Intravitreal antisense oligonucleotide sepofarsen in Leber congenital amaurosis type 10: a phase 1b/2 trial

Durable vision improvement after a single treatment with antisense oligonucleotide sepofarsen: a case report

(2021) Artur V. Cideciyan et al.   NATURE MEDICINE

Opportunities and challenges for antisense oligonucleotide therapies

(2020) Elsa C. Kuijper et al.   JOURNAL OF INHERITED METABOLIC DISEASE

Volanesorsen and Triglyceride Levels in Familial Chylomicronemia Syndrome

(2019) Joseph L. Witztum et al.   NEW ENGLAND JOURNAL OF MEDICINE

CEP290 mutation spectrum and delineation of the associated phenotype in a large German cohort: a monocentric study

(2019) Britta Feldhaus et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Patient-Customized Oligonucleotide Therapy for a Rare Genetic Disease

(2019) Jinkuk Kim et al.   NEW ENGLAND JOURNAL OF MEDICINE

Inotersen Treatment for Patients with Hereditary Transthyretin Amyloidosis

(2018) Merrill D. Benson et al.   NEW ENGLAND JOURNAL OF MEDICINE

Nusinersen versus Sham Control in Later-Onset Spinal Muscular Atrophy

(2018) Eugenio Mercuri et al.   NEW ENGLAND JOURNAL OF MEDICINE

Leber Congenital Amaurosis Associated with Mutations in CEP290 , Clinical Phenotype, and Natural History in Preparation for Trials of Novel Therapies

(2018) Leo Sheck et al.   OPHTHALMOLOGY

Splice-Modulating Oligonucleotide QR-110 Restores CEP290 mRNA and Function in Human c.2991+1655A>G LCA10 Models

(2018) Kalyan Dulla et al.   Molecular Therapy-Nucleic Acids

Effect of an intravitreal antisense oligonucleotide on vision in Leber congenital amaurosis due to a photoreceptor cilium defect

(2018) Artur V. Cideciyan et al.   NATURE MEDICINE

Nusinersen versus Sham Control in Infantile-Onset Spinal Muscular Atrophy

(2017) Richard S. Finkel et al.   NEW ENGLAND JOURNAL OF MEDICINE

Identification and Correction of Mechanisms Underlying Inherited Blindness in Human iPSC-Derived Optic Cups

(2016) David A. Parfitt et al.   Cell Stem Cell

Treatment of retinitis pigmentosa due to MERTK mutations by ocular subretinal injection of adeno-associated virus gene vector: results of a phase I trial

(2016) Nicola G. Ghazi et al.   HUMAN GENETICS

CEP290 alleles in mice disrupt tissue-specific cilia biogenesis and recapitulate features of syndromic ciliopathies

(2015) Rivka A. Rachel et al.   HUMAN MOLECULAR GENETICS

Management of iatrogenic crystalline lens injury occurred during intravitreal injection

(2015) Gurkan Erdogan et al.   INTERNATIONAL OPHTHALMOLOGY

Review and update on the molecular basis of Leber congenital amaurosis

(2015) Oscar Francisco Chacon-Camacho   World Journal of Clinical Cases

INTRAVITREAL INJECTION TECHNIQUE AND MONITORING

(2014) Robert L. Avery et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

PSYCHOPHYSICAL MEASUREMENT OF ROD AND CONE THRESHOLDS IN STARGARDT DISEASE WITH FULL-FIELD STIMULI

(2014) Frederick T. Collison et al.   RETINA-THE JOURNAL OF RETINAL AND VITREOUS DISEASES

Visual Acuity Changes in Patients With Leber Congenital Amaurosis and Mutations in CEP290

(2013) J. Jason McAnany et al.   JAMA Ophthalmology

AON-mediated Exon Skipping Restores Ciliation in Fibroblasts Harboring the Common Leber Congenital Amaurosis CEP290 Mutation

(2013) Xavier Gerard et al.   Molecular Therapy-Nucleic Acids

The Berkeley Rudimentary Vision Test

(2012) Ian L. Bailey et al.   OPTOMETRY AND VISION SCIENCE

Antisense Oligonucleotide (AON)-based Therapy for Leber Congenital Amaurosis Caused by a Frequent Mutation in CEP290

(2012) Rob WJ Collin et al.   Molecular Therapy-Nucleic Acids

Development of the 25-item Cardiff Visual Ability Questionnaire for Children (CVAQC)

(2010) J. Khadka et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Ciliary Trafficking: CEP290 Guards a Gated Community

(2010) Ewelina Betleja et al.   CURRENT BIOLOGY

Genetic screening of LCA in Belgium: predominance of CEP290 and identification of potential modifier alleles in AHI1 of CEP290-related phenotypes

(2010) Frauke Coppieters et al.   HUMAN MUTATION

Psychophysical assessment of low visual function in patients with retinal degenerative diseases (RDDs) with the Diagnosys full-field stimulus threshold (D-FST)

(2009) M. Klein et al.   DOCUMENTA OPHTHALMOLOGICA

Gene Therapy for Leber's Congenital Amaurosis is Safe and Effective Through 1.5 Years After Vector Administration

(2009) Francesca Simonelli et al.   MOLECULAR THERAPY

Resolving the clinical acuity categories “hand motion” and “counting fingers” using the Freiburg Visual Acuity Test (FrACT)

(2008) C. Lange et al.   GRAEFES ARCHIVE FOR CLINICAL AND EXPERIMENTAL OPHTHALMOLOGY

Effect of Gene Therapy on Visual Function in Leber's Congenital Amaurosis

(2008) James W.B. Bainbridge et al.   NEW ENGLAND JOURNAL OF MEDICINE