Associated Papers
Somatic Mutations in Nuclear and Mitochondrial Genes of Mitochondrial Proteins in Primary and Recurrent Glioblastoma.
Tompa M et al.
International Journal of Molecular Sciences, 2026
Systems-Level Integration of Multi-Omics Identifies Genetic Modifiers of TANGO2 Deficiency Disorder.
Airoldi M et al.
Biomolecules, 2025
TANGO2-related rhabdomyolysis symptoms are associated with abnormal autophagy functioning.
de Calbiac H et al.
Autophagy Reports, 2024
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-s001.xlsx › Feuil2
Early initiation of B-vitamin supplementation may reduce symptoms and explain intrafamilial variability: Insights from two sibling pairs from the TANGO2 natural history study.
Miyake CY et al.
American Journal of Medical Genetics. Part A, 2023
Natural history of TANGO2 deficiency disorder: Baseline assessment of 73 patients.
Miyake CY et al.
Genetics in Medicine : Official Journal of the American College of Medical Genetics, 2023
Cardiac crises: Cardiac arrhythmias and cardiomyopathy during TANGO2 deficiency related metabolic crises.
Miyake CY et al.
Heart Rhythm, 2022
Variable clinical severity in TANGO2 deficiency: Case series and literature review.
Schymick J et al.
American Journal of Medical Genetics. Part A, 2022
Clinical and biological characterization of 20 patients with TANGO2 deficiency indicates novel triggers of metabolic crises and no primary energetic defect.
Bérat CM et al.
Journal of Inherited Metabolic Disease, 2021
Clinical presentation and proteomic signature of patients with TANGO2 mutations.
Mingirulli N et al.
Journal of Inherited Metabolic Disease, 2020
TANGO2 deficiency as a cause of neurodevelopmental delay with indirect effects on mitochondrial energy metabolism.
Jennions E et al.
Journal of Inherited Metabolic Disease, 2019
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