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Molecular Genetics and Metabolism|April 25, 2018
Novel founder intronic variant in SLC39A14 in two families causing Manganism and potential treatment strategiesLance H Rodan, Marissa Hauptman, Alissa M D'Gama, et al.
Annals of Clinical and Translational Neurology|May 15, 2024
Emerging variants, unique phenotypes, and transcriptomic signatures: an integrated study of COASY-associated diseasesChiara Cavestro, Francesca Morra, Andrea Legati, et al.
Molecular Cell|June 6, 2022
Coenzyme A precursors flow from mother to zygote and from microbiome to hostYi Yu, Marianne van der Zwaag, Jouke Jan Wedman, et al.
Journal of Child Neurology|April 22, 2025
Consensus Clinical Management Guideline for <i>PLA2G6</i>-Associated Neurodegeneration (PLAN)Jenny L Wilson, Audrey K S Soo, Allison Gregory, et al.
The Journal of Clinical Investigation|July 22, 2025
Coenzyme A protects against ferroptosis via CoAlation of mitochondrial thioredoxin reductaseChao-Chieh Lin, Yi-Tzu Lin, Ssu-Yu Chen, et al.
EMBO Molecular Medicine|October 30, 2019
4'-Phosphopantetheine corrects CoA, iron, and dopamine metabolic defects in mammalian models of PKANSuh Young Jeong, Penelope Hogarth, Andrew Placzek, et al.
Neurology|December 28, 2012
New NBIA subtype: genetic, clinical, pathologic, and radiographic features of MPANPenelope Hogarth, Allison Gregory, Michael C Kruer, et al.
Annals of Neurology|March 11, 2021
Mitochondrial DNA Analysis from Exome Sequencing Data Improves Diagnostic Yield in Neurological DiseasesOlivia V Poole, Chiara Pizzamiglio, David Murphy, et al.
Scientific Reports|September 14, 2017
Acetyl-4'-phosphopantetheine is stable in serum and prevents phenotypes induced by pantothenate kinase deficiencyIvano Di Meo, Cristina Colombelli, Balaji Srinivasan, et al.
The Lancet. Neurology|June 17, 2019
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension studyThomas Klopstock, Fernando Tricta, Lynne Neumayr, et al.
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