Associated Papers
Experiences from dual genome next-generation sequencing panel testing for mitochondrial disorders: a comprehensive molecular diagnosis.
Gorman E et al.
Frontiers in Genetics, 2025
40110048 (PubMed )
Supplement: Table2.xlsx › Supplementary_Table_2
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.
Rubino A et al.
Neuropediatrics, 2022
The Diagnostic Approach to Mitochondrial Disorders in Children in the Era of Next-Generation Sequencing: A 4-Year Cohort Study.
Tolomeo D et al.
Journal of Clinical Medicine, 2021
34362006 (PubMed )
Supplement: jcm-10-03222-s001.zip › jcm-1250779-conversion › Table_S2A.pdf
VarAFT: a variant annotation and filtration system for human next generation sequencing data.
Desvignes JP et al.
Nucleic Acids Research, 2018
Neurophysiological profile of peripheral neuropathy associated with childhood mitochondrial disease.
Menezes MP et al.
Mitochondrion, 2016
SURF1 deficiency: a multi-centre natural history study.
Wedatilake Y et al.
Orphanet Journal of Rare Diseases, 2013
23829769 (PubMed )
Supplement: 1750-1172-8-96-S1.docx
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
A novel mutation in the SURF1 gene in a child with Leigh disease, peripheral neuropathy, and cytochrome-c oxidase deficiency.
Bruno C et al.
Journal of Child Neurology, 2002
New splicing-site mutations in the SURF1 gene in Leigh syndrome patients.
Pequignot MO et al.
The Journal of Biological Chemistry, 2001
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
Leigh Syndrome with COX deficiency and SURF1 gene mutations: MR imaging findings.
Rossi A et al.
Ajnr. American Journal of Neuroradiology, 0
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