Associated Papers
Genetic aberration analysis of mitochondrial respiratory complex I implications in the development of neurological disorders and their clinical significance.
Dar GM et al.
Ageing Research Reviews, 2023
Biallelic Loss-of-Function NDUFA12 Variants Cause a Wide Phenotypic Spectrum from Leigh/Leigh-Like Syndrome to Isolated Optic Atrophy.
Magrinelli F et al.
Movement Disorders Clinical Practice, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Novel NDUFA12 variants are associated with isolated complex I defect and variable clinical manifestation.
Torraco A et al.
Human Mutation, 2021
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
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Term Neonate Presenting with the Combined Occurrence of Mucolipidosis Type II and Leigh Syndrome.
Speer RR et al.
Journal of Pediatric Genetics, 2020
Mitochondrial dysfunction and risk of cancer.
Lund M et al.
British Journal of Cancer, 2015
Complex I impairment in mitochondrial diseases and cancer: parallel roads leading to different outcomes.
Iommarini L et al.
The International Journal of Biochemistry & Cell Biology, 2013
Respiratory chain complex I deficiency due to NDUFA12 mutations as a new cause of Leigh syndrome.
Ostergaard E et al.
Journal of Medical Genetics, 2011
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