Results 191 to 200 of about 12,927 (274)

A complete, homozygous CRX deletion causing nullizygosity is a new genetic mechanism for Leber congenital amaurosis

, 2018
Malik Ibrahim, Tuğba Alarcon-Martinez, I. López, Norma Fajardo, John Chiang, R. K. Koenekoop   +5 more
openalex   +1 more source

A novel <i>RPE65</i> variant p.(Ala391Asp) in Leber congenital amaurosis: a case report and literature review in Japan. [PDF]

Front Med (Lausanne)
Higa N, Hayashi T, Mizobuchi K, Iwasa M, Kubota S, Kuniyoshi K, Kameya S, Kondo H, Kondo M, Nakano T.   +9 more
europepmc   +1 more source

Functional assessment of AIPL1 variations identified in Leber Congenital Amaurosis patients

, 2017
Almudena Sacristán-Reviriego, James Bellingham, Chrisostomos Prodromou, Jacqueline van der Spuy   +3 more
openalex   +1 more source

The pathogenicity of novel GUCY2D mutations in Leber congenital amaurosis 1 assessed by HPLC-MS/MS

, 2020
Feng Xue, Tianying Wei, Junhui Sun, Yuqin Luo, Yanan Huo, Ping Yu, Jiao Chen, Xiaoming Wei, Ming Qi, Yinghui Ye   +9 more
openalex   +2 more sources

Recessive Mutations in KCNJ13, Encoding an Inwardly Rectifying Potassium Channel Subunit, Cause Leber Congenital Amaurosis [PDF]

, 2011
Panagiotis I. Sergouniotis, Alice E. Davidson, Donna S. Mackay, Zheng Li, Yang Xu, Vincent Plagnol, Anthony T. Moore, Andrew R. Webster   +7 more
openalex   +1 more source

Safety and Long-Term Efficacy of AAV4 Gene Therapy in Patients with RPE65 Leber Congenital Amaurosis.

Molecular Therapy, 2018
G. Le Meur, P. Lebranchu, F. Billaud, O. Adjali, S. Schmitt, S. Bézieau, Y. Péréon, R. Valabrègue, C. Ivan, C. Darmon, P. Moullier, F. Rolling, M. Weber   +12 more
semanticscholar   +1 more source

Abnormalities of the five serum ions in patients with Leber congenital amaurosis

, 2017
Zhi‐Zhong Wu, Bojing Yan, Qiuju Wu, Chong Weihua, Genlin Li   +4 more
openalex   +2 more sources

The Clinical Findings, Pathogenic Variants, and Gene Therapy Qualifications Found in a Leber Congenital Amaurosis Phenotypic Spectrum Patient Cohort. [PDF]

Int J Mol Sci
Sather R, Ihinger J, Simmons M, Lobo GP, Montezuma SR.   +4 more
europepmc   +1 more source

Ablation of Fatty Acid Transport Protein-4 Enhances Cone Survival, M-cone Vision, and Synthesis of Cone-Tropic 9-cis-Retinal in rd12 Mouse Model of Leber Congenital Amaurosis. [PDF]

J Neurosci
Li S, Jin M.
europepmc   +1 more source

Clinical Characteristics of Patients With Less Common Causes of Leber Congenital Amaurosis/Early-Onset Severe Retinal Dystrophy

Vishanna Balbirsingh, Malena Daich Varela, Michel Michaelides   +2 more
openalex   +1 more source