Browsing publications by Professor Rita Horvath

Newcastle AuthorsTitleYearFull text
Professor Hanns Lochmuller
Dr Roger Whittaker
Professor Rita Horvath
Drosophila studies support a role for a presynaptic synaptotagmin mutation in a human congenital myasthenic syndrome2017
Professor Rita Horvath
An Unusual Retinal Phenotype Associated With a Mutation in Sterol Carrier Protein SCP22017
Professor Rita Horvath
Biomarkers predict outcome in Charcot-Marie-Tooth disease 1A2017
Professor Rita Horvath
Professor Patrick Chinnery
Clinical, pathological and functional characterization of riboflavin-responsive neuropathy2017
Professor Rita Horvath
Cross-sectional analysis of a large cohort with X-linked Charcot-Marie-Tooth disease (CMTX1)2017
Professor Rita Horvath
De Novo Mutations in EBF3 Cause a Neurodevelopmental Syndrome2017
Dr Boglárka Bánsági
Dr Helen Griffin
Dr Roger Whittaker
Dr Teresinha Evangelista
Dr James Miller
et al.
Genetic heterogeneity of motor neuropathies2017
Dr Angela Pyle
Professor Patrick Chinnery
Professor Rita Horvath
Hypomorphic mutations in POLR3A are a frequent cause of sporadic and recessive spastic ataxia2017
Dr Andreas Roos
Rachel Thompson
Professor Rita Horvath
Professor Hanns Lochmuller
Intersection of Proteomics and Genomics to "Solve the Unsolved" in Rare Disorders such as Neurodegenerative and Neuromuscular Diseases2017
Professor Rita Horvath
Lifetime exercise intolerance with lactic acidosis as key manifestation of novel compound heterozygous ACAD9 mutations causing complex I deficiency2017
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