Concepedia

Effects of riboflavin in children with complex II deficiency

Marianna Bugiani, Eleonora Lamantea, Federica Invernizzi, Isabella Moroni, Alberto Bizzi, Massimo Zeviani, Graziella Uziel

Brain and Development · 2006 · 81 citations · 26 references

DOI

Concepts

References

26

Mutation of a nuclear succinate dehydrogenase gene results in mitochondrial respiratory chain deficiency

Thomas Bourgeron, Pierre Rustin, Dominique Chrétien et al. · Nature Genetics · 1995 · 725 citations

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Mutations in each of the five subunits of translation initiation factor eIF2B can cause leukoencephalopathy with vanishing white matter

Marjo S. van der Knaap, Peter A. J. Leegwater, Andrea A.M. Könst et al. · Annals of Neurology · 2001 · 387 citations

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The eIF-2 alpha protein kinases, regulators of translation in eukaryotes from yeasts to humans.

Charles E. Samuel · Journal of Biological Chemistry · 1993 · 385 citations · Full text

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Clinical and molecular findings in children with complex I deficiency

Marianna Bugiani, Federica Invernizzi, Simona Alberio et al. · Biochimica et Biophysica Acta (BBA) - Bioenergetics · 2004 · 263 citations

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Compound heterozygous mutations in the flavoprotein gene of the respiratory chain complex II in a patient with Leigh syndrome

Béatrice Parfait, Delphine Chrétien, Agnès Rötig et al. · Human Genetics · 2000 · 175 citations

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