CLN6‐related continuum phenotype caused by aberrant splicing
CLN6‐related continuum phenotype caused by aberrant splicing
About this item
Full title
Author / Creator
Invernizzi, Federica , Castellotti, Barbara , Reale, Chiara , Panteghini, Celeste , Colangelo, Isabel , Solazzi, Roberta , Ragona, Francesca , Giordano, Lucio , Galli, Jessica , Rossi Sebastiano, Davide , Marucci, Gianluca , Cuccarini, Valeria , Didato, Giuseppe , Gellera, Cinzia , Garavaglia, Barbara , Granata, Tiziana and Canafoglia, Laura
Publisher
United States: John Wiley & Sons, Inc
Journal title
Language
English
Formats
Publication information
Publisher
United States: John Wiley & Sons, Inc
Subjects
More information
Scope and Contents
Contents
Neuronal ceroid lipofuscinoses (NCLs) are genetically heterogeneous neurodegenerative disorders, characterized by progressive cognitive and motor decline, epilepsy, visual impairment, and shortened life‐expectancy. CLN6‐related NCLs include both late‐infantile and adult myoclonic form. We report a 21‐year‐old patient, with mild developmental delay,...
Alternative Titles
Full title
CLN6‐related continuum phenotype caused by aberrant splicing
Authors, Artists and Contributors
Author / Creator
Castellotti, Barbara
Reale, Chiara
Panteghini, Celeste
Colangelo, Isabel
Solazzi, Roberta
Ragona, Francesca
Giordano, Lucio
Galli, Jessica
Rossi Sebastiano, Davide
Marucci, Gianluca
Cuccarini, Valeria
Didato, Giuseppe
Gellera, Cinzia
Garavaglia, Barbara
Granata, Tiziana
Canafoglia, Laura
Identifiers
Primary Identifiers
Record Identifier
TN_cdi_doaj_primary_oai_doaj_org_article_8aebcdaf92ef4dfab45f4b1584c09d3a
Permalink
https://devfeature-collection.sl.nsw.gov.au/record/TN_cdi_doaj_primary_oai_doaj_org_article_8aebcdaf92ef4dfab45f4b1584c09d3a
Other Identifiers
ISSN
2470-9239
E-ISSN
2470-9239
DOI
10.1002/epi4.13119
