Associated Papers
Overrepresentation of Germline Immune-Related Gene Variants in Patients with Acquired Bone Marrow Failure.
Pinc Z et al.
Journal of Clinical Immunology, 2025
41188636 (PubMed )
Supplement: 10875_2025_1951_MOESM1_ESM.xlsx › Table_S5_final
Digenic Leigh syndrome on the background of the m.11778G>A Leber hereditary optic neuropathy variant.
Blickhäuser B et al.
Brain : a Journal of Neurology, 2024
Emerging Roles of NDUFS8 Located in Mitochondrial Complex I in Different Diseases.
Wang S et al.
Molecules (basel, Switzerland), 2022
Expanding the phenotype of DNAJC30-associated Leigh syndrome.
Zawadzka M et al.
Clinical Genetics, 2022
DNAJC30 defect: a frequent cause of recessive Leber hereditary optic neuropathy and Leigh syndrome.
Stenton SL et al.
Brain : a Journal of Neurology, 2022
35148383 (PubMed )
Supplement: awac052_supplementary_data.pdf
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