Associated Papers
The genetic spectrum features of 2261 Chinese children with epilepsy and intellectual disability.
Pang N et al.
Bmc Medicine, 2025
40598568 (PubMed )
Supplement: 12916_2025_4220_MOESM1_ESM.xlsx › Table_S3
Clinical-grade whole genome sequencing-based haplarithmisis enables all forms of preimplantation genetic testing.
Janssen AEJ et al.
Nature Communications, 2024
39223156 (PubMed )
Supplement: 41467_2024_51508_MOESM6_ESM.xlsx › SuppTable10
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
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
Accessory Subunits of the Matrix Arm of Mitochondrial Complex I with a Focus on Subunit NDUFS4 and Its Role in Complex I Function and Assembly.
Kahlhöfer F et al.
Life (basel, Switzerland), 2021
Ndufs4 related Leigh syndrome: A case report and review of the literature.
Ortigoza-Escobar JD et al.
Mitochondrion, 2016
Primary fibroblasts of NDUFS4(-/-) mice display increased ROS levels and aberrant mitochondrial morphology.
Valsecchi F et al.
Mitochondrion, 2013
A constant and similar assembly defect of mitochondrial respiratory chain complex I allows rapid identification of NDUFS4 mutations in patients with Leigh syndrome.
Assouline Z et al.
Biochimica Et Biophysica Acta, 2012
Isolated deficiencies of OXPHOS complexes I and IV are identified accurately and quickly by simple enzyme activity immunocapture assays.
Willis JH et al.
Biochimica Et Biophysica Acta, 2009
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