Associated Papers
Adult-onset autosomal recessive ataxia associated with neuronal ceroid lipofuscinosis type 5 gene (CLN5) mutations.
Mancini C et al.
Journal of Neurology, 2015
Update of the mutation spectrum and clinical correlations of over 360 mutations in eight genes that underlie the neuronal ceroid lipofuscinoses.
Kousi M et al.
Human Mutation, 2012
Palmitoyl:protein thioesterase (PPT1) inhibitors can act as pharmacological chaperones in infantile Batten disease.
Dawson G et al.
Biochemical and Biophysical Research Communications, 2010
Novel interactions of CLN5 support molecular networking between Neuronal Ceroid Lipofuscinosis proteins.
Lyly A et al.
Bmc Cell Biology, 2009
Diagnosis of neuronal ceroid lipofuscinosis: mutation detection strategies.
Getty AL et al.
Expert Opinion on Medical Diagnostics, 2007
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
Adult neuronal ceroid lipofuscinosis with palmitoyl-protein thioesterase deficiency: first adult-onset patients of a childhood disease.
van Diggelen OP et al.
Annals of Neurology, 2001
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