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Journal Article
BMC Medical Genetics, ISSN 1471-2350, 10/2018, Volume 19, Issue 1, pp. 177 - 177
Background: Neuronal ceroid lipofuscinosis (NCLs) are lysosomal storage disorders characterized by seizures, motor impairment, and loss of vision. Ceroid... 
Neuronal ceroid lipofuscinosis | Neurodegeneration | Endoplasmic reticulum | CLN6 | Lysosomal storage disorder | GENOTYPE | DISEASE | GENETICS & HEREDITY | PHENOTYPE | TRANSMEMBRANE PROTEIN | Leukoencephalopathies - genetics | Seizures - genetics | Humans | Leukoencephalopathies - diagnostic imaging | Neuronal Ceroid-Lipofuscinoses - ethnology | Child, Preschool | Male | Electroencephalography | Neuronal Ceroid-Lipofuscinoses - physiopathology | Mutation, Missense | Seizures - ethnology | Leukoencephalopathies - physiopathology | Seizures - diagnostic imaging | Seizures - physiopathology | Neuronal Ceroid-Lipofuscinoses - genetics | Base Sequence | Protein Domains | Adult | Female | Diagnosis, Differential | Gene Expression | Membrane Proteins - genetics | Neuronal Ceroid-Lipofuscinoses - diagnostic imaging | Homozygote | Magnetic Resonance Imaging | Asian Continental Ancestry Group | Pedigree | Heterozygote | Leukoencephalopathies - ethnology | Case studies | Rare diseases | Genetic research | Neuronal ceroid-lipofuscinosis | Gene mutations | Pediatric research | Genetic aspects | Seizures (Medicine) | Diagnosis | Neurons | Epilepsy | Cerebellum | Neuroimaging | Disease | Gait | Genes | Lysosomal storage diseases | Leukoencephalopathy | Proteins | Atrophy | Genotype & phenotype | Parents & parenting | Convulsions & seizures | Missense mutation | Ataxia | Horns | Ventricle (lateral) | Genotypes | Seizures | EEG | Case reports | C-Terminus | Membrane proteins | Magnetic resonance imaging | Sodium | Point mutation | Mutation | Sodium valproate | Speech disorders | Index Medicus
Journal Article
Arquivos de neuro-psiquiatria, ISSN 0004-282X, 06/2007, Volume 65, Issue 2A, p. 320
The neuronal ceroid lipofuscinoses (NCL) are a group of neurodegenerative disorders, characterized by abnormal storage of an autofluorescent substance of... 
Protons | Magnetic Resonance Spectroscopy - methods | Biopsy | Humans | Adolescent | Adult | Male | Tomography, X-Ray Computed | Electroencephalography | Child | Neuronal Ceroid-Lipofuscinoses - diagnostic imaging | Neuronal Ceroid-Lipofuscinoses - pathology
Journal Article
Journal of the American Animal Hospital Association, ISSN 0587-2871, 1999, Volume 35, Issue 5, pp. 430 - 435
A two-year and seven-month-old, castrated male border collie was presented for a two-month history of progressive neurological signs including blindness,... 
DISORDERS | VETERINARY SCIENCES | STORAGE DISEASES | MRI | Diagnosis, Differential | Animals | Dogs | Fatal Outcome | Neuronal Ceroid-Lipofuscinoses - veterinary | Male | Tomography, X-Ray Computed | Neuronal Ceroid-Lipofuscinoses - diagnostic imaging | Dog Diseases - diagnostic imaging
Journal Article
Journal Article
Neuropediatrics, ISSN 0174-304X, 1990, Volume 21, Issue 2, pp. 95 - 101
Forty patients suffering from neuronal ceroid lipofuscinosis, 33 of the juvenile type (JNCL) and 7 of the infantile type (INCL), underwent a brain CT. All INCL... 
Cerebral computed tomography (CT) | Neuronal ceroid lipofuscinoses (NCL) | PEDIATRICS | CLINICAL NEUROLOGY | Humans | Adolescent | Child, Preschool | Adult | Female | Infant | Male | Tomography, X-Ray Computed | Neuronal Ceroid-Lipofuscinoses - physiopathology | Child | Neuronal Ceroid-Lipofuscinoses - diagnostic imaging
Journal Article
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