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
Clinical genome sequencing in patients with suspected rare genetic disease in Peru.
Bazalar-Montoya J et al.
Npj Genomic Medicine, 2024
Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.
Dupré M et al.
Pediatric Radiology, 2024
N-acetylcysteine and cysteamine bitartrate prevent azide-induced neuromuscular decompensation by restoring glutathione balance in two novel surf1-/- zebrafish deletion models of Leigh syndrome.
Haroon S et al.
Human Molecular Genetics, 2023
FGF21 outperforms GDF15 as a diagnostic biomarker of mitochondrial disease in children.
Riley LG et al.
Molecular Genetics and Metabolism, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
SURF1 deficiency causes demyelinating Charcot-Marie-Tooth disease.
Echaniz-Laguna A et al.
Neurology, 2013
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
Neonatal onset of mitochondrial disorders in 129 patients: clinical and laboratory characteristics and a new approach to diagnosis.
Honzik T et al.
Journal of Inherited Metabolic Disease, 2012
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
SURF1 missense mutations promote a mild Leigh phenotype.
Piekutowska-Abramczuk D et al.
Clinical Genetics, 2009
Pathogenicity of missense mutations in SURF1 deficiency inducing the Leigh syndrome. Importance in diagnosis.
Dubot A et al.
Mitochondrion, 2004
Genetic defects of cytochrome c oxidase assembly.
Pecina P et al.
Physiological Research, 2004
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