Associated Papers
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
Danis D et al.
Endocrine Regulations, 2018
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.
Marsy S et al.
Febs Letters, 2008
New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
Pequignot MO et al.
The Journal of Biological Chemistry, 2001
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
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