Title

Homozygous boricua TBCK mutation causes neurodegeneration and aberrant autophagy.

Document Type

Journal Article

Publication Date

1-1-2018

Journal

Annals of neurology

Volume

83

Issue

1

Inclusive Pages

153-165

DOI

10.1002/ana.25130

Keywords

Adolescent; Autophagy; Biomarkers; Child; Exome; Fibroblasts; Heredodegenerative Disorders, Nervous System; Humans; Intellectual Disability; Leucine; Male; Mechanistic Target of Rapamycin Complex 1; Mutation; Oligosaccharides; Phagosomes; Phenotype; Protein-Serine-Threonine Kinases; Puerto Rico

Peer Reviewed

1

This document is currently not available here.

Share

COinS