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Browsing publications by Dr Andrew Schaefer

Newcastle AuthorsTitleYearFull text
Professor Robert Taylor
Dr Andrew Schaefer
A rare cause of autosomal recessive ataxia with very late diagnosis and prolonged disease course2025
Dr Andrew Schaefer
Professor Robert Taylor
Corrigendum to “Genetic Analysis and multimodal imaging confirm m.12148 T>C mitochondrial variant pathogenicity leading to multisystem dysfunction” [Molecular Genetics and Metabolism 144 (2025); 109049]2025
Dr Andrew Schaefer
Professor Robert Taylor
Genetic analysis and multimodal imaging confirm m.12148 T > C mitochondrial variant pathogenicity leading to multisystem dysfunction2025