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_S6.ChatGPT-5
Clinical Diagnosis and Treatment of Leigh Syndrome Based on SURF1: Genotype and Phenotype.
Lee IC et al.
Antioxidants (basel, Switzerland), 2021
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
Leigh Syndrome and SURF1 Gene Presenting with Febrile Seizure.
Panda PK et al.
Annals of Indian Academy of Neurology, 0
Only Pathogenic SURF-1 Variants Cause Leigh Syndrome.
Finsterer J
Annals of Indian Academy of Neurology, 0
Select a paper to view details