Associated Papers
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
Assembly of mitochondrial succinate dehydrogenase in human health and disease.
Cao K et al.
Free Radical Biology & Medicine, 2023
Mitochondrial protein dysfunction in pathogenesis of neurological diseases.
Wang L et al.
Frontiers in Molecular Neuroscience, 2022
An Overview of Mitochondrial Protein Defects in Neuromuscular Diseases.
Marra F et al.
Biomolecules, 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
Targeted next generation sequencing with an extended gene panel does not impact variant detection in mitochondrial diseases.
Plutino M et al.
Bmc Medical Genetics, 2018
Whole exome sequencing in patients with white matter abnormalities.
Vanderver A et al.
Annals of Neurology, 2016
Disease-Causing SDHAF1 Mutations Impair Transfer of Fe-S Clusters to SDHB.
Maio N et al.
Cell Metabolism, 2016
Cochaperone binding to LYR motifs confers specificity of iron sulfur cluster delivery.
Maio N et al.
Cell Metabolism, 2014
Complex II deficiency--a case report and review of the literature.
Jain-Ghai S et al.
American Journal of Medical Genetics. Part A, 2013
Leukoencephalopathy with accumulated succinate is indicative of SDHAF1 related complex II deficiency.
Ohlenbusch A et al.
Orphanet Journal of Rare Diseases, 2012
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Ghezzi D et al.
Nature Genetics, 2009
The genetic basis of isolated mitochondrial complex II deficiency.
Fullerton M et al.
Molecular Genetics and Metabolism, 0
Select a paper to view details