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
Phenotypic continuum of NFU1-related disorders.
Kaiyrzhanov R et al.
Annals of Clinical and Translational Neurology, 2022
Impact of mutations within the [Fe-S] cluster or the lipoic acid biosynthesis pathways on mitochondrial protein expression profiles in fibroblasts from patients.
Lebigot E et al.
Molecular Genetics and Metabolism, 2017
Understanding the molecular basis for multiple mitochondrial dysfunctions syndrome 1 (MMDS1): impact of a disease-causing Gly189Arg substitution on NFU1.
Wesley NA et al.
The Febs Journal, 2017
New spastic paraplegia phenotype associated to mutation of NFU1.
Tonduti D et al.
Orphanet Journal of Rare Diseases, 2015
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