Rita Horvath

57PUBLICATIONS
339CO-AUTHORS
Cellular nervous systemMedical devicesOphthalmologyMedical infection agents (incl. prions)Neurology and neuromuscular diseases
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Publications (57)

|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.

|Apr 22, 2026
The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.

|Apr 18, 2026
Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

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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