Associated Papers
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D et al.
Neuropediatrics, 2023
Molecular Basis of Rare Diseases Associated to the Maturation of Mitochondrial [4Fe-4S]-Containing Proteins.
Camponeschi F et al.
Biomolecules, 2022
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V et al.
Journal of Medical Genetics, 2021
Pathogenic mutations in NUBPL affect complex I activity and cold tolerance in the yeast model Yarrowia lipolytica.
Maclean AE et al.
Human Molecular Genetics, 2018
iFish: predicting the pathogenicity of human nonsynonymous variants using gene-specific/family-specific attributes and classifiers.
Wang M et al.
Scientific Reports, 2016
27527004 (PubMed )
Supplement: srep31321-s4.xls › SwissvarFilteredMix
Dynamics of Human Mitochondrial Complex I Assembly: Implications for Neurodegenerative Diseases.
Giachin G et al.
Frontiers in Molecular Biosciences, 2016
NUBPL mutations in patients with complex I deficiency and a distinct MRI pattern.
Kevelam SH et al.
Neurology, 2013
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