Associated Papers
Molecular Alterations in Core Subunits of Mitochondrial Complex I and Their Relation to Parkinson's Disease.
Epifane-de-Assunção MC et al.
Molecular Neurobiology, 2025
Whole genome and exome sequencing identify NDUFV2 mutations as a new cause of progressive cavitating leukoencephalopathy.
Liu Z et al.
Journal of Medical Genetics, 2022
Whole Exome Sequencing Is the Preferred Strategy to Identify the Genetic Defect in Patients With a Probable or Possible Mitochondrial Cause.
Theunissen TEJ et al.
Frontiers in Genetics, 2018
Selection and Characterization of Palmitic Acid Responsive Patients with an OXPHOS Complex I Defect.
Theunissen TEJ et al.
Frontiers in Molecular Neuroscience, 2017
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