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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
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
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
Professor Rita Horvath
Dysregulation of Mitochondrial Ca2+ Uptake and Sarcolemma Repair Underlie Muscle Weakness and Wasting in Patients and Mice Lacking MICU12019
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
Ahmad Alahmad
Haya AL-Balool
Dr Charlotte Alston
Professor Rita Horvath
Professor Robert Taylor
et al.
Mutations in ELAC2 associated with hypertrophic cardiomyopathy impair mitochondrial tRNA 3'-end processing2019
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
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