Melanie S. Brugger

Munich, BY, Germany

Last Updated: 09/26/2026

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Found 42 publications

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Between myopathy and mortality: Challenges in the diagnosis of PLOD1-related kyphoscoliotic Ehlers-Danlos syndrome.

Journal: Journal of neuromuscular diseases

Published: August 29, 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

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

CMIP as a novel candidate gene for neurodevelopmental and neuropsychiatric disorders.

Journal: European journal of human genetics : EJHG

Published: December 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

Comparative evaluation of three 18F-fluorinated FAP ligands in rodent tumor models.

Comparative evaluation of three 18F-fluorinated FAP ligands in rodent tumor models.

Journal: European journal of medicinal chemistry

Published: July 28, 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

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Author Correction: Next-generation phenotyping integrated in a national framework for patients with ultrarare disorders improves genetic diagnostics and yields new molecular findings.

Journal: Nature genetics

Published: June 24, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Characterization of the genotypic and phenotypic spectrum of TCF7L2-related neurodevelopmental disorder (TRND).

Journal: Genetics in medicine : official journal of the American College of Medical Genetics

Published: June 23, 2025

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

De Novo Variants in PPFIA2 in Individuals With Neurodevelopmental Disorders.

Journal: American journal of medical genetics. Part A

Published: April 17, 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

Showing 1-12 of 42

Last Updated: 09/26/2026