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Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Professor Hanns Lochmuller
Dr Ana Topf
Professor Rita Horvath
COL4A1 -related autosomal recessive encephalopathy in 2 Turkish children2020
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
Dr Hannah Steele
Dr Angela Pyle
Sila Hopton
Jane Newman
Dr Renae Stefanetti
et al.
Metabolic effects of bezafibrate in mitochondrial disease.2020
Dr David Burns
Dr Helen Griffin
Dr Graeme Wells
Romance Zendah
Benjamin Munro
et al.
RNA exosome mutations in pontocerebellar hypoplasia alter ribosome biogenesis and p53 levels2020
Dr Ana Topf
Sunitha Balaraju
Rachel Thompson
Dr Andreas Roos
Professor Hanns Lochmuller
et al.
Severe neurodevelopmental disease caused by a homozygous TLK2 variant2020
Dr Ana Topf
Professor Hanns Lochmuller
Professor Rita Horvath
Successful treatment of intractable epilepsy with ketogenic diet therapy in twins with ALG3-CDG2020
Professor Rita Horvath
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)2019
Sunitha Balaraju
Dr Ana Topf
Dr Grace McMacken
Professor Robert Taylor
Professor Rita Horvath
et al.
Congenital myasthenic syndrome with mild intellectual disability caused by a recurrent SLC25A1 variant2019
Dr Veronika Boczonadi
Dr Monika Olahova
Dr Boglárka Bánsági
Dr Andreas Roos
Dr Vankateswara Ramesh
et al.
Correction: Mitochondrial oxodicarboxylate carrier deficiency is associated with mitochondrial DNA depletion and spinal muscular atrophy–like disease (Genetics in Medicine, (2018), 20, 10, (1224-1235), 10.1038/gim.2017.251)2019
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