Robert Kopajtich

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 61 publications

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Pathogenicity of NUSAP1 Variants Is Defined by NMD-Escape: Evidence From Two Novel Cases and Systematic Population-Based Variant Analysis.

Journal: Clinical genetics

Published: July 08, 2026

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Resolving Complex Structural Variants in Undiagnosed Rare Movement Disorders via Multimodal Genomics and Multi-omics.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: April 28, 2026

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Bi-allelic variants in NDUFA5 cause a mitochondriopathy with complex I deficiency.

Journal: American journal of human genetics

Published: October 09, 2025

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Fibroblast Transcriptomics in Molecular Diagnostics of a Comprehensive Dystonia Cohort.

Journal: Annals of neurology

Published: September 24, 2025

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology

Published: June 13, 2025

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Recessive variants in mitochondrial Complex I nuclear subunits are an underrated cause of optic atrophy.

Journal: Brain : a journal of neurology

Published: June 13, 2025

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

Bi-allelic mutations in FASTKD5 are associated with cytochrome c oxidase deficiency and early- to late-onset Leigh syndrome.

Journal: American journal of human genetics

Published: March 04, 2025

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Deciphering DST-associated disorders: biallelic variants affecting DST-b cause a congenital myopathy.

Journal: Brain : a journal of neurology

Published: February 21, 2025

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Expanding the Allelic and Clinical Heterogeneity of Movement Disorders Linked to Defects of Mitochondrial Adenosine Triphosphate Synthase.

Journal: Movement disorders : official journal of the Movement Disorder Society

Published: January 15, 2025

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Pleiotropic effects of MORC2 derive from its epigenetic signature.

Journal: Brain : a journal of neurology

Published: January 11, 2025

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Hepatic Form of Dihydrolipoamide Dehydrogenase Deficiency (DLDD): Phenotypic Spectrum, Laboratory Findings, and Therapeutic Approaches in 52 Patients.

Journal: Journal of inherited metabolic disease

Published: January 03, 2025

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

An inherited mtDNA rearrangement, mimicking a single large-scale deletion, associated with MIDD and a primary cardiological phenotype.

Journal: Mitochondrion

Published: December 17, 2024

Showing 1-12 of 61

Last Updated: 09/26/2026