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Journal of Clinical Medicine|July 11, 2019
Utility of Whole Blood Thiamine Pyrophosphate Evaluation in <i>TPK1</i>-Related DiseasesEnrico Bugiardini, Simon Pope, René G Feichtinger, et al.
Acta Neuropathologica Communications|October 19, 2017
Glial cells are functionally impaired in juvenile neuronal ceroid lipofuscinosis and detrimental to neuronsLotta Parviainen, Sybille Dihanich, Greg W Anderson, et al.
Brain : a Journal of Neurology|May 24, 2015
Loss of PLA2G6 leads to elevated mitochondrial lipid peroxidation and mitochondrial dysfunctionKerri J Kinghorn, Jorge Iván Castillo-Quan, Fernando Bartolome, et al.
Basic Research in Cardiology|April 28, 2012
Metabolic adaptation to chronic hypoxia in cardiac mitochondriaLisa C Heather, Mark A Cole, Jun-Jie Tan, et al.
Nature Communications|November 25, 2025
Multi-omic analysis reveals lipid dysregulation associated with mitochondrial dysfunction in parkinson's disease brainJenny Hällqvist, Christina E Toomey, Rui Pinto, et al.
Brain : a Journal of Neurology|March 18, 2021
Aromatic l-amino acid decarboxylase deficiency: a patient-derived neuronal model for precision therapiesGiada Rossignoli, Karolin Krämer, Eleonora Lugarà, et al.
JIMD Reports|July 25, 2015
Coenzyme Q<sub>10</sub> and Pyridoxal Phosphate Deficiency Is a Common Feature in Mucopolysaccharidosis Type IIIDèlia Yubero, Raquel Montero, Mar O'Callaghan, et al.
Molecular Genetics and Metabolism|December 10, 2015
Secondary neurotransmitter deficiencies in epilepsy caused by voltage-gated sodium channelopathies: A potential treatment target?Gabriella A Horvath, Michelle Demos, Casper Shyr, et al.
American Journal of Human Genetics|December 3, 2016
Mutations in PROSC Disrupt Cellular Pyridoxal Phosphate Homeostasis and Cause Vitamin-B<sub>6</sub>-Dependent EpilepsyNiklas Darin, Emma Reid, Laurence Prunetti, et al.
Free Radical Biology & Medicine|October 27, 2009
Consequences of long-term oral administration of the mitochondria-targeted antioxidant MitoQ to wild-type miceSergio Rodriguez-Cuenca, Helena M Cochemé, Angela Logan, et al.
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