title: Early infantile neuronal ceroid lipofuscinosis (CLN10 disease) associated with a novel mutation in CTSD.
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Doccini
authors.affiliation: Child Neurology, Paediatric University Hospital, Padua, Italy.
authors.forename: Stefano
authors.initials: S
authors.lastname: Sartori
authors.affiliation: Steinbeis Center for Biopolymer Analysis and Biomedical Mass Spectrometry, Russelsheim am Main, Germany.
authors.forename: Stefan
authors.initials: S
authors.lastname: Maeser
authors.affiliation: Neurology-Child Neurology and Psychiatry, Department of Neuroscience, Biomedicine and Movement, University of Verona, Policlinico GB Rossi, P.le LA Scuro, 37134, Verona, Italy.
authors.forename: Francesco
authors.initials: F
authors.lastname: Pezzini
authors.affiliation: Child Neurology, Paediatric University Hospital, Padua, Italy.
authors.forename: Sara
authors.initials: S
authors.lastname: Rossato
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy.
authors.forename: Francesca
authors.initials: F
authors.lastname: Moro
authors.affiliation: Child Neurology, Paediatric University Hospital, Padua, Italy.
authors.forename: Irene
authors.initials: I
authors.lastname: Toldo
authors.affiliation: Steinbeis Center for Biopolymer Analysis and Biomedical Mass Spectrometry, Russelsheim am Main, Germany.
authors.forename: Michael
authors.initials: M
authors.lastname: Przybylski
authors.affiliation: Molecular Medicine, IRCCS Stella Maris, via dei Giacinti 2, 56128, Pisa, Italy. filippo3364@gmail.com.
authors.forename: Filippo M
authors.initials: FM
authors.lastname: Santorelli
authors.affiliation: Neurology-Child Neurology and Psychiatry, Department of Neuroscience, Biomedicine and Movement, University of Verona, Policlinico GB Rossi, P.le LA Scuro, 37134, Verona, Italy. alessandro.simonati@univr.it.
authors.forename: Alessandro
authors.initials: A
authors.lastname: Simonati
mesh_terms: D001921:Brain / Q000000981:diagnostic imaging; D002402:Cathepsin D / Q000172:deficiency* / Q000235:genetics; D003937:Diagnosis, Differential; D005260:Female; D006801:Humans; D009154:Mutation; D009472:Neuronal Ceroid-Lipofuscinoses / Q000000981:diagnostic imaging / Q000235:genetics*; D010641:Phenotype
chemical_list: C533922:CTSD protein, human; D002402:Cathepsin D