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Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Sunitha Balaraju
Dr Ana Topf
Professor Rita Horvath
Autosomal recessive variants in TUBGCP2 alter the γ-tubulin ring complex leading to neurodevelopmental disease2021
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Andreas Roos
Molecular pathophysiology of human MICU1 deficiency2021
Professor Hanns Lochmuller
Professor Rita Horvath
Dr Oksana Pogoryelova
Results from a 3-year Non-interventional, Observational Disease Monitoring Program in Adults with GNE Myopathy2021
Professor Rita Horvath
Dr Wei Wei
Dr Robert Pitceathly
Professor Michael Hanna
Professor John Sayer
et al.
Use of whole genome sequencing to determine genetic basis of suspected mitochondrial disorders: Cohort study2021
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children2020
Dr Grace McMacken
Professor Hanns Lochmuller
Dr Boglarka Bansagi
Dr Angela Pyle
Professor Patrick Chinnery
et al.
Behr syndrome and hypertrophic cardiomyopathy in a family with a novel UCHL1 deletion2020
Professor Rita Horvath
Clinical and Genetic Features in a Series of Eight Unrelated Patients with Neuropathy Due to Glycyl-tRNA Synthetase (GARS) Variants2020
Professor Rita Horvath
Clinico-Genetic, Imaging and Molecular Delineation of COQ8A-Ataxia: A Multicenter Study of 59 Patients2020
Benjamin Munro
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Confirmation of TACO1 as a Leigh Syndrome Disease Gene in Two Additional Families2020
Dr Angela Pyle
Dr Jennifer Duff
Professor Rita Horvath
Homozygous TAF1C variants are associated with a novel childhood-onset neurological phenotype2020
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