scholarly journals 484. Preclinical Proof of Concept of Transcriptional Silencing and Replacement Strategy for Treatment of Retinitis Pigmentosa Due To RHODOPSIN Mutations

2015 ◽  
Vol 23 ◽  
pp. S192
Author(s):  
Salvatore Botta ◽  
Elena Marrocco ◽  
Nicola de Prisco ◽  
Fabiola Curion ◽  
Martina Sofia ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Transcriptional Silencing ◽  
Proof Of Concept ◽  
Replacement Strategy ◽  
Rhodopsin Mutations

scholarly journals Complexity of the Class B Phenotype in Autosomal Dominant Retinitis Pigmentosa Due to Rhodopsin Mutations

2016 ◽  
Vol 57 (11) ◽  
pp. 4847 ◽  
Author(s):  
Samuel G. Jacobson ◽  
David B. McGuigan ◽  
Alexander Sumaroka ◽  
Alejandro J. Roman ◽  
Michaela L. Gruzensky ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Class B ◽  
Rhodopsin Mutations

scholarly journals Gene Therapy for Retinitis Pigmentosa Caused by MFRP Mutations: Human Phenotype and Preliminary Proof of Concept

2012 ◽  
Vol 23 (4) ◽  
pp. 367-376 ◽  
Author(s):  
Astra Dinculescu ◽  
Jackie Estreicher ◽  
Juan C. Zenteno ◽  
Tomas S. Aleman ◽  
Sharon B. Schwartz ◽  
...  
Keyword(s):  
Gene Therapy ◽  
Retinitis Pigmentosa ◽  
Proof Of Concept ◽  
Human Phenotype

Rhodopsin mutations in autosomal dominant retinitis pigmentosa

1993 ◽  
Vol 2 (4) ◽  
pp. 249-255 ◽  
Author(s):  
Mai Al-Maghtheh ◽  
Cheryl Gregory ◽  
Chris Inglehearn ◽  
Alison Hardcastle ◽  
Shomi Bhattacharya
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Mutations

Phenotypes of Carboxyl-Terminal Rhodopsin Mutations in Autosomal Dominant Retinitis Pigmentosa

1993 ◽  
pp. 115-125
Author(s):  
Eckart Apfelstedt-Sylla ◽  
Susanna Bunge ◽  
Dezsö David ◽  
Klaus Rüther ◽  
Andreas Gal ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Carboxyl Terminal ◽  
Rhodopsin Mutations

Rhodopsin Mutations in Sectorial Retinitis Pigmentosa

2001 ◽  
pp. 87-94
Author(s):  
S. Kaushal ◽  
D. A. R. Bessant ◽  
A. M. Payne ◽  
S. M. Downes ◽  
G. E. Holder ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Rhodopsin Mutations

Three novel rhodopsin mutations (C110F, L131P, A164V) in patients with autosomal dominant retinitis pigmentosa

1994 ◽  
Vol 3 (7) ◽  
pp. 1203-1203 ◽  
Author(s):  
S. Fuchs ◽  
H. Kranich ◽  
M.J. Denton ◽  
E. Zrenner ◽  
S.S. Bhattacharya ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Autosomal Dominant ◽  
Autosomal Dominant Retinitis Pigmentosa ◽  
Rhodopsin Mutations

scholarly journals Retinitis pigmentosa associated with rhodopsin mutations: Correlation between phenotypic variability and molecular effects

2006 ◽  
Vol 46 (27) ◽  
pp. 4556-4567 ◽  
Author(s):  
Alessandro Iannaccone ◽  
David Man ◽  
Naushin Waseem ◽  
Barbara J. Jennings ◽  
Madhavi Ganapathiraju ◽  
...  
Keyword(s):  
Retinitis Pigmentosa ◽  
Phenotypic Variability ◽  
Molecular Effects ◽  
Rhodopsin Mutations
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