Associated Papers
Identification of Poor Prognostic Markers in Triple-Negative Breast Cancer Using Whole Exome Sequencing.
Lee S et al.
Journal of Breast Cancer, 2025
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Genetic Causes of Cardiomyopathy in Children: First Results From the Pediatric Cardiomyopathy Genes Study.
Ware SM et al.
Journal of the American Heart Association, 2021
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M et al.
Molecular Genetics and Metabolism Reports, 2020
Mastermind: A Comprehensive Genomic Association Search Engine for Empirical Evidence Curation and Genetic Variant Interpretation.
Chunn LM et al.
Frontiers in Genetics, 2020
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
Hypertrophic olivary degeneration on magnetic resonance imaging in mitochondrial syndromes associated with POLG and SURF1 mutations.
Kinghorn KJ et al.
Journal of Neurology, 2013
SURF1-associated Leigh syndrome: a case series and novel mutations.
Lee IC et al.
Human Mutation, 2012
Analysis of the mitochondrial complex I-V enzyme activities of peripheral leukocytes in oxidative phosphorylation disorders.
Ma YY et al.
Journal of Child Neurology, 2011
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2009
Approaches to finding the molecular basis of mitochondrial oxidative phosphorylation disorders.
Kirby DM et al.
Twin Research and Human Genetics : the Official Journal of the International Society for Twin Studies, 2008
[Leigh syndrome due to pyruvate dehydrogenase E1 alpha subunit gene mutation: a complicated and difficult case study].
Zhang Y et al.
Zhongguo Dang Dai Er Ke Za Zhi = Chinese Journal of Contemporary Pediatrics, 2007
Clinical and molecular survey in 124 Chinese patients with Leigh or Leigh-like syndrome.
Zhang Y et al.
Journal of Inherited Metabolic Disease, 2007
Clinical and laboratory survey of 65 Chinese patients with Leigh syndrome.
Yang YL et al.
Chinese Medical Journal, 2006
[Clinical and laboratory screening studies on urea cycle defects].
Yang YL et al.
Zhonghua Er Ke Za Zhi = Chinese Journal of Pediatrics, 2005
Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.
Dubot A et al.
Mitochondrion, 2004
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
Heterogeneity of magnetic resonance imaging in Leigh syndrome with SURF1 gene 604G-->C mutation.
Xie S et al.
Clinical Imaging, 0