Borut Peterlin

Ljubljana, Slovenia

Last Updated: 09/26/2026

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Found 234 publications

Rare-Variant Burden in Mitochondrial Parkinson's Disease.

Rare-Variant Burden in Mitochondrial Parkinson's Disease.

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

Published: June 14, 2026

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.

How we diagnose and treat hereditary transthyretin-mediated amyloidosis with polyneuropathy in the Balkan region: an expert opinion.

Journal: Frontiers in neurology

Published: May 08, 2026

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Consensus recommendations for next-generation sequencing-based genetic testing in Rare Neurological diseases.

Journal: European journal of human genetics : EJHG

Published: March 16, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a novel cohesinopathy gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: medRxiv : the preprint server for health sciences

Published: March 11, 2026

Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's Disease.

Enrichment of Rare Variants in Nuclear-Encoded Mitochondrial Metabolism Genes in Patients with Early-Onset or Familial Parkinson's Disease.

Journal: Genes

Published: February 28, 2026

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Discovery of PHB1 as a Novel Candidate Gene in Dominant Optic Atrophy.

Journal: Clinical genetics

Published: February 16, 2026

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Clinical, in vitro, and in vivo evidence of WAPL as a cohesinopathy-associated gene and phenotypic driver of 10q22.3q23.2 genomic disorder.

Journal: American journal of human genetics

Published: February 15, 2026

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Monoallelic loss-of-function variants in ZNF536 are associated with a neurodevelopmental disorder with prominent behavioral features.

Journal: American journal of human genetics

Published: February 06, 2026

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

DE NOVO VARIANTS IN THE POLY(RC)-BINDING PROTEIN GENE PCBP1 CAUSE A NEURODEVELOPMENTAL DISORDER.

Journal: medRxiv : the preprint server for health sciences

Published: December 19, 2025

ACE gene and male infertility: a South Slavic case-control study and multi-omics data integration.

ACE gene and male infertility: a South Slavic case-control study and multi-omics data integration.

Journal: Systems biology in reproductive medicine

Published: October 08, 2025

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.

Two Cases of SPEN Haploinsufficiency Presenting with Dystonia: Expanding the Genotype and Phenotype.

Journal: Movement disorders clinical practice

Published: September 26, 2025

Showing 1-12 of 234

Last Updated: 09/26/2026