Associated Papers
The Undiagnosed Diseases Network (UDN) Solves Ocular Syndromic Diagnostic Dilemmas.
Tinker RJ et al.
American Journal of Ophthalmology, 2025
40780579 (PubMed )
Supplement: NIHMS2116078-supplement-Supplementary_Material.pdf
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
Mitochondrial complex I NUBPL mutations cause combined dystonia with bilateral striatal necrosis and cerebellar atrophy.
Balint B et al.
European Journal of Neurology, 2019
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
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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