Associated Papers
Expanding the Spectrum of NUBPL-Related Leukodystrophy.
Tonduti D et al.
Neuropediatrics, 2023
NUBPL mitochondrial disease: new patients and review of the genetic and clinical spectrum.
Kimonis V et al.
Journal of Medical Genetics, 2021
Pathogenic variants in NUBPL result in failure to assemble the matrix arm of complex I and cause a complex leukoencephalopathy with thalamic involvement.
Friederich MW et al.
Molecular Genetics and Metabolism, 2020
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