocal electroretinogram after Ocriplasmin treatment for vitreomacular traction
por: Rossi, Settimio, et al.
Publicado: (2016)

Cost-effective sequence analysis of 113 genes in 1,192 probands with retinitis pigmentosa and Leber congenital amaurosis
por: Panneman, Daan M., et al.
Publicado: (2023)

Differential Proteomics and Functional Research following Gene Therapy in a Mouse Model of Leber Congenital Amaurosis
por: Zheng, Qinxiang, et al.
Publicado: (2012)

Detection of Variants in 15 Genes in 87 Unrelated Chinese Patients with Leber Congenital Amaurosis
por: Li, Lin, et al.
Publicado: (2011)

A Gene Scan Study of RPE65 in Chinese Patients with Leber Congenital Amaurosis
por: Liu, Jing, et al.
Publicado: (2017)

Hypomorphic mutations identified in candidate Leber congenital amaurosis disease gene CLUAP1
por: Soens, Zachry T., et al.
Publicado: (2016)

CRB1 Gene Mutation Causing Different Phenotypes of Leber Congenital Amaurosis in Siblings
por: Khan, Shaheryar Ahmed, et al.
Publicado: (2019)

Novel RPE65 mutations associated with Leber congenital amaurosis in Chinese patients
por: Xu, Fei, et al.
Publicado: (2012)

Novel compound heterozygous NMNAT1 variants associated with Leber congenital amaurosis
por: Siemiatkowska, Anna M., et al.
Publicado: (2014)

Ultra wide field imaging of coats like response in Leber’s congenital amaurosis
por: Kumar, Vinod, et al.
Publicado: (2017)

Copy number variations and multiallelic variants in Korean patients with Leber congenital amaurosis
por: Surl, Dongheon, et al.
Publicado: (2020)

Relative preservation of the extramacular retina in LCA5-associated Leber congenital amaurosis
por: O'Connor, Keli, et al.
Publicado: (2022)

Gene Therapy for Inherited Retinal Disorders Short Term Results of the First Human Trials in Leber’s Congenital Amaurosis
por: Ghasemi Falavarjani, Khalil
Publicado: (2009)

Gene Therapy of Dominant CRX-Leber Congenital Amaurosis using Patient Stem Cell-Derived Retinal Organoids
por: Kruczek, Kamil, et al.
Publicado: (2021)

Novel GUCY2D Gene Mutations in Japanese Male Twins with Leber Congenital Amaurosis
por: Hosono, Katsuhiro, et al.
Publicado: (2015)

Compound heterozygous novel frameshift variants in the PROM1 gene result in Leber congenital amaurosis
por: Ragi, Sara D., et al.
Publicado: (2019)

A null mutation in CABP4 causes Leber’s congenital amaurosis-like phenotype
por: Aldahmesh, Mohammed A., et al.
Publicado: (2010)

Ocular and extra-ocular features of patients with Leber congenital amaurosis and mutations in CEP290
por: Yzer, Suzanne, et al.
Publicado: (2012)

CCT2 Mutations Evoke Leber Congenital Amaurosis due to Chaperone Complex Instability
por: Minegishi, Yuriko, et al.
Publicado: (2016)

Severe Loss of Tritan Color Discrimination in RPE65 Associated Leber Congenital Amaurosis
por: Kumaran, Neruban, et al.
Publicado: (2018)

Cannot write session to /tmp/vufind_sessions/sess_to9ejm8um0h7qik8fgs3bgoi1o