Novel mutations in the gene for α-subunit of retinal cone cyclic nucleotide-gated channels in a Japanese patient with congenital achromatopsia

Novel CNGA3 mutations in Chinese patients with achromatopsia

(2015) Xiaofang Liang et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Mutations in the unfolded protein response regulator ATF6 cause the cone dysfunction disorder achromatopsia

(2015) Susanne Kohl et al.   NATURE GENETICS

Congenital Achromatopsia and Macular Atrophy Caused by a Novel RecessivePDE6CMutation (p.E591K)

(2015) Satoshi Katagiri et al.   OPHTHALMIC GENETICS

Genetics and Disease Expression in the CNGA3 Form of Achromatopsia

(2015) Lina Zelinger et al.   OPHTHALMOLOGY

ISCEV Standard for full-field clinical electroretinography (2015 update)

(2014) Daphne L. McCulloch et al.   DOCUMENTA OPHTHALMOLOGICA

Endoplasmic Reticulum-associated Degradation of Niemann-Pick C1

(2014) Naoe Nakasone et al.   JOURNAL OF BIOLOGICAL CHEMISTRY

Identification ofCNGA3Mutations in 46 Families

(2014) Shiqiang Li et al.   JAMA Ophthalmology

Spectral-Domain Optical Coherence Tomography Staging and Autofluorescence Imaging in Achromatopsia

(2014) Jonathan P. Greenberg et al.   JAMA Ophthalmology

Diagnostic Fundus Autofluorescence Patterns in Achromatopsia

(2013) Abigail T. Fahim et al.   AMERICAN JOURNAL OF OPHTHALMOLOGY

Retinal Structure and Function in Achromatopsia

(2013) Venki Sundaram et al.   OPHTHALMOLOGY

A Nonsense Mutation in PDE6H Causes Autosomal-Recessive Incomplete Achromatopsia

(2012) Susanne Kohl et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Early signs of longitudinal progressive cone photoreceptor degeneration in achromatopsia

(2012) Mervyn George Thomas et al.   BRITISH JOURNAL OF OPHTHALMOLOGY

Whole-exome sequencing identifiesALMS1, IQCB1, CNGA3, andMYO7Amutations in patients with leber congenital amaurosis

(2011) Xia Wang et al.   HUMAN MUTATION

Genetic analysis of four Pakistani families with achromatopsia and a novel S4 motif mutation of CNGA3

(2011) Muhammad Arif Nadeem Saqib et al.   JAPANESE JOURNAL OF OPHTHALMOLOGY

Oligocone trichromacy is part of the spectrum ofCNGA3-related cone system disorders

(2011) Ajoy Vincent et al.   OPHTHALMIC GENETICS

The bisretinoids of retinal pigment epithelium

(2011) Janet R. Sparrow et al.   PROGRESS IN RETINAL AND EYE RESEARCH

Dissecting the pathogenic mechanisms of mutations in the pore region of the human cone photoreceptor cyclic nucleotide-gated channel

(2010) Katja Koeppen et al.   HUMAN MUTATION

Comprehensive Analysis of the Achromatopsia Genes CNGA3 and CNGB3 in Progressive Cone Dystrophy

(2010) Alberta A.H.J. Thiadens et al.   OPHTHALMOLOGY

Electroretinograms in patients with achromatopsia

(2009) Sten Andréasson et al.   ACTA OPHTHALMOLOGICA

Homozygosity Mapping Reveals PDE6C Mutations in Patients with Early-Onset Cone Photoreceptor Disorders

(2009) Alberta A.H.J. Thiadens et al.   AMERICAN JOURNAL OF HUMAN GENETICS

Mutations in CNGA3 impair trafficking or function of cone cyclic nucleotide-gated channels, resulting in achromatopsia

(2008) Peggy Reuter et al.   HUMAN MUTATION