Associated Papers
Expanding the genotypes and phenotypes for 19 rare diseases by exome sequencing performed in pediatric intensive care unit.
Liu J et al.
Human Mutation, 2021
A Review of Multiple Mitochondrial Dysfunction Syndromes, Syndromes Associated with Defective Fe-S Protein Maturation.
Lebigot E et al.
Biomedicines, 2021
The ChinaMAP analytics of deep whole genome sequences in 10,588 individuals.
Cao Y et al.
Cell Research, 2020
32355288 (PubMed )
Supplement: 41422_2020_322_MOESM14_ESM.xlsx › S7
Muscle Involvement in a Large Cohort of Pediatric Patients with Genetic Diagnosis of Mitochondrial Disease.
Jou C et al.
Journal of Clinical Medicine, 2019
30634555 (PubMed )
Supplement: jcm-08-00068-s001.pdf
Novel NFU1 Variants Induced MMDS Behaved as Special Leukodystrophy in Chinese Sufferers.
Jin D et al.
Journal of Molecular Neuroscience : Mn, 2017
Differential diagnosis of lipoic acid synthesis defects.
Tort F et al.
Journal of Inherited Metabolic Disease, 2016
Secondary coenzyme Q10 deficiencies in oxidative phosphorylation (OXPHOS) and non-OXPHOS disorders.
Yubero D et al.
Mitochondrion, 2016
A leaky splicing mutation in NFU1 is associated with a particular biochemical phenotype. Consequences for the diagnosis.
Ferrer-Cortès X et al.
Mitochondrion, 2016
Cavitating leukoencephalopathy with multiple mitochondrial dysfunction syndrome and NFU1 mutations.
Invernizzi F et al.
Frontiers in Genetics, 2014
Protein expression profiles in patients carrying NFU1 mutations. Contribution to the pathophysiology of the disease.
Ferrer-Cortès X et al.
Journal of Inherited Metabolic Disease, 2013
Abstracts of ICIEM 2013, the 12th International Congress of Inborn Errors of Metabolism. Barcelona, Spain. September 3-6, 2013.
Unknown Author
Journal of Inherited Metabolic Disease, 2013
A fatal mitochondrial disease is associated with defective NFU1 function in the maturation of a subset of mitochondrial Fe-S proteins.
Navarro-Sastre A et al.
American Journal of Human Genetics, 2011
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