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Neurology, ISSN 0028-3878, 07/2012, Volume 79, Issue 2, pp. 183 - 191
Journal Article
Journal Article
Journal Article
Journal Article
Neurology India, ISSN 0028-3886, 05/2016, Volume 64, Issue 3, pp. 559 - 561
  A novel homozygous missense variation (chr15:68500605; A>G; c.809T>C) that results in the amino acid substitution of proline to leucine at codon 270... 
Neuronal Ceroid-Lipofuscinoses - genetics | Membrane Proteins - genetics | Humans | Electroencephalography | Neuronal Ceroid-Lipofuscinoses - physiopathology | Mutation | Child | Conflicts of interest | Genetic counseling | Age
Journal Article
Journal Article
The American Journal of Human Genetics, ISSN 0002-9297, 08/2011, Volume 89, Issue 2, pp. 241 - 252
Journal Article
Journal of Child Neurology, ISSN 0883-0738, 9/2013, Volume 28, Issue 9, pp. 1137 - 1141
We examined flurothyl gas–induced seizure latencies and phenotype in 2 mouse models of neuronal ceroid lipofuscinoses: the nclf (Cln6 mutant) variant... 
epilepsy | seizure induction latencies | neuronal ceroid lipof