Associated Papers
Untargeted proteomics enables ultra-rapid variant prioritisation in mitochondrial and other rare diseases.
Hock DH et al.
Genome Medicine, 2025
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
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
Cranial and spinal nerve enhancement in SURF1-associated Leigh syndrome.
Dupré M et al.
Pediatric Radiology, 2024
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Refinements and considerations for trio whole-genome sequence analysis when investigating Mendelian diseases presenting in early childhood.
French CE et al.
Hgg Advances, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
Molecular mechanism of mitochondrial respiratory chain assembly and its relation to mitochondrial diseases.
Mukherjee S et al.
Mitochondrion, 2020
AMP-independent activator of AMPK for treatment of mitochondrial disorders.
Moore T et al.
Plos One, 2020
Mutations in SURF1 are important genetic causes of Leigh syndrome in Slovak patients.
Danis D et al.
Endocrine Regulations, 2018
Cytochrome C oxydase deficiency: SURF1 gene investigation in patients with Leigh syndrome.
Maalej M et al.
Biochemical and Biophysical Research Communications, 2018
Advantages and pitfalls of an extended gene panel for investigating complex neurometabolic phenotypes.
Reid ES et al.
Brain : a Journal of Neurology, 2016
Noninvasive diagnostics of mitochondrial disorders in isolated lymphocytes with high resolution respirometry.
Pecina P et al.
Bba Clinical, 2014
Beneficial effects of resveratrol on respiratory chain defects in patients' fibroblasts involve estrogen receptor and estrogen-related receptor alpha signaling.
Lopes Costa A et al.
Human Molecular Genetics, 2014
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
Initial experience in the treatment of inherited mitochondrial disease with EPI-743.
Enns GM et al.
Molecular Genetics and Metabolism, 2012
Respiratory mutations lead to different pleiotropic effects on OXPHOS complexes in yeast and in human cells.
Marsy S et al.
Febs Letters, 2008