Associated Papers
Pre-clinical Mouse Models of Neurodegenerative Lysosomal Storage Diseases.
Favret JM et al.
Frontiers in Molecular Biosciences, 2020
The neuronal ceroid-lipofuscinoses.
Bennett MJ et al.
Developmental Disabilities Research Reviews, 2013
An integrated strategy for the diagnosis of neuronal ceroid lipofuscinosis types 1 (CLN1) and 2 (CLN2) in eleven Latin American patients.
Kohan R et al.
Clinical Genetics, 2009
Gene symbol: TPP1. Disease: Neuronal Ceroid Lipofuscinosis, late infantile.
Kohan R et al.
Human Genetics, 2008
[Two novel mutations in palmitoyl-protein thioesterase gene in two Chinese babies with infantile neuronal ceroid lipofuscinosis].
Bi HY et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2006
[From gene to disease; from CLN1, CLN2 and CLN3 to neuronal ceroid lipofuscinosis].
Taschner PE et al.
Nederlands Tijdschrift Voor Geneeskunde, 2005
Detection of eight novel palmitoyl protein thioesterase (PPT) mutations underlying infantile neuronal ceroid lipofuscinosis (INCL;CLN1).
Salonen T et al.
Human Mutation, 2000
First-trimester diagnosis of infantile neuronal ceroid lipofuscinosis (INCL) using PPT enzyme assay and CLN1 mutation analysis.
de Vries BB et al.
Prenatal Diagnosis, 1999
Molecular genetics of palmitoyl-protein thioesterase deficiency in the U.S.
Das AK et al.
The Journal of Clinical Investigation, 1998
Mutations in the palmitoyl-protein thioesterase gene (PPT; CLN1) causing juvenile neuronal ceroid lipofuscinosis with granular osmiophilic deposits.
Mitchison HM et al.
Human Molecular Genetics, 1998
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