Associated Papers
Loss of heterozygosity exposes germline mutations in complex I and drives Warburg metabolism in oncocytic carcinoma of the thyroid.
de la Calle Arregui C et al.
Biorxiv : the Preprint Server for Biology, 2025
Diagnostic Yield of Whole-Genome Sequencing in Patients With Kidney Failure of Undetermined Etiology at Age 50 Years or Younger.
Granhøj J et al.
Kidney International Reports, 2025
Incidental and secondary findings in trio exome sequencing.
Cohen C et al.
Genes & Diseases, 2024
38523675 (PubMed )
Supplement: mmc3.pdf
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
Novel biallelic mutations in TMEM126B cause splicing defects and lead to Leigh-like syndrome with severe complex I deficiency.
Zhou X et al.
Journal of Human Genetics, 2023
36482121 (PubMed )
Supplement: 10038_2022_1102_MOESM2_ESM.pdf
Molecular Genetics Overview of Primary Mitochondrial Myopathies.
Arena IG et al.
Journal of Clinical Medicine, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Mutations in Complex I Assembly Factor TMEM126B Result in Muscle Weakness and Isolated Complex I Deficiency.
Sánchez-Caballero L et al.
American Journal of Human Genetics, 2016
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