Rita Horvath focuses on Genetics, Pathology, Mitochondrial DNA, Mutation and Respiratory chain. Her Pathology study combines topics in areas such as Ataxia, Exome, Mitochondrial disease and Epilepsy. Her research in the fields of Chronic progressive external ophthalmoplegia, DGUOK and Mitochondrial DNA depletion syndrome overlaps with other disciplines such as Offspring.
She interconnects Neuromuscular junction, Cell biology and Somatic cell in the investigation of issues within Mutation. Her study in Respiratory chain is interdisciplinary in nature, drawing from both Endocrinology, Muscle biopsy, Internal medicine, Mitochondrial respiratory chain and Myoglobinuria. Her biological study deals with issues like Succinate dehydrogenase, which deal with fields such as Molecular biology.
Rita Horvath spends much of her time researching Genetics, Mitochondrial DNA, Mutation, Pathology and Mitochondrial disease. Gene, Phenotype, Exome sequencing, Missense mutation and Heteroplasmy are the primary areas of interest in her Genetics study. The study incorporates disciplines such as Molecular biology, Mitochondrion, Cytochrome c oxidase and Point mutation in addition to Mitochondrial DNA.
In her study, Endocrinology is strongly linked to Respiratory chain, which falls under the umbrella field of Mutation. Her work in Pathology addresses issues such as Ataxia, which are connected to fields such as Hereditary spastic paraplegia. The Mitochondrial disease study which covers Bioinformatics that intersects with Disease.
Her primary scientific interests are in Genetics, Mitochondrial disease, Mitochondrial DNA, Phenotype and Disease. Her study in Gene, Missense mutation, Exome sequencing, Allele and Aminoacyl tRNA synthetase falls within the category of Genetics. Her studies in Mitochondrial disease integrate themes in fields like MEDLINE, Bioinformatics, Ataxia, Computational biology and Pharmacology.
The Mitochondrial DNA study combines topics in areas such as Molecular biology, Penetrance and Mitochondrial translation. She studied Molecular biology and Oxidative phosphorylation that intersect with Respiratory chain. Her biological study spans a wide range of topics, including Mutation, Myopathy, Cohort and Glaucoma.
Rita Horvath mainly investigates Mitochondrial disease, Mitochondrial DNA, Mitochondrion, Respiratory chain and Cell biology. Her research in Mitochondrial disease intersects with topics in MEDLINE, Personalized medicine, Bioinformatics, Ataxia and Computational biology. Her Mitochondrial DNA study necessitates a more in-depth grasp of Genetics.
In Mitochondrion, Rita Horvath works on issues like Transfer RNA, which are connected to Mitochondrial respiratory chain, VAPB and Transport protein. Her research integrates issues of Molecular biology and MFN2 in her study of Respiratory chain. Her Cell biology study integrates concerns from other disciplines, such as Mutation, Mitochondrial matrix, Zebrafish and Spinal muscular atrophy.
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Prevalence of nuclear and mitochondrial DNA mutations related to adult mitochondrial disease.
Gráinne S. Gorman;Andrew M. Schaefer;Yi Ng;Nicholas Gomez.
Annals of Neurology (2015)
Phenotypic spectrum associated with mutations of the mitochondrial polymerase γ gene
R Horvath;G Hudson;G Ferrari;N Futterer.
Multi-system neurological disease is common in patients with OPA1 mutations
Patrick Yu-Wai-Man;Philip G. Griffiths;Philip G. Griffiths;G. Gorman;C.-M. Lourenco.
Clinical Expression of Leber Hereditary Optic Neuropathy Is Affected by the Mitochondrial DNA–Haplogroup Background
Gavin Hudson;Valerio Carelli;Valerio Carelli;Liesbeth Spruijt;Mike Gerards.
American Journal of Human Genetics (2007)
Universal heteroplasmy of human mitochondrial DNA
Brendan A.I. Payne;Ian J. Wilson;Patrick Yu-Wai-Man;Jonathan Coxhead.
Human Molecular Genetics (2013)
The myopathic form of coenzyme Q10 deficiency is caused by mutations in the electron-transferring-flavoprotein dehydrogenase (ETFDH) gene
Klaus Gempel;Haluk Topaloglu;Beril Talim;Peter Schneiderat.
Use of Whole-Exome Sequencing to Determine the Genetic Basis of Multiple Mitochondrial Respiratory Chain Complex Deficiencies
Robert W. Taylor;Angela Pyle;Helen Griffin;Emma L. Blakely.
Mutation in TACO1, encoding a translational activator of COX I, results in cytochrome c oxidase deficiency and late-onset Leigh syndrome.
Woranontee Weraarpachai;Hana Antonicka;Florin Sasarman;Florin Sasarman;Jürgen Seeger.
Nature Genetics (2009)
Late onset Pompe disease: clinical and neurophysiological spectrum of 38 patients including long-term follow-up in 18 patients.
Wolfgang Müller-Felber;Rita Horvath;Klaus Gempel;Teodor Podskarbi.
Neuromuscular Disorders (2007)
SDHAF1, encoding a LYR complex-II specific assembly factor, is mutated in SDH-defective infantile leukoencephalopathy.
Daniele Ghezzi;Paola Goffrini;Graziella Uziel;Rita Horvath;Rita Horvath.
Nature Genetics (2009)
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