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Molecular Genetics and Metabolism, ISSN 1096-7192, 05/2019, Volume 127, Issue 1, pp. 95 - 106
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 11/2018, Volume 33, Issue 13, pp. 837 - 850
Neuronal ceroid lipofuscinosis is a hereditary disease, and ceroid-lipofuscinosis neuronal protein 5 (CLN5) has been proved to be associated with neuronal... 
neuronal ceroid lipofuscinosis | gene mutation | CLN5 | GENOTYPE | JUVENILE-ONSET | PHENOTYPE | MECHANISMS | INFANTILE | CLINICAL NEUROLOGY | GENE | NCL | DISEASE | PEDIATRICS | PROTEIN CLN5 | INSIGHTS
Journal Article
Journal Article
Biochemical Society Transactions, ISSN 0300-5127, 2014, Volume 42, Issue 5, pp. 1282 - 1285
Journal Article
REVISTA DE NEUROLOGIA, ISSN 0210-0010, 02/2019, Volume 68, Issue 4, pp. 155 - 159
Introduction. CLN8 disease is one of the thirteen recognized genetic types of neuronal ceroid lipofuscinosis, a group of neurodegenerative lysosomal storage... 
NORTHERN EPILEPSY | DIAGNOSIS | Congenital phenotype | PROTEIN | Index case | GENETICS | Compound heterozygous mutation | MUTATIONS | Neuronal ceroid lipo-fuscinosis | CLN8 disease | CLINICAL NEUROLOGY | Latin America
Journal Article
Journal Article
Cell Stem Cell, ISSN 1934-5909, 2009, Volume 5, Issue 3, pp. 310 - 319
Journal Article