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Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Professor Rita Horvath
SACS variants are a relevant cause of autosomal recessive hereditary motor and sensory neuropathy2018
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
Selena Trifunov
Dr Angela Pyle
Dr Patrick Yu Wai Man
Dr Florence Burte
Dr Jennifer Duff
et al.
Clonal expansion of mtDNA deletions: different disease models assessed by digital droplet PCR in single muscle cells2018
Ingrid Emmerson
Emeritus Professor Paul Corris
Professor Rita Horvath
Erratum to: Telomerecat: A ploidy-agnostic method for estimating telomere length from whole genome sequencing data (Scientific Reports, (2018), 8, 1, (1300), 10.1038/s41598-017-14403-y)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
Professor Rita Horvath
Mitochondrial and nuclear disease panel (Mito-aND-Panel): Combined sequencing of mitochondrial and nuclear DNA by a cost-effective and sensitive NGS-based method2018
Dr Veronika Boczonadi
Giulia Ricci
Professor Rita Horvath
Mitochondrial DNA transcription and translation: clinical syndromes2018
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