Associated Papers
Neurodevelopmental Implications Underpinning Hereditary Spastic Paraplegia.
Zhi Y et al.
Cns Neuroscience & Therapeutics, 2025
39932116 (PubMed )
Supplement: CNS-31-e70260-s001.xlsx › SPG55
Specialist multidisciplinary input maximises rare disease diagnoses from whole genome sequencing.
Macken WL et al.
Nature Communications, 2022
36344503 (PubMed )
Supplement: 41467_2022_32908_MOESM1_ESM.pdf
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: cohort study.
Schon KR et al.
Bmj (clinical Research Ed.), 2021
Diagnosing Mitochondrial Disorders Remains Challenging in the Omics Era.
Forny P et al.
Neurology. Genetics, 2021
Leigh syndrome in a patient with a novel C12orf65 pathogenic variant: case report and literature review.
Perrone E et al.
Genetics and Molecular Biology, 2020
32478789 (PubMed )
Supplement: 1415-4757-GMB-43-2-e20180271-s1.pdf
A variant by any name: quantifying annotation discordance across tools and clinical databases.
Yen JL et al.
Genome Medicine, 2017
28122645 (PubMed )
Supplement: 13073_2016_396_MOESM1_ESM.xlsx › Table_S1
Adult Onset Leigh Syndrome in the Intensive Care Setting: A Novel Presentation of a C12orf65 Related Mitochondrial Disease.
Wesolowska M et al.
Journal of Neuromuscular Diseases, 2015
Delineation of C12orf65-related phenotypes: a genotype-phenotype relationship.
Spiegel R et al.
European Journal of Human Genetics : Ejhg, 2014
Optic atrophy and a Leigh-like syndrome due to mutations in the c12orf65 gene: report of a novel mutation and review of the literature.
Heidary G et al.
Journal of Neuro-ophthalmology : the Official Journal of the North American Neuro-ophthalmology Society, 2014
Behr's Syndrome is Typically Associated with Disturbed Mitochondrial Translation and Mutations in the C12orf65 Gene.
Pyle A et al.
Journal of Neuromuscular Diseases, 2014
Mutations in C12orf65 in patients with encephalomyopathy and a mitochondrial translation defect.
Antonicka H et al.
American Journal of Human Genetics, 2010
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