Associated Papers
Clinical and Genetic Spectrum of Patients with Pediatric-Onset Epilepsy: Insights from a Single-Center Study.
Tozkir H et al.
Genes, 2025
Glycosylation, transport, and complex formation of palmitoyl protein thioesterase 1 (PPT1)--distinct characteristics in neurons.
Lyly A et al.
Bmc Cell Biology, 2007
Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses.
Mole SE et al.
Neurogenetics, 2005
The genetic spectrum of human neuronal ceroid-lipofuscinoses.
Mole SE
Brain Pathology (zurich, Switzerland), 2004
Identification of three novel mutations of the palmitoyl-protein thioesterase-1 (PPT1) gene in children with neuronal ceroid-lipofuscinosis.
Waliany S et al.
Human Mutation, 2000
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