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PLoS ONE, ISSN 1932-6203, 06/2017, Volume 12, Issue 6, pp. e0178753 - e0178753
Loss of Norrin signalling due to mutations in the Norrie disease pseudoglioma gene causes severe vascular defects in the retina, leading to visual impairment... 
DIABETIC-RETINOPATHY | ANGIOGENESIS | GENE | MULTIDISCIPLINARY SCIENCES | PERICYTE MIGRATION | HYPOXIA | PREMATURITY | Angiography | Capillaries - pathology | Nerve Tissue Proteins - deficiency | Blindness - pathology | Spasms, Infantile - genetics | Nervous System Diseases - genetics | Neovascularization, Pathologic - etiology | Neovascularization, Pathologic - pathology | Cell Hypoxia | Retinal Vessels - pathology | Retinal Degeneration | Lasers | Retinal Vessels - diagnostic imaging | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Blindness - congenital | Eye Proteins - genetics | Nervous System Diseases - diagnostic imaging | Disease Models, Animal | Nervous System Diseases - pathology | Electroretinography | Nerve Tissue Proteins - physiology | Mice, Inbred C57BL | Spasms, Infantile - diagnostic imaging | Nerve Tissue Proteins - genetics | Blindness - genetics | Disease Progression | Mice, Knockout | Blindness - diagnostic imaging | Spasms, Infantile - pathology | Animals | Genetic Diseases, X-Linked - pathology | Eye Proteins - physiology | Mice | Ophthalmoscopy - methods | Homeostasis | Blood circulation disorders | Complications and side effects | Norrie disease | Research | Risk factors | Diabetic retinopathy | Disease | Impairment | Retina | Visual perception | Defects | Angiogenesis | Toxicology | Functional anatomy | Developmental stages | Neurodegeneration | Rodents | Abnormalities | Nutrition research | Signaling | Morphology | Blindness | Stem cells | Hypoxia | Diabetes | Mutation | Morphometry | Methods | Long-term effects | Integrity | Index Medicus | Life Sciences | Human health and pathology | Sensory Organs
Journal Article
Acta Neurochirurgica, ISSN 0001-6268, 12/2011, Volume 153, Issue 12, pp. 2365 - 2375
The aim of this study was to evaluate the anatomy of the central myelin portion and the central myelin-peripheral myelin transitional zone of the trigeminal,... 
Cranial nerve vascular compression syndromes | Hemifacial spasm | Neurosurgery | Vago-glossopharyngeal neuralgia | Anatomy | Neuroradiology | Neurology | Surgical Orthopedics | Trigeminal neuralgia | Medicine & Public Health | Minimally Invasive Surgery | Cranial nerves | Interventional Radiology | SURGERY | NEURALGIA | ROOT | DISABLING POSITIONAL VERTIGO | MICROVASCULAR DECOMPRESSION | SELECTION CRITERIA | CLINICAL NEUROLOGY | SEVERE TINNITUS | COCHLEAR NERVE | NEUROVASCULAR CONFLICT | SUPERIOR OBLIQUE MYOKYMIA | Glossopharyngeal Nerve Diseases - epidemiology | Vagus Nerve Diseases - epidemiology | Humans | Glossopharyngeal Nerve - physiology | Male | Vagus Nerve Diseases - physiopathology | Facial Nerve - physiology | Glossopharyngeal Nerve - cytology | Vagus Nerve - pathology | Rhombencephalon - cytology | Cranial Nerves - physiology | Radiculopathy - pathology | Glossopharyngeal Nerve Diseases - pathology | Nerve Fibers, Myelinated - pathology | Nerve Fibers, Myelinated - physiology | Aged, 80 and over | Radiculopathy - physiopathology | Female | Cranial Nerve Diseases - epidemiology | Cranial Nerve Diseases - physiopathology | Cranial Nerves - cytology | Radiculopathy - epidemiology | Vertebrobasilar Insufficiency - epidemiology | Glossopharyngeal Nerve Diseases - physiopathology | Trigeminal Neuralgia - epidemiology | Facial Nerve Diseases - epidemiology | Trigeminal Nerve - pathology | Trigeminal Neuralgia - physiopathology | Vertebrobasilar Insufficiency - complications | Facial Nerve Diseases - physiopathology | Vagus Nerve Diseases - pathology | Rhombencephalon - physiology | Syndrome | Vagus Nerve - physiology | Trigeminal Nerve - physiology | Facial Nerve Diseases - pathology | Cranial Nerves - physiopathology | Rhombencephalon - physiopathology | Trigeminal Neuralgia - pathology | Causality | Facial Nerve - pathology | Cranial Nerve Diseases - pathology | Medicine, Experimental | Comparative analysis | Medical research | Compression | Brain stem | Myelin | Facial nerve | Trigeminal nerve | Cadavers | Glossopharyngeal nerve | Skull | Neuralgia | Vagus nerve
Journal Article
World Neurosurgery, ISSN 1878-8750, 03/2019, Volume 123, pp. e252 - e258
To describe microsurgical anatomy of the rhomboid lip (RL) and to consider its role by presenting histology and clinical cases. We examined 10 (20 sides)... 
Rhomboid lip | Lower cranial nerves | Microvascular decompression | Lateral recess | SURGERY | HEMIFACIAL SPASM | 4TH-VENTRICLE | MICROSURGICAL ANATOMY | CLINICAL NEUROLOGY | Nervous system | Surgery | Formaldehyde
Journal Article
Journal Article
Rheumatic Disease Clinics of North America, ISSN 0889-857X, 02/2008, Volume 34, Issue 1, pp. 41 - 55
Journal Article
Clinical Chemistry and Laboratory Medicine (CCLM), ISSN 1434-6621, 01/2018, Volume 56, Issue 2, pp. 229 - 235
Background: Norrie disease (ND) is a rare X-linked disorder characterized by bilateral congenital blindness. ND is caused by a mutation in the Norrie disease... 
brain and cerebellar atrophy | contiguous gene syndrome | Norrie disease | psychomotor regression | monoamine oxidase | MICRODELETION | PHENOTYPE | FAMILY | DELETION | NDP GENE | PERSISTENT FETAL VASCULATURE | MISSENSE MUTATION | RETINOPATHY | PATIENT | MEDICAL LABORATORY TECHNOLOGY | PREMATURITY | Eye - pathology | Retinal Degeneration - diagnosis | Humans | Cerebral Cortex - pathology | Blindness - pathology | Child, Preschool | Male | Monoamine Oxidase - genetics | Spasms, Infantile - genetics | Nervous System Diseases - genetics | Nervous System Diseases - diagnosis | Gene Deletion | Genetic Diseases, X-Linked - diagnostic imaging | Genetic Diseases, X-Linked - genetics | Blindness - congenital | Spasms, Infantile - diagnosis | Eye Proteins - genetics | Biogenic Amines - cerebrospinal fluid | Nervous System Diseases - diagnostic imaging | Nervous System Diseases - pathology | Retinal Degeneration - genetics | Blindness - diagnosis | Spasms, Infantile - diagnostic imaging | Nerve Tissue Proteins - genetics | Blindness - genetics | Genetic Diseases, X-Linked - diagnosis | Cerebellum - pathology | Blindness - diagnostic imaging | Spasms, Infantile - pathology | Adolescent | Genetic Diseases, X-Linked - pathology | Retinal Degeneration - pathology | Neurotransmitter Agents - cerebrospinal fluid | Retinal Degeneration - diagnostic imaging | Cerebellum | Neuroimaging | Brain | Amines | Exons | Genes | Biochemistry | Cerebrospinal fluid | Males | Atrophy | Clonal deletion | Computed tomography | Coding | Genetic analysis | Deletion | Biogenic amines | Phenotypes | Medical imaging | Serotonin | Liquid chromatography | Catecholamine | High-performance liquid chromatography | Patients | Amine oxidase (flavin-containing) | Polymerase chain reaction | Neurology | DNA microarrays | Magnetic resonance imaging | Blindness | High performance liquid chromatography
Journal Article