Rita Horvath

59PUBLICATIONS
341CO-AUTHORS
Neurology and neuromuscular diseasesPharmacogenomicsCellular nervous systemMedical devicesOphthalmology
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Publications (59)

|Aug 24, 2026
Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

|Aug 16, 2026
DYT-PRKRA Dystonia-Parkinsonism with Pathological Startle: Expanding the Phenotype of PRKRA-Related Disease.

|Jul 08, 2026
A functional framework in patient fibroblasts informs ATP7A variant pathogenicity and identifies p.Q990P as a novel cause of distal motor neuropathy.

|Jun 21, 2026
Mitochondrial DNA heteroplasmy drives cortical neuronal disturbances in human organoids harbouring the common m.3243A>G mutation.

|Jun 10, 2026
Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

|Jun 05, 2026
Disease-causing MFN2 mutants impair mitochondrial fission dynamics by distinct DRP1 dysregulation.

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Frequent Collaborators

11 joint publications

Hanns Lochmüller

9 joint publications

Kiran Polavarapu

9 joint publications

Henry Houlden

8 joint publications

Patrick F Chinnery