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Article

Evolution and novel radiological changes of neurodegeneration associated with mutations in C19orf12.

Parkinsonism & related disorders - 1 Jun 2017

Skowronska Marta, Kmiec Tomasz, Jurkiewicz Elzbieta, Malczyk Katarzyna, Kurkowska-Jastrzębska Iwona, Czlonkowska Anna

Abstract excerpt

INTRODUCTION: Neurodegeneration with brain iron accumulation (NBIA) comprises a heterogeneous group of disorders with accumulation of iron in the brain, mostly basal ganglia. NBIA subtype mitochondrial membrane protein-associated neurodegeneration (MPAN) is caused by recently discovered mutations in C19orf12, which encodes a protein localized in the mitochondrial membrane. METHODS: The present and past...

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PMID: 28347614
DOI: 10.1016/j.parkreldis.2017.03.013

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PubMed metadata and Literature Corpus relationships. Corpus snapshot updated 5 Sept 2026. Manifest publication-graph-cohort-2026-09-05.1.

Source receipt: pubmed, retrieved 5 Sept 2026.

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