Cargando…

fMRI of Retina-Originated Phosphenes Experienced by Patients with Leber Congenital Amaurosis

A phenomenon characterized by the experience of seeing light without any light actually entering the eye is called phosphenes or photopsias. Phosphenes can occur spontaneously or via induction by external stimuli. Previous reports regarding phosphenes have primarily focused on externally induced pho...

Descripción completa

Detalles Bibliográficos
Autores principales:	Ashtari, Manzar, Cyckowski, Laura, Yazdi, Alborz, Viands, Amanda, Marshall, Kathleen, Bókkon, István, Maguire, Albert, Bennett, Jean
Formato:	Online Artículo Texto
Lenguaje:	English
Publicado:	Public Library of Science 2014
Materias:	Research Article
Acceso en línea:	https://www.ncbi.nlm.nih.gov/pmc/articles/PMC3897613/ https://www.ncbi.nlm.nih.gov/pubmed/24465873 http://dx.doi.org/10.1371/journal.pone.0086068

Ejemplares similares

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

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)

Pupillometric analysis for assessment of gene therapy in Leber Congenital Amaurosis patients
por: Melillo, Paolo, et al.
Publicado: (2012)

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)

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)

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

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

Where Are the fMRI Correlates of Phosphene Perception?
por: de Graaf, Tom A., et al.
Publicado: (2018)

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)

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)

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

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

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)

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

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

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

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

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)

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

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

Functional study of two biochemically unusual mutations in GUCY2D Leber congenital amaurosis expressed via adenoassociated virus vector in mouse retinas
por: Boye, Sanford L., et al.
Publicado: (2016)

Identification of differentially regulated proteins in a patient with Leber's Congenital Amaurosis – a proteomic study
por: Vorum, Henrik, et al.
Publicado: (2007)

Low prevalence of LRAT mutations in patients with Leber congenital amaurosis and autosomal recessive retinitis pigmentosa
por: Sweeney, Meredith O., et al.
Publicado: (2007)

Mutations that are a common cause of Leber congenital amaurosis in northern America are rare in Southern India
por: Sundaresan, Periasamy, et al.
Publicado: (2009)

Bax-Induced Apoptosis in Leber's Congenital Amaurosis: A Dual Role in Rod and Cone Degeneration
por: Hamann, Séverine, et al.
Publicado: (2009)

Leber congenital amaurosis associated with Chiari I malformation: Two cases and a review of the literature
por: Petraglia, Anthony L., et al.
Publicado: (2012)

Brain Imaging Studies in Leber's Congenital Amaurosis: New Radiologic Findings Associated with the Complex Trait
por: Yang, Hee Kyung, et al.
Publicado: (2010)

Disruption of intraflagellar protein transport in photoreceptor cilia causes Leber congenital amaurosis in humans and mice
por: Boldt, K, et al.
Publicado: (2012)

Cannot write session to /tmp/vufind_sessions/sess_dhem244li6esm3piedqsiglivb