Associated Papers
SURF1 mutations in Chinese patients with Leigh syndrome: Novel mutations, mutation spectrum, and the functional consequences.
Li Y et al.
Gene, 2018
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
Microscale oxygraphy reveals OXPHOS impairment in MRC mutant cells.
Invernizzi F et al.
Mitochondrion, 2012
High prevalence of SURF1 c.845_846delCT mutation in Polish Leigh patients.
Piekutowska-Abramczuk D et al.
European Journal of Paediatric Neurology : Ejpn : Official Journal of the European Paediatric Neurology Society, 2009
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
SURF1 gene mutations in Polish patients with COX-deficient Leigh syndrome.
Piekutowska-Abramczuk D et al.
Journal of Applied Genetics, 2001
Leigh syndrome: MRI findings in two children.
Kartikasalwah A et al.
Biomedical Imaging and Intervention Journal, 0
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