Genetic heterogeneity of neuronal intranuclear inclusion disease: What about the infantile variant?

Ann Clin Transl Neurol. 2021 Apr;8(4):994-1001. doi: 10.1002/acn3.51332. Epub 2021 Mar 29.

Authors

Jakub Sikora^{1

2}, Ivana Jedlickova¹, Anna Pristoupilova¹, Viktor Stranecky¹, Tomas Honzik¹

Affiliations

¹ Research Unit for Rare Diseases, Department of Paediatrics and Inherited Metabolic Disorders, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.
² Institute of Pathology, First Faculty of Medicine, Charles University and General University Hospital, Prague, Czech Republic.

No abstract available

Publication types

Letter
Research Support, Non-U.S. Gov't
Comment

MeSH terms

Genetic Heterogeneity*
Humans
Intranuclear Inclusion Bodies
Neurodegenerative Diseases* / genetics

Supplementary concepts

Neuronal intranuclear inclusion disease

Grants and funding

This work was funded by Ministerstvo Zdravotnictví Ceské Republiky grant NV19‐08‐00137.