Associated Papers
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Ketogenic Diet Treatment of Defects in the Mitochondrial Malate Aspartate Shuttle and Pyruvate Carrier.
Bölsterli BK et al.
Nutrients, 2022
Bi-allelic variants in MDH2: Expanding the clinical phenotype.
Ticci C et al.
Clinical Genetics, 2022
AGC1 Deficiency: Pathology and Molecular and Cellular Mechanisms of the Disease.
Pardo B et al.
International Journal of Molecular Sciences, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Mutations in MDH2, Encoding a Krebs Cycle Enzyme, Cause Early-Onset Severe Encephalopathy.
Ait-El-Mkadem S et al.
American Journal of Human Genetics, 2017
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