Christine Klein

This study identifies a CAG repeat expansion in EP400 as a novel cause of spinocerebellar ataxia in Serbian patients, with an inverse correlation between repeat number and age at onset.

The paper characterizes the genetic landscape of Parkinson's disease in a Chilean cohort, identifying common pathogenic variants in LRRK2 and GBA1.

The paper identifies the GCH1 p.Ser80Asn variant as a rare, East Asian-enriched risk factor for Parkinson's disease with increased odds ratio and specific clinical features.

This study identifies pathogenic and intermediate repeat expansions in Parkinson's disease and parkinsonism across 11 ancestries, highlighting ATXN2's role in PD risk and ancestry-specific patterns.

This study uses long-read sequencing to accurately detect low-frequency mitochondrial heteroplasmy in Parkinson's disease patients and carriers.

This study finds the GBA1 p.E427K variant increases risk for synucleinopathies through a meta-analysis of case-control studies.

The paper identifies Parkinson's disease-associated regulatory variants in human dopaminergic neurons and shows they modulate SCARB2 and BAG3 expression.

The paper uses single-nucleus RNA sequencing to identify cell type-specific dysregulation in Parkin-deficient neuron-microglia co-cultures, revealing distinct pathway disturbances in dopaminergic neurons and microglia.

The paper functionally characterizes PRKN variants using a pooled assay, reclassifies variants of uncertain significance, and predicts Parkinson's disease age at onset.

This study investigates the role of SORL1 genetic variants in AD, RD, and PD across diverse populations, identifying variants associated with risk but no significant cumulative effect.

The paper shows that oxidative stress causes micronuclear collapse in Parkinson's fibroblasts, leading to DNA export via amphisomes and pro-inflammatory EVs, which can be mitigated by a mitochondria-targeted antioxidant.

This study identifies genetic associations between lysosomal genes and Parkinson's disease risk across diverse populations using GWAS and whole genome sequencing data.

The paper assesses the frequency of dystonia-linked pathogenic variants in Parkinson's disease patients and finds they are present in 0.57% of cases, with GCH1 being the most common gene affected.

This study identifies genetic variants associated with Parkinson's disease in African and African admixed populations, highlighting differences from European and Asian populations.

This study compares long-read sequencing and optical genome mapping in detecting structural variants in Parkinson's disease, finding OGM better detects large variants while ONT provides high-resolution refinement.

The paper identifies PPM1M as a phosphatase that reverses LRRK2-mediated Rab phosphorylation and links a rare mutation to Parkinson's disease.

This paper analyzes genetic variation in Parkinson's disease across multiple ancestries, revealing ancestry-specific patterns and highlighting the importance of diverse populations in genetic research.

This study uses exome sequencing to identify genetic variants in dystonia patients, finding 137 likely pathogenic variants in 51 genes and expanding the known phenotypic spectrum of dystonia-related genes.

The paper validates a mitochondrial polygenic score for Parkinson's disease across diverse populations, finding strong associations in Europeans and Ashkenazi Jews but not in other ancestries.

The paper develops an improved polygenic score for idiopathic Parkinson's disease, showing higher discriminative performance and explaining variable penetrance in genetic forms of the disease.

The paper updates and expands the MDSGene database with clinical and genetic data on LRRK2 variants in Parkinson's disease, including 7,885 individuals and 292 variants.

This paper surveys global perspectives on returning genetic research results in Parkinson's disease, finding disparities in access, training, and policy practices across countries.

The paper investigates FGF14 repeat interruptions in ataxia patients and unaffected individuals, finding that mosaic interruptions (mDRILS) correlate with age at onset and affect pathogenicity.

The paper reports genetic findings from a UK-wide study of early-onset and familial Parkinson's disease, identifying pathogenic variants in known PD genes and highlighting the need for further monogenic causes.

The paper introduces the NeuroBooster Array, a genome-wide genotyping platform designed to study neurological disorders across diverse populations by capturing genetic variation and enabling imputation of disease-related variants.

This paper combines two global monogenic Parkinson's disease initiatives to create a comprehensive cohort and infrastructure for studying multi-ancestry genetic factors and disease expression.

The paper examines how polygenic scores and lifestyle factors influence age at onset in Parkinson's disease, finding that lifestyle factors have a larger impact than genetic variants.

The paper outlines the protocol for integrating genetic and clinical data from a global cohort of over 150,000 participants to study the genetic causes of sporadic Parkinson's disease.

The paper evaluates Oxford Nanopore sequencing for detecting GBA variants in Parkinson's disease patients and controls, finding high true-positive rates and identifying two pathogenic variants.