Neuronal ceroid lipofuscinoses (NCL)
Author:
Publisher
Elsevier BV
Subject
Clinical Neurology,General Medicine,Pediatrics, Perinatology, and Child Health
Reference22 articles.
1. Infantile form of neuronal ceroid lipofuscinosis (CLN1) maps to the short arm of chromosome 1;Järvelä;Genomics,1991
2. Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosis;Vesa;Nature,1995
3. Molecular genetics of palmitoyl-protein thioesterase deficiency in the US;Das;J Clin Invest,1998
4. Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits;Mitchison;Hum Mol Genet,1998
5. Pre- and postnatal enzyme analysis for infantile, late infantile and adult neuronal ceroid lipofuscinosis (CLN1 and CLN2);van Diggelen;Eur J Paediatr Neurol,2001
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2. Btn2, a Hook1 Ortholog and Potential Batten Disease-Related Protein, Mediates Late Endosome-Golgi Protein SortinginYeast;Molecular and Cellular Biology;2007-01-15
3. Murine Cathepsin F Deficiency Causes Neuronal Lipofuscinosis and Late-Onset Neurological Disease;Molecular and Cellular Biology;2006-03-15
4. Correlations between genotype, ultrastructural morphology and clinical phenotype in the neuronal ceroid lipofuscinoses;Neurogenetics;2005-06-18
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