Melissa Walker

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Publications (8)

• Neuropathologic Features of Adult-Onset Progressive Leukodystrophy Due to KARS Pathogenic Variants
  Neurology Genetics 2026 DOI: 10.1212/NXG.0000000000200419
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• Perfusion and Electrophysiological Changes in MELAS
  Annals of Neurology 2025 DOI: 10.1002/ana.27176
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• Prenatal molecular diagnosis of pyruvate dehydrogenase complex deficiency enables rapid initiation of ketogenic diet
  American Journal of Medical Genetics Part A 2024 DOI: 10.1002/ajmg.a.63825
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• T cell activation contributes to purifying selection against the MELAS‐associated m.3243A>G pathogenic variant in blood
  Journal of Inherited Metabolic Disease 2024 DOI: 10.1002/jimd.12726
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• Hepatic histologic findings in a case of MEGDHEL syndrome due to SERAC1 deficiency
  American Journal of Medical Genetics Part A 2022 DOI: 10.1002/ajmg.a.62886
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• Hereditary Myelopathies
  Seminars in Neurology 2021 DOI: 10.1055/s-0041-1725153
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• Circulating markers of NADH-reductive stress correlate with mitochondrial disease severity
  Journal of Clinical Investigation 2021 DOI: 10.1172/JCI136055
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• Refining the phenotype of the THG1L (p.Val55Ala mutation)‐related mitochondrial autosomal recessive congenital cerebellar ataxia
  American Journal of Medical Genetics Part A 2019 DOI: 10.1002/ajmg.a.61196
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