Juliane W. Winkelmann

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 252 publications

Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.

Polygenic risk scores in neurological disorders: restless legs syndrome as a translational model.

Journal: Medizinische Genetik : Mitteilungsblatt des Berufsverbandes Medizinische Genetik e.V

Published: July 08, 2026

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

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Splice effect of a synonymous variant in AP4B1: multiomics approach establishes the diagnosis in two sisters with spastic paraplegia.

Journal: Human mutation

Published: April 21, 2026

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

Neurodevelopmental Disorder with Dystonia and Chorea Linked to De Novo Variants in the Splicing Regulator SRRM4.

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

Published: December 19, 2025

Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4.

Association of DNA methylation with hypertension and blood pressure: a 7-year longitudinal study from KORA F4/FF4.

Journal: BMC medicine

Published: November 17, 2025

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Screening for Congenital Myasthenic Syndromes in Adults With Seronegative Myasthenia Gravis Using Next-Generation Sequencing.

Journal: Neurology

Published: September 26, 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

Sleep and circadian health in the UK Biobank: report on the 2023 sleep questionnaire enhancement.

Sleep and circadian health in the UK Biobank: report on the 2023 sleep questionnaire enhancement.

Journal: Sleep

Published: September 19, 2025

Genome-wide DNA methylation patterns for indicators of liver steatosis: a longitudinal multiomic study.

Genome-wide DNA methylation patterns for indicators of liver steatosis: a longitudinal multiomic study.

Journal: Clinical epigenetics

Published: September 17, 2025

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

Integrating Long-Read Nanopore Sequencing for Precision Resolution of Genomic Variants in Dystonia.

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

Published: July 11, 2025

Long-term exposure to traffic-related air pollution is associated with epigenetic age acceleration.

Long-term exposure to traffic-related air pollution is associated with epigenetic age acceleration.

Journal: Environmental research

Published: July 10, 2025

Showing 1-12 of 252

Last Updated: 09/26/2026