NCL diseases — clinical perspectives

Strikingly Different Clinicopathological Phenotypes Determined by Progranulin-Mutation Dosage

Katherine R. Smith, John A. Damiano, Silvana Franceschetti et al. · The American Journal of Human Genetics · 2012 · 492 citations · Full text

Life Sciences, Genetics, Neurology +17

Cathepsin D deficiency underlies congenital human neuronal ceroid-lipofuscinosis

Eija Siintola · Brain · 2006 · 392 citations · Full text

Life Sciences, Genetics, Molecular Genetics +16

Mutation of the parkinsonism gene ATP13A2 causes neuronal ceroid-lipofuscinosis

José Brás, Alain Verloès, Susanne A. Schneider et al. · Human Molecular Genetics · 2012 · 265 citations · Full text

Life Sciences, Genetics, Neuroscience +17

Mutations in DNAJC5, Encoding Cysteine-String Protein Alpha, Cause Autosomal-Dominant Adult-Onset Neuronal Ceroid Lipofuscinosis

Lenka Nosková, Viktor Stránecký, Hana Hartmannová et al. · The American Journal of Human Genetics · 2011 · 262 citations · Full text

Life Sciences, Genetics, Molecular Genetics +17

New nomenclature and classification scheme for the neuronal ceroid lipofuscinoses

Ruth Williams, Sara Mole · Neurology · 2012 · 235 citations

Medicine, Neurology, Neuroscience +7