Articles with "neuropathological study" as a keyword



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Dissecting the neuronal vulnerability underpinning Alpers’ syndrome: a clinical and neuropathological study

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Published in 2019 at "Brain Pathology"

DOI: 10.1111/bpa.12640

Abstract: Alpers’ syndrome is an early‐onset neurodegenerative disorder often caused by biallelic pathogenic variants in the gene encoding the catalytic subunit of polymerase‐gamma (POLG) which is essential for mitochondrial DNA (mtDNA) replication. Alpers’ syndrome is characterized… read more here.

Keywords: study; pathology; neuropathological study; dissecting neuronal ... See more keywords