Associated Papers
Generative AI Accelerates Genotype-Phenotype Characterization of a 1600-Case Leigh Syndrome Virtual Cohort from Published Literature.
Shen L
Biology, 2026
41744643 (PubMed )
Supplement: biology-15-00334-s001.zip › biology-4095010-supplementary-table-S1-to-S8.xlsx › Table_S7.qwen3-30B-A3B
Primary mitochondrial disorders and mimics: Insights from a large French cohort.
Rouzier C et al.
Annals of Clinical and Translational Neurology, 2024
38703036 (PubMed )
Supplement: ACN3-11-1478-s004.xlsx › children_patients
Leigh Syndrome: Spectrum of Molecular Defects and Clinical Features in Russia.
Kistol D et al.
International Journal of Molecular Sciences, 2023
Spinal Nerve Roots Abnormalities on MRI in a Child with SURF1 Mitochondrial Disease.
Rubino A et al.
Neuropediatrics, 2022
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
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
SURF1 related Leigh syndrome: Clinical and molecular findings of 16 patients from Turkey.
Kose M et al.
Molecular Genetics and Metabolism Reports, 2020
Identification of a novel deletion in SURF1 gene: Heterogeneity in Leigh syndrome with COX deficiency.
Ribeiro C et al.
Mitochondrion, 2016
Long survival in Leigh syndrome: new cases and review of literature.
Aulbert W et al.
Neuropediatrics, 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
Mutations in the SURF1 gene associated with Leigh syndrome and cytochrome C oxidase deficiency.
Péquignot MO et al.
Human Mutation, 2001
Nuclear gene defects in mitochondrial disorders.
Zeviani M et al.
Italian Journal of Neurological Sciences, 1999
Mutations of SURF-1 in Leigh disease associated with cytochrome c oxidase deficiency.
Tiranti V et al.
American Journal of Human Genetics, 1998
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