Rita Horváth

Sheffield Teaching Hospitals NHS Foundation Trust — United Kingdom

Biochemistry, Genetics and Molecular Biology · Life Sciences

79h-index21.4kcitations639works4.72yr avg
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Research Topics

Mitochondrial Function and Pathology(275), Metabolism and Genetic Disorders(179), ATP Synthase and ATPases Research(84), Hereditary Neurological Disorders(76), Genetic Neurodegenerative Diseases(70)

Publications617 total

ENGAGE: Analyzing the value of virtual reality in a patient-centric immersive learning program in myasthenia gravis for healthcare professionals
Frontiers in Neurology·2026Open Access
Exploring the Relationship Between Anxiety and Recovery Among Hungarian Athletes
Physical Culture and Sport Studies and Research·2025Open Access
Liver Involvement in <scp>POLG</scp> Disease—a Multicentre Cohort Study of 202 Patients
Journal of Inherited Metabolic Disease·2025Open Access
Charting the phenotypic landscape of mitochondrial diseases through a systematic evaluation of pathogenic mitochondrial DNA and nuclear gene variants
Genetics in Medicine·2025· 2 citedOpen Access
Spinocerebellar Ataxia 27 A with Episodic Ataxia: Case Series of Fibroblast Growth Factor 14 (FGF14) Microdeletions
The Cerebellum·2025Open Access
Biallelic variants in ARHGAP19 cause a progressive inherited motor-predominant neuropathy
Journal of Clinical Investigation·2025Open Access
Advances in standardized diagnosis and management of pediatric gastrointestinal bleeding
World Journal of Pediatrics·2025
THROUGH THE LOOKING GLASS: PERSPECTIVES ON ETHICAL, FORENSIC, AND LEGAL IMPLICATIONS IN CARING FOR TRANSITION-AGE YOUTH IN PEDIATRIC CONSULTATION-LIAISON PSYCHIATRY
Journal of the American Academy of Child & Adolescent Psychiatry·2025Open Access
Variant-specific deep phenotyping as a tool to develop precision therapies
Brain·2025Open Access
363PThe role of mtDNA release as a signalling molecule in mitochondrial myopathies
Neuromuscular Disorders·2025
Unusual extratesticular ultrasound appearance of chronic hematoma: A possible benign ultrasound sign observed in two centres
Imaging·2025Open Access
Case Report: Pathogenic PNPLA2 variants and nonsense-mediated mRNA decay result in an early-onset neutral lipid storage disease with myopathy
Frontiers in Genetics·2025Open Access
Spastic Ataxia Composite ( <scp>SPAXCOM</scp> ): A Scale to Evaluate the Progression of Subjects with Spasticity and Ataxia
Movement Disorders·2025· 1 citedOpen Access
Contemporary Epidemiology and Outcomes of Infective Endocarditis
Heart Lung and Circulation·2025Open Access
The Burden of Infective Endocarditis in Australian and New Zealand Intensive Care Units Over Two Decades-Data From the Adult Patient Database
Heart Lung and Circulation·2025
Infective Endocarditis in Queensland Intensive Care—Epidemiology and Outcomes
Heart Lung and Circulation·2025Open Access
Accuracy of International Classification Of Disease Coding for Identifying Infective Endocarditis and Causative Organisms in Routinely Collected Hospital Data
Heart Lung and Circulation·2025
Acute-onset axonal neuropathy following infection in children with biallelic RCC1 variants: a case series
The Lancet Neurology·2025· 1 citedOpen Access
Pontocerebellar Hypoplasia and Periventricular Leukomalacia Associated With p.Phe262Val Homozygous Variant in TTC1 Gene: A Report of 4 Cases
International Journal of Developmental Neuroscience·2025Open Access
Publisher Correction: Genomic reanalysis of a pan-European rare-disease resource yields new diagnoses
Nature Medicine·2025Open Access
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Frequent Co-authors

Patrick F. Chinnery(27), Hanns Lochmüller(13), Angela Pyle(12), Robert W. Taylor(9), Robert McFarland(8), Helen Griffin(8), Douglass M. Turnbull(7), Massimo Zeviani(7), Thomas Klopstock(7), Gráinne S. Gorman(6), Patrick Yu‐Wai‐Man(6), Mauro Santibanez‐Koref(6), Gavin Hudson(5), Michio Hirano(5), Holger Prokisch(5), Gerald Pfeffer(5), Emma L. Blakely(4), Philip G. Griffiths(4), Birgit Czermin(4), Valério Carelli(4)