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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
Dr Monika Olahova
Jack Collier
Dr Charlotte Alston
Dr Noel Edwards
Dr Langping He
et al.
Molecular genetic investigations identify new clinical phenotypes associated with BCS1L-related mitochondrial disease2019
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
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