Reevaluation of Neuronal Ceroid Lipofuscinoses: Atypical Juvenile Onset May Be the Result of CLN2 Mutations
- 30 April 1999
- journal article
- case report
- Published by Elsevier in Molecular Genetics and Metabolism
- Vol. 66 (4) , 248-252
- https://doi.org/10.1006/mgme.1999.2814
Abstract
No abstract availableKeywords
This publication has 16 references indexed in Scilit:
- Late Infantile Neuronal Ceroid Lipofuscinosis Is Due to Splicing Mutations in the CLN2 GeneMolecular Genetics and Metabolism, 1999
- Genotype–Phenotype Correlations in Neuronal Ceroid Lipofuscinosis Due to Palmitoyl-Protein Thioesterase DeficiencyMolecular Genetics and Metabolism, 1999
- Two common mutations in the CLN2 gene underlie late infantile neuronal ceroid lipoluscinosisClinical Genetics, 1998
- Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.Journal of Clinical Investigation, 1998
- Studies of atypical JNCL suggest overlapping with other NCL formsPediatric Neurology, 1998
- Compound heterozygous genotype is associated with protracted juvenile neuronal ceroid lipofuscinosisAnnals of Neurology, 1998
- Association of Mutations in a Lysosomal Protein with Classical Late-Infantile Neuronal Ceroid LipofuscinosisScience, 1997
- Spectrum of Mutations in the Batten Disease Gene, CLN3American Journal of Human Genetics, 1997
- Isolation of a novel gene underlying batten disease, CLN3Cell, 1995
- Mutations in the palmitoyl protein thioesterase gene causing infantile neuronal ceroid lipofuscinosisNature, 1995