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Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Professor Rita Horvath
A multicenter retrospective study of charcot-marie-tooth disease type 4B (CMT4B) associated with mutations in myotubularin-related proteins (MTMRs)2019
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
Professor Patrick Chinnery
Professor Rita Horvath
Professor Bobby McFarland
Dr Victoria Nesbitt
Dr Hannah Steele
et al.
Diagnosis of 'possible' mitochondrial disease: an existential crisis2019
Gabriella-Denisa Hathazi
Professor Rita Horvath
Dr Ana Topf
Identification of cellular pathogenicity markers for SIL1 mutations linked to marinesco-sjögren syndrome2019
Professor Rita Horvath
MFN2 mutations in Charcot-Marie-Tooth disease alter mitochondria-associated ER membrane function but do not impair bioenergetics2019
Benjamin Munro
Professor Rita Horvath
Dr Juliane Mueller
Nucleoside supplementation modulates mitochondrial DNA copy number in the dguok −/− zebrafish2019
Dr Yi Ng
Dr Mika Martikainen
Dr Grainne Gorman
Dr Alasdair Blain
Dr Andrew Schaefer
et al.
Pathogenic variants in MT-ATP6: A United Kingdom–based mitochondrial disease cohort study2019
Dr Hannah Steele
Professor Rita Horvath
Professor Patrick Chinnery
Dr Anna Basu
Professor Andrew Blamire
et al.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study2019
Professor Rita Horvath
Professor Patrick Chinnery
Dr Anna Basu
Dr Ian Wilson
Professor Andrew Blamire
et al.
Safety and efficacy of deferiprone for pantothenate kinase-associated neurodegeneration: a randomised, double-blind, controlled trial and an open-label extension study2019
Dr Grace McMacken
Dr Sally Spendiff
Dr Roger Whittaker
Emily O'Connor
Rachel Howarth
et al.
Salbutamol modifies the neuromuscular junction in a mouse model of ColQ myasthenic syndrome2019
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