Christine Klein

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.

This study examines how a mitochondrial polygenic score interacts with environmental factors to influence age at onset in LRRK2-PD and iPD, finding ethnic-specific effects and gene-environment interactions.

The paper identifies mitochondrial DNA heteroplasmy as a marker distinguishing disease manifestation in PINK1/PRKN mutation carriers.

The paper establishes a protocol for whole-genome sequencing to identify genetic causes of Parkinson's disease, focusing on monogenic variants and their clinical implications.

This study explores associations between coffee, smoking, and aspirin use with age at onset and clinical severity in idiopathic Parkinson's disease using a large cohort.

This study identifies genetic modifiers of LRRK2 mutations in Parkinson's disease, finding a significant variant in CORO1C and a polygenic risk score effect on penetrance.

This study uses Nanopore sequencing to analyze mtDNA methylation in human blood samples, finding low-level methylation across the genome but noting challenges with Guppy calling affecting results.

This study uses Mendelian randomization to assess the causal relationship between glycemic and anthropometric traits and Parkinson's disease risk, finding protective effects of waist-hip ratio and suggestive associations with fasting glucose.

This study shows that HP-β-CD treatment improves dopaminergic differentiation in PD patient-derived midbrain organoids by enhancing mitophagy.

This study uses Mendelian randomization to investigate causal links between risky behaviors and Parkinson's disease in over a million participants, finding protective and risk associations for specific behaviors.

The paper shows that inhibiting Lipin lipid phosphatase activity rescues neurological symptoms in TorsinA disease models.

This study performs a systematic meta-analysis of genetic association studies in isolated dystonia, identifying significant signals in TOR1A, DRD1, and ARSG but finding no single variant with strong association.

This study identifies the causal mechanism of X-linked Dystonia-Parkinsonism (XDP) by integrating genome and transcriptome assembly, revealing a SVA insertion causing intron retention and TAF1 dysfunction.