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index medicus (142) 142
membrane proteins - genetics (112) 112
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neuronal ceroid-lipofuscinoses - genetics (96) 96
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neuronal ceroid lipofuscinosis (62) 62
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The American Journal of Human Genetics, ISSN 0002-9297, 05/2011, Volume 88, Issue 5, pp. 566 - 573
Journal Article
Molecular therapy : the journal of the American Society of Gene Therapy, ISSN 1525-0016, 05/2018, Volume 26, Issue 5, p. 1343
Journal Article
Biochemical and Biophysical Research Communications, ISSN 0006-291X, 06/2017, Volume 487, Issue 4, pp. 917 - 922
Journal Article
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
PLoS ONE, ISSN 1932-6203, 03/2013, Volume 8, Issue 3, pp. e58644 - e58644
Journal Article
Journal Article