Mandy Radefeldt

Rostock, MV 18055, Germany

Last Updated: 09/26/2026

Save publications for later
Sign Up
Not sure about your diagnosis?
Check Your Symptoms
Found 21 publications

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis.

The GBA1 p.E427K (p.E388K) Variant is a Risk Factor for Synucleinopathies: A Meta-Analysis.

Journal: medRxiv : the preprint server for health sciences
Published: March 27, 2026

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis.

The GBA1 p.E427K (p.E388K) Variant Is a Risk Factor for Synucleinopathies: A Meta-Analysis.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: March 18, 2026

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Reply to: "Unravelling the Complexity of VPS16 Splicing: Clinical Implications and Unresolved Questions".

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: January 13, 2026

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Expanding the Genetic and Phenotypic Spectrum of DYT-VPS16: The Importance of Splice-Site Variants.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 30, 2025

RAB32 -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria.

RAB32 -linked Parkinson's disease: Deep phenotyping, MDSGene literature review, and application of SynNeurGe criteria.

Journal: medRxiv : the preprint server for health sciences
Published: June 26, 2025

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.

RAB32-Linked Parkinson's Disease: Deep Phenotyping, MDSGene Literature Review, and Application of SynNeurGe Criteria.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: June 04, 2025

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer.

Expression and DNA methylation of 20S proteasome subunits as prognostic and resistance markers in cancer.

Journal: Molecular oncology
Published: February 21, 2025

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

African ancestry neurodegeneration risk variant disrupts an intronic branchpoint in GBA1.

Journal: medRxiv : the preprint server for health sciences
Published: January 13, 2025

Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

Genetic evidence for a link between frontotemporal dementia and Parkinson's disease: the case of RAB32 Ser71Arg.

Journal: Journal of neurology
Published: September 30, 2024

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Genetic and Epidemiological Insights into RAB32-Linked Parkinson's Disease.

Journal: Movement disorders : official journal of the Movement Disorder Society
Published: July 02, 2024

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Beyond genomics: using RNA-seq from dried blood spots to unlock the clinical relevance of splicing variation in a diagnostic setting.

Journal: European journal of human genetics : EJHG
Published: June 26, 2024

RAB32 mutation in Parkinson's disease.

RAB32 mutation in Parkinson's disease.

Journal: The Lancet. Neurology
Published: April 18, 2024
Showing 1-12 of 21

Last Updated: 09/26/2026