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Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Marina Bartsakoulia
Dr Angela Pyle
Dr Jennifer Duff
Dr Helen Griffin
Dr Veronika Boczonadi
et al.
A novel mechanism causing imbalance of mitochondrial fusion and fission in human myopathies2018
Professor Rita Horvath
AP4 deficiency: A novel form of neurodegeneration with brain iron accumulation?2018
Professor Rita Horvath
Professor Patrick Chinnery
First-line genomic diagnosis of mitochondrial disorders2018
Dr Paulo Lorenzoni
Professor Rita Horvath
Professor Hanns Lochmuller
How to Spot Congenital Myasthenic Syndromes Resembling the Lambert–Eaton Myasthenic Syndrome? A Brief Review of Clinical, Electrophysiological, and Genetics Features2018
Dr Andreas Roos
Rachel Thompson
Professor Rita Horvath
Professor Hanns Lochmuller
Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases2018
Dr Veronika Boczonadi
Giulia Ricci
Professor Rita Horvath
Mitochondrial DNA transcription and translation: clinical syndromes2018
Dr Boglárka Bánsági
Dr Mark Baker
Matt Jennings
Dr Roger Whittaker
Dr Jennifer Duff
et al.
Multifocal demyelinating motor neuropathy and hamartoma syndrome associated with a de novo PTEN mutation2018
Dr Veronika Boczonadi
Dr Helen Griffin
Dr Andreas Roos
Marina Bartsakoulia
Dr Boglarka Bansagi
et al.
Mutations in glycyl-tRNA synthetase impair mitochondrial metabolism in neurons2018
Professor Rita Horvath
Reply: POLR3A variants in hereditary spastic paraplegia and ataxia2018
Professor Rita Horvath
Revisiting mitochondrial diagnostic criteria in the new era of genomics2018
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