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Journal Article
Journal Article
Journal Article
Neuron, ISSN 0896-6273, 04/2014, Volume 82, Issue 2, pp. 334 - 349
The ocular motility disorder “Congenital fibrosis of the extraocular muscles type 1” (CFEOM1) results from heterozygous mutations altering the motor and third... 
PROTEIN 1B | CONGENITAL FIBROSIS | KINESIN KIF21A | PERIPHERAL NERVOUS-SYSTEM | MAP1B | EXTRAOCULAR-MUSCLES TYPE-1 | NEURONS | GUIDANCE | DYSINNERVATION | MICROTUBULE DYNAMICS | NEUROSCIENCES | Age Factors | Microtubule-Associated Proteins - genetics | Embryo, Mammalian | Cell Count | Humans | Oculomotor Nerve - pathology | Green Fluorescent Proteins - genetics | Neural Pathways - pathology | Ocular Motility Disorders - genetics | Oculomotor Nerve - ultrastructure | Axons - ultrastructure | HEK293 Cells | Kinesin - genetics | Disease Models, Animal | Animals, Newborn | Green Fluorescent Proteins - metabolism | Fibrosis - genetics | Ocular Motility Disorders - pathology | Eye Diseases, Hereditary - pathology | Eye Movements - physiology | Eye Diseases, Hereditary - physiopathology | Fibrosis - physiopathology | Gene Expression Regulation - genetics | Mice, Transgenic | Mutation - genetics | Eye Diseases, Hereditary - genetics | Kinesin - metabolism | Microtubule-Associated Proteins - physiology | Eye Movements - genetics | Animals | Axons - pathology | Neural Pathways - metabolism | Mice | Ocular Motility Disorders - physiopathology | Fibrosis - pathology | Neural Pathways - ultrastructure | Neurosciences | Genetic aspects | Genetic disorders | Analysis | Proteins | Pathology | Motility | Pathogenesis | Neurons | Rodents | Mutation | Experiments | Index Medicus
Journal Article
Graefe's Archive for Clinical and Experimental Ophthalmology, ISSN 0721-832X, 10/2016, Volume 254, Issue 10, pp. 1951 - 1956
To describe congenital stationary night blindness (CSNB) with negative electroretinogram, hypoplastic discs, nystagmus and thinning of the inner nuclear layer... 
Optic disc hypoplasia | Full-field electroretinography | Congenital stationary night blindness | Ophthalmology | Medicine & Public Health | Optical coherence tomography | GENOTYPE | PHENOTYPE | OPHTHALMOLOGY | NYCTALOPIN | UPDATE | RICH | MUTATIONS | Retinal Bipolar Cells - pathology | Retinal Diseases - genetics | Diseases in Twins - genetics | Eye Abnormalities - diagnostic imaging | Frameshift Mutation | Humans | Nystagmus, Pathologic - genetics | Male | Retinal Diseases - diagnostic imaging | Dark Adaptation | Young Adult | Myopia - diagnosis | Polymerase Chain Reaction | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Retrospective Studies | Night Blindness - genetics | Visual Acuity - physiology | Genetic Diseases, X-Linked - physiopathology | Electroretinography | Myopia - diagnostic imaging | Eye Diseases, Hereditary - diagnostic imaging | Eye Diseases, Hereditary - physiopathology | Optic Disk - abnormalities | Tomography, Optical Coherence | Genotype | Nystagmus, Pathologic - physiopathology | Eye Abnormalities - genetics | Night Blindness - diagnostic imaging | Eye Diseases, Hereditary - genetics | Myopia - genetics | Myopia - physiopathology | Nystagmus, Pathologic - diagnosis | Pedigree | Night Blindness - physiopathology | TRPM Cation Channels - genetics | Eye Abnormalities - physiopathology | Consanguinity | Retinal Diseases - physiopathology | Genetic disorders | Index Medicus | Clinical Medicine | Medical and Health Sciences | Medicin och hälsovetenskap | Oftalmologi | Klinisk medicin
Journal Article
Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 12/2018, Volume 59, Issue 15, pp. 5726 - 5734
Journal Article
PLoS ONE, ISSN 1932-6203, 09/2015, Volume 10, Issue 9, pp. e0137072 - e0137072
Congenital stationary night blindness (CSNB) is a non-progressive, clinically and genetically heterogeneous disease of impaired night vision. We report a... 
METABOTROPIC GLUTAMATE-RECEPTOR | LIGHT RESPONSE | RABBIT RETINA | MULTIDISCIPLINARY SCIENCES | DEPOLARIZING BIPOLAR | SYNAPTIC-TRANSMISSION | ROD BIPOLAR CELLS | GENE-EXPRESSION | FRAMESHIFT MUTATION | RETINITIS-PIGMENTOSA | MAMMALIAN RETINA | RGS Proteins - genetics | Night Blindness - metabolism | Humans | Heterotrimeric GTP-Binding Proteins - metabolism | Male | Heterotrimeric GTP-Binding Proteins - genetics | Myopia - metabolism | Night Blindness - pathology | RGS Proteins - metabolism | Female | Genetic Diseases, X-Linked - genetics | Night Blindness - genetics | Genetic Diseases, X-Linked - physiopathology | Disease Models, Animal | Genetic Predisposition to Disease - genetics | Eye Diseases, Hereditary - pathology | Eye Diseases, Hereditary - physiopathology | Retina - physiopathology | Gene Expression Regulation | Retinal Cone Photoreceptor Cells - physiology | Proteoglycans - metabolism | Myopia - pathology | Presynaptic Terminals - physiology | Genetic Diseases, X-Linked - metabolism | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Calcium Channels, L-Type - genetics | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Dogs | Genetic Diseases, X-Linked - pathology | Presynaptic Terminals - metabolism | Calcium Channels, L-Type - metabolism | Retinal Cone Photoreceptor Cells - metabolism | Eye Diseases, Hereditary - metabolism | Proteoglycans - genetics | Immunohistochemistry | Veterinary colleges | Protein kinase C | Disease | Genes | Antibodies | Retina | Labelling | Rods | Nyctalopia | Veterinary medicine | Homozygosity | Modulators | Defects | Gene sequencing | Proteins | Signal transduction | Rodents | Bipolar cells | Synaptic ribbons | Dendrites | Terminals | University graduates | Night vision | Phenotypes | Congenital diseases | Immunomodulation | Gene expression | Electron microscopy | Spherules | Cones | Vision | Blindness | Photoreceptors | Mutation | Gene mapping | Stationary night blindness | Cellular structure | Pharmaceuticals | Index Medicus
Journal Article
British Journal of Ophthalmology, ISSN 0007-1161, 04/2016, Volume 100, Issue 4, pp. 495 - 500
BackgroundThe GNAT1 gene encodes the α subunit of the rod transducin protein, a key element in the rod phototransduction cascade. Variants in GNAT1 have been... 
Genetics | Retina | Degeneration | CGMP-PHOSPHODIESTERASE | NOUGARET FORM | DATABASE | TRANSDUCIN ALPHA-SUBUNIT | ROD TRANSDUCIN | RECESSIVE RETINITIS-PIGMENTOSA | OPHTHALMOLOGY | UPDATE | GENOME | STATIONARY NIGHT BLINDNESS | Humans | Middle Aged | Molecular Sequence Data | Eye Diseases, Hereditary - diagnosis | Male | Heterotrimeric GTP-Binding Proteins - genetics | Base Sequence | Myopia - diagnosis | Aged, 80 and over | Adult | Female | Genetic Diseases, X-Linked - genetics | Eye Proteins - genetics | Night Blindness - genetics | Retinitis Pigmentosa - physiopathology | Genetic Diseases, X-Linked - physiopathology | Siblings | Electroretinography | Amino Acid Sequence | Eye Diseases, Hereditary - physiopathology | Tomography, Optical Coherence | Night Blindness - diagnosis | Retina - physiopathology | Retinitis Pigmentosa - genetics | Codon, Nonsense | Genetic Diseases, X-Linked - diagnosis | Eye Diseases, Hereditary - genetics | Retinitis Pigmentosa - diagnosis | Myopia - genetics | DNA - isolation & purification | Myopia - physiopathology | Night Blindness - physiopathology | Aged | High-Throughput Nucleotide Sequencing | Genetically modified mice | Retinal degeneration | Care and treatment | Research | Gene mutations | Risk factors | Proteins | Diabetic retinopathy | Genes | Tomography | Photoreceptors | Mutation | Patients | Age | Deoxyribonucleic acid--DNA | Index Medicus | Clinical Science | 1506
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 2001, Volume 69, Issue 4, pp. 722 - 737
Journal Article