Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Professor Rita Horvath
An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP22017
Professor Rita Horvath
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome2017
Dr Boglarka Bansagi
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Professor Rita Horvath
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency2017
Professor Rita Horvath
Dr Hue Hornig - Do
Professor Zofia Chrzanowska-Lightowlers
Store-Operated Ca2+ Entry Controls Induction of Lipolysis and the Transcriptional Reprogramming to Lipid Metabolism2017
Professor Rita Horvath
Professor Patrick Chinnery
The Effect of Neurological Genomics and Personalized Mitochondrial Medicine2017
Professor Rita Horvath
A Mutation in the Flavin Adenine Dinucleotide-Dependent Oxidoreductase FOXRED1 Results in Cell-Type-Specific Assembly Defects in Oxidative Phosphorylation Complexes I and II2016
Professor Rita Horvath
Aberrant Neuropilin 1 Interaction as a biomarker in diagnosing TRNA Synthetase-linked Charcot-Marie-Tooth disease2016
Professor Rita Horvath
Absence of the Autophagy Adaptor SQSTM1/p62 Causes Childhood-Onset Neurodegeneration with Ataxia, Dystonia, and Gaze Palsy2016
Dr Michele Giunta
Dr Aurora Gomez Duran
Dr Veronika Boczonadi
Professor Rita Horvath
Altered RNA metabolism due to a homozygous RBM7 mutation in a patient with spinal motor neuropathy2016