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Investigative Ophthalmology and Visual Science, ISSN 0146-0404, 10/2011, Volume 52, Issue 11, pp. 7981 - 7986
Journal Article
Veterinary Medicine : Research and Reports, ISSN 2230-2034, 03/2016, Volume 2016, Issue Issue 1, pp. 41 - 51
Anna Palanova Department of Tumor Biology, Institute of Animal Physiology and Genetics, v. v. i., Academy of Sciences of the Czech Republic, Libechov, Czech... 
hereditary retinal disease | dog
Journal Article
INVESTIGATIVE OPHTHALMOLOGY & VISUAL SCIENCE, ISSN 0146-0404, 04/2014, Volume 55, Issue 13
Conference Proceeding
PLoS ONE, ISSN 1932-6203, 06/2013, Volume 8, Issue 6, pp. e65574 - e65574
Background: Retinal dystrophies (RD) are a group of hereditary diseases that lead to debilitating visual impairment and are usually transmitted as a Mendelian... 
LEBER CONGENITAL AMAUROSIS | RP1 | GENE | USHER-SYNDROME | MULTIDISCIPLINARY SCIENCES | RECESSIVE RETINITIS-PIGMENTOSA | GENOTYPING MICROARRAY | MODIFIER ALLELES | MUTATIONS | IDENTIFICATION | SPANISH FAMILIES | Genetic Predisposition to Disease - genetics | Extracellular Matrix Proteins - genetics | Humans | Cyclic Nucleotide-Gated Cation Channels - genetics | Retinitis Pigmentosa - genetics | Male | Leber Congenital Amaurosis - genetics | Spain | Exome - genetics | ATP-Binding Cassette Transporters - genetics | Usher Syndromes - genetics | Pedigree | Adaptor Proteins, Signal Transducing - genetics | Nicotinamide-Nucleotide Adenylyltransferase - genetics | Female | Eye Proteins - genetics | Retinal Dystrophies - genetics | Genetic aspects | Genetic disorders | Disease transmission | Nucleotide sequencing | Genes | DNA sequencing | USH2A protein | Retinitis pigmentosa | Retina | Identification | Genomes | Hybridization | Medical diagnosis | Gene sequencing | Genetics | Diagnosis | Genotypes | Deoxyribonucleic acid--DNA | Visually handicapped people | Data analysis | Congenital diseases | Data processing | Patients | Hereditary diseases | Studies | Blindness | Acetylcholine receptors | Diagnostic systems | Retinitis | Mutation | Dystrophy | Genetic testing | Cost analysis | Index Medicus | Deoxyribonucleic acid | DNA
Journal Article
Proceedings of the National Academy of Sciences of the United States of America, ISSN 0027-8424, 11/2009, Volume 106, Issue 46, pp. 19581 - 19586
Journal Article
Journal Article
PLoS ONE, ISSN 1932-6203, 01/2014, Volume 9, Issue 1, pp. e86769 - e86769
Light-dependent conductance changes of voltage-gated Ca(v)1.4 channels regulate neurotransmitter release at photoreceptor ribbon synapses. Mutations in the... 
CACNA1F MUTATION | CELLS | LOCALIZATION | CALCIUM-CHANNELS | GENE | ROD | MULTIDISCIPLINARY SCIENCES | SYNAPTIC-TRANSMISSION | RAT RETINA | LINKED RETINAL DISORDER | RIBBON SYNAPSES | Electroretinography - methods | Membrane Potentials - genetics | Calcium Channels - metabolism | Calcium - metabolism | Night Blindness - metabolism | Male | Synapses - genetics | Retinal Rod Photoreceptor Cells - metabolism | Retinal Degeneration - metabolism | Myopia - metabolism | Synapses - metabolism | Female | Genetic Diseases, X-Linked - genetics | Models, Animal | Calcium Channels - genetics | Night Blindness - genetics | Retinal Degeneration - genetics | Genetic Diseases, X-Linked - metabolism | Mutation - genetics | Eye Diseases, Hereditary - genetics | Myopia - genetics | Animals | Mice | Retinal Horizontal Cells - metabolism | Longitudinal Studies | Eye Diseases, Hereditary - metabolism | Physiological aspects | Genetic aspects | Genetic disorders | Animal models | Night | Laboratories | Biology | Nyctalopia | Channels | Calcium influx | Depolarization | Proteins | Synaptic ribbons | Physiology | Degeneration | Gating | Age | Neurotransmitter release | Channel gating | Calcium channels (voltage-gated) | Mutants | Resistance | Correlation analysis | Blindness | Retinal degeneration | Photoreceptors | Conductance | Mutation | Stationary night blindness | Synapses | Index Medicus
Journal Article
Human Molecular Genetics, ISSN 0964-6906, 03/2014, Volume 23, Issue 6, pp. 1538 - 1550
Journal Article
14.