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
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
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
Dr Veronika Boczonadi
Professor Rita Horvath
Amyloid-beta in mitochondrial disease: mutation in a human metallopeptidase links amyloidotic neurodegeneration with mitochondrial processing2016
Professor Rita Horvath
BIOMARKERS IN CHARCOT-MARIE-TOOTH DISEASE 1A2016
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