Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially mi...
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
About this item
Full title
Author / Creator
Jedličková, Ivana , Cadieux-Dion, Maxime , Přistoupilová, Anna , Stránecký, Viktor , Hartmannová, Hana , Hodaňová, Kateřina , Barešová, Veronika , Hůlková, Helena , Sikora, Jakub , Nosková, Lenka , Mušálková, Dita , Vyleťal, Petr , Sovová, Jana , Cossette, Patrick , Andermann, Eva , Andermann, Frederick , Kmoch, Stanislav , Adult NCL Gene Discovery Consortium and The Adult NCL Gene Discovery Consortium
Publisher
England: Nature Publishing Group
Journal title
Language
English
Formats
Publication information
Publisher
England: Nature Publishing Group
Subjects
More information
Scope and Contents
Contents
Adult-onset neuronal ceroid lipofuscinoses (ANCL, Kufs disease) are rare hereditary neuropsychiatric disorders characterized by intralysosomal accumulation of ceroid in tissues. The ceroid accumulation primarily affects the brain, leading to neuronal loss and progressive neurodegeneration. Although several causative genes have been identified (DNAJ...
Alternative Titles
Full title
Autosomal-dominant adult neuronal ceroid lipofuscinosis caused by duplication in DNAJC5 initially missed by Sanger and whole-exome sequencing
Authors, Artists and Contributors
Author / Creator
Cadieux-Dion, Maxime
Přistoupilová, Anna
Stránecký, Viktor
Hartmannová, Hana
Hodaňová, Kateřina
Barešová, Veronika
Hůlková, Helena
Sikora, Jakub
Nosková, Lenka
Mušálková, Dita
Vyleťal, Petr
Sovová, Jana
Cossette, Patrick
Andermann, Eva
Andermann, Frederick
Kmoch, Stanislav
Adult NCL Gene Discovery Consortium
The Adult NCL Gene Discovery Consortium
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7253421
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_pubmedcentral_primary_oai_pubmedcentral_nih_gov_7253421
Other Identifiers
ISSN
1018-4813
E-ISSN
1476-5438
DOI
10.1038/s41431-019-0567-2
