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JAMA Ophthalmology, ISSN 2168-6165, 04/2018, Volume 136, Issue 4, pp. 389 - 398
IMPORTANCE: Congenital stationary night blindness (CSNB) implies a stable condition, with the major symptom being nyctalopia present at birth. Pediatric... 
TRPM1 MUTATIONS | COMPLETE FORM | DENDRITIC TIPS | AMAUROSIS | CHANNEL | ELECTRORETINOGRAM | OPHTHALMOLOGY | HIGH MYOPIA | NYCTALOPIN | GENE-THERAPY | ACQUIRED NYSTAGMUS | Online First | Original Investigation | Research
Journal Article
The Journal of neuroscience : the official journal of the Society for Neuroscience, ISSN 0270-6474, 7/2011, Volume 31, Issue 27, pp. 10060 - 10066
Expression of channels to specific neuronal sites can critically impact their function and regulation. Currently, the molecular mechanisms underlying this... 
TRPM1 | depolarizing bipolar cell | retina | dendritic targeting | nyctalopin
Journal Article
Journal of Comparative Neurology, ISSN 0021-9967, 01/2019, Volume 527, Issue 1, pp. 52 - 66
Journal Article
Cell Reports, ISSN 2211-1247, 03/2018, Volume 22, Issue 13, pp. 3562 - 3573
Cone photoreceptors scale dynamically the sensitivity of responses to maintain responsiveness across wide range of changes in luminance. Synaptic changes... 
synaptic transmission | cone photoreceptors | ON-bipolar neurons | G protein coupled receptors | leucine-rich repeat proteins | TRANSDUCTION CASCADE | SALAMANDER | CELLS | TRANSMISSION | ROD | SENSITIVITY | NYCTALOPIN | RETINA | LIGHT ADAPTATION | MOLECULAR-MECHANISMS | CELL BIOLOGY
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 02/2012, Volume 90, Issue 2, pp. 331 - 339
Complete congenital stationary night blindness (cCSNB) is a clinically and genetically heterogeneous group of retinal disorders characterized by nonprogressive... 
COMPLETE FORM | LIGHT RESPONSE | CHANNEL | MGLUR6 | SYNAPTIC-TRANSMISSION | MOUSE MODEL | GENETICS & HEREDITY | NYCTALOPIN | RICH REPEAT PROTEIN | MUTATIONS | CONE ELECTRORETINOGRAM | Electroretinography - methods | Night Blindness - metabolism | Humans | Dark Adaptation - genetics | Retinal Rod Photoreceptor Cells - metabolism | Gene Knockdown Techniques - methods | Myopia - metabolism | Receptors, Metabotropic Glutamate - genetics | Retinal Bipolar Cells - physiology | Chromosome Mapping - methods | Genetic Diseases, X-Linked | Night Blindness - genetics | Retinal Bipolar Cells - metabolism | Eye Diseases, Hereditary | Signal Transduction | Mice, Inbred C57BL | Zebrafish | Mice, Inbred C3H | Myopia - genetics | Animals | Myopia - physiopathology | Pedigree | Night Blindness - physiopathology | Retinal Rod Photoreceptor Cells - physiology | Heterozygote | Mice | Receptors, G-Protein-Coupled - genetics | Mutation | Chromosome mapping | Usage | Gene mutations | Retinal bipolar cells | Causes of | Physiological aspects | Night blindness | Genetic aspects | Research | Analysis | Genetic disorders | Proteins | Rodents | Blindness | Gene expression | Cells | Index Medicus | Animal models | Antibodies | Insertion | stationary night blindness | Retina | Guanine nucleotide-binding protein | Electroretinograms | Depolarization | Signal transduction | Vision | Bipolar cells | Gene mapping | DNA sequencing | Report
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 10/2013, Volume 8, Issue 10, pp. e78280 - e78280
Journal Article
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, 11/2013, Volume 54, Issue 13, pp. 8041 - 8050
Journal Article