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BBA - Molecular Basis of Disease, ISSN 0925-4439, 03/2018, Volume 1864, Issue 3, pp. 746 - 757
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
Journal Article
Journal Article
Annual Review of Nutrition, ISSN 0199-9885, 08/2011, Volume 31, Issue 1, pp. 321 - 351
Journal Article
by Xu, WR and Zhao, JL and Zhu, YC and Zhang, WH
MEDICINE, ISSN 0025-7974, 01/2017, Volume 96, Issue 1, pp. e5545 - e5545
Rational: Cerebroretinal microangiopathy with calcifications and cysts (CRMCC) is believed to be an autosomal recessive genetic disease, with disorders in... 
inherited diseases | CTC1 | cerebral calcification | cerebroretinal microangiopathy with calcifications and cysts | COMPONENT 1 | MEDICINE, GENERAL & INTERNAL | DISEASE | leukoencephalopathy | DISORDER | case report | MUTATIONS | Calcinosis - genetics | Aftercare - methods | Retinal Diseases - genetics | Brain - diagnostic imaging | Calcinosis - diagnosis | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Humans | Brain Neoplasms - physiopathology | Retinal Diseases - therapy | Leukoencephalopathies - physiopathology | Proton Magnetic Resonance Spectroscopy - methods | Muscle Spasticity - therapy | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Leukoencephalopathies - diagnosis | Adult | Central Nervous System Cysts - diagnosis | Female | Ataxia - genetics | Central Nervous System Cysts - therapy | Neuroimaging - methods | Ataxia - physiopathology | Ataxia - therapy | Diagnosis, Differential | Retinal Diseases - diagnosis | Brain Neoplasms - diagnosis | Brain Neoplasms - genetics | Seizures - diagnosis | Seizures - therapy | Ataxia - diagnosis | Disease Progression | Central Nervous System Cysts - genetics | Calcinosis - therapy | Brain Neoplasms - therapy | Brain - pathology | Muscle Spasticity - diagnosis | Leukoencephalopathies - therapy | Disease Management | Muscle Spasticity - physiopathology | Mutation | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Care and treatment | Usage | Vasculitis | Diagnosis | Cysts | Lasers in surgery | Index Medicus | Abridged Index Medicus
Journal Article
Journal of the Neurological Sciences, ISSN 0022-510X, 11/2017, Volume 382, pp. 142 - 145
Coats plus syndrome is a recently described, very rare multisystem disorder. The clinical phenotype is wide and variable, which making the diagnosis more... 
CTC1 | Coats plus syndrome | Calcification | Intracranial | Cysts | Leukoencephalopathy | CEREBRAL MICROANGIOPATHY | DEFECTS | TELOMERE MAINTENANCE | CEREBRORETINAL MICROANGIOPATHY | MAINTENANCE COMPONENT 1 | NEUROSCIENCES | CLINICAL NEUROLOGY | DISORDER | BINDING | CALCIFICATIONS | Calcinosis - genetics | Retinal Diseases - genetics | Leukoencephalopathies - genetics | Central Nervous System Cysts - physiopathology | Seizures - genetics | Brain Neoplasms - diagnostic imaging | Humans | Leukoencephalopathies - diagnostic imaging | Asian Continental Ancestry Group - genetics | Brain Neoplasms - pathology | Brain Neoplasms - physiopathology | Calcinosis - diagnostic imaging | Mutation, Missense | Retinal Diseases - diagnostic imaging | Leukoencephalopathies - physiopathology | Seizures - diagnostic imaging | Young Adult | Seizures - physiopathology | Telomere-Binding Proteins - genetics | Seizures - pathology | China | Retinal Diseases - pathology | Ataxia - diagnostic imaging | Female | Ataxia - genetics | Ataxia - pathology | Ataxia - physiopathology | Leukoencephalopathies - pathology | Brain Neoplasms - genetics | Central Nervous System Cysts - diagnostic imaging | Muscle Spasticity - pathology | Central Nervous System Cysts - pathology | Central Nervous System Cysts - genetics | Family | Muscle Spasticity - physiopathology | Muscle Spasticity - diagnostic imaging | Calcinosis - pathology | Retinal Diseases - physiopathology | Muscle Spasticity - genetics | Calcinosis - physiopathology | Genetic research | Telomeres | Genetic aspects | Genes | Medical research | Medicine, Experimental | Index Medicus
Journal Article
Retina, ISSN 0275-004X, 11/2011, Volume 31, Issue 10, pp. 2109 - 2114
Journal Article
Journal Article