Rita Horvath

Central Parkway
Newcastle Upon Tyne, ENG, United Kingdom

Last Updated: 09/26/2026

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Found 317 publications

DYT-PRKRA Dystonia-Parkinsonism with Pathological Startle: Expanding the Phenotype of PRKRA-Related Disease.

DYT-PRKRA Dystonia-Parkinsonism with Pathological Startle: Expanding the Phenotype of PRKRA-Related Disease.

Journal: Movement disorders clinical practice

Published: May 27, 2026

A call for unified use of human aminoacyl-tRNA synthetase (ARS) gene nomenclature.

A call for unified use of human aminoacyl-tRNA synthetase (ARS) gene nomenclature.

Journal: FEBS letters

Published: April 24, 2026

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

Heterozygous OGDH Variants Are Involved in Peripheral Neuropathy With Ataxia and Optical Atrophy.

Journal: JIMD reports

Published: April 01, 2026

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Neurological disease progression in adults with ataxia telangiectasia: a longitudinal study.

Journal: Brain : a journal of neurology

Published: February 17, 2026

Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases.

Non-invasive biomarkers for diagnosis and monitoring of primary mitochondrial diseases.

Journal: Journal of neurology

Published: February 08, 2026

When muscles matter in SORD neuropathy.

When muscles matter in SORD neuropathy.

Journal: Journal of neuropathology and experimental neurology

Published: January 20, 2026

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Diagnostic Criteria and Management of MELAS and Stroke-Like Episodes: Consensus-Based Statements.

Journal: European journal of neurology

Published: January 10, 2026

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

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

Journal: Human molecular genetics

Published: December 23, 2025

The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.

The p.(Leu97Ile) variant expands the genetic landscape of NEFL-associated Charcot-Marie-tooth neuropathies.

Journal: Human molecular genetics

Published: November 18, 2025

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

A Homozygous CPSF1 Variant Causes Congenital Cataract, Intellectual Disability and Hyperphagia.

Journal: Clinical genetics

Published: October 08, 2025

Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.

Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.

Journal: Brain : a journal of neurology

Published: October 05, 2025

Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.

Mitochondrial DNA release and inflammation in mitochondrial disease pathogenesis.

Journal: Brain : a journal of neurology

Published: October 05, 2025

Showing 1-12 of 317

Last Updated: 09/26/2026