Associated Papers
SURF1 Deficiency: Expanding on Disease Phenotype and Assessing Disease Burden by Describing Clinical and Biochemical Phenotype.
Kayani S et al.
American Journal of Medical Genetics. Part A, 2025
Application of whole exome sequencing in carrier screening for high-risk families without probands.
Huang Q et al.
Frontiers in Genetics, 2024
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Mitochondrial Disease and the Kidney With a Special Focus on CoQ10 Deficiency.
Schijvens AM et al.
Kidney International Reports, 2020
The driver landscape of sporadic chordoma.
Tarpey PS et al.
Nature Communications, 2017
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
MRI of the brain in childhood-onset mitochondrial disorders with central nervous system involvement.
Sofou K et al.
Mitochondrion, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
Adaptation of respiratory chain biogenesis to cytochrome c oxidase deficiency caused by SURF1 gene mutations.
Kovářová N et al.
Biochimica Et Biophysica Acta, 2012
Ophthalmological findings in children and young adults with genetically verified mitochondrial disease.
Grönlund MA et al.
The British Journal of Ophthalmology, 2010
Loss of function of Sco1 and its interaction with cytochrome c oxidase.
Stiburek L et al.
American Journal of Physiology. Cell Physiology, 2009
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
Retrospective, multicentric study of 180 children with cytochrome C oxidase deficiency.
Böhm M et al.
Pediatric Research, 2006
Tissue-specific cytochrome c oxidase assembly defects due to mutations in SCO2 and SURF1.
Stiburek L et al.
The Biochemical Journal, 2005
Hypertrichosis in patients with SURF1 mutations.
Ostergaard E et al.
American Journal of Medical Genetics. Part A, 2005
SURF1 gene mutations in three cases with Leigh syndrome and cytochrome c oxidase deficiency.
Moslemi AR et al.
Neurology, 2003
Functional alteration of cytochrome c oxidase by SURF1 mutations in Leigh syndrome.
Pecina P et al.
Biochimica Et Biophysica Acta, 2003
[A new missense mutation of 574C>T in the SURF1 gene--biochemical and molecular genetic study in seven children with Leigh syndrome].
Capková M et al.
Casopis Lekaru Ceskych, 2002
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
SURFEIT-1 gene analysis and two-dimensional blue native gel electrophoresis in cytochrome c oxidase deficiency.
Coenen MJ et al.
Biochemical and Biophysical Research Communications, 1999