A Genome-Wide Screen for the Exonisation of Reference SINE-VNTR-Alus and Their Expression in CNS Tissues of Individuals with Amyotrophic Lateral Sclerosis

por Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
Publicado 2023

An Increased Burden of Highly Active Retrotransposition Competent L1s Is Associated with Parkinson’s Disease Risk and Progression in the PPMI Cohort

por Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
Publicado 2020

Transcript Variants of Genes Involved in Neurodegeneration Are Differentially Regulated by the APOE and MAPT Haplotypes

por Koks, Sulev, Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P.
Publicado 2021

Reference SVA insertion polymorphisms are associated with Parkinson’s Disease progression and differential gene expression

por Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
Publicado 2021

Expression Quantitative Trait Loci (eQTLs) Associated with Retrotransposons Demonstrate their Modulatory Effect on the Transcriptome

por Koks, Sulev, Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P.
Publicado 2021

Locus specific reduction of L1 expression in the cortices of individuals with amyotrophic lateral sclerosis

por Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
Publicado 2022

Reference LINE-1 insertion polymorphisms correlate with Parkinson’s disease progression and differential transcript expression in the PPMI cohort

por Fröhlich, Alexander, Pfaff, Abigail L., Bubb, Vivien J., Quinn, John P., Koks, Sulev
Publicado 2023

Characterisation of the Function of a SINE-VNTR-Alu Retrotransposon to Modulate Isoform Expression at the MAPT Locus

por Fröhlich, Alexander, Pfaff, Abigail L., Bubb, Vivien J., Koks, Sulev, Quinn, John P.
Publicado 2022

CRISPR deletion of a SINE-VNTR-Alu (SVA_67) retrotransposon demonstrates its ability to differentially modulate gene expression at the MAPT locus

por Fröhlich, Alexander, Hughes, Lauren S., Middlehurst, Ben, Pfaff, Abigail L., Bubb, Vivien J., Koks, Sulev, Quinn, John P.
Publicado 2023

Variable number tandem repeats – Their emerging role in sickness and health

por Marshall, Jack NG, Lopez, Ana Illera, Pfaff, Abigail L, Koks, Sulev, Quinn, John P, Bubb, Vivien J
Publicado 2021

Mitochondrial DNA variation in Parkinson’s disease: Analysis of “out-of-place” population variants as a risk factor

por Müller-Nedebock, Amica C., Pfaff, Abigail L., Pienaar, Ilse S., Kõks, Sulev, van der Westhuizen, Francois H., Elson, Joanna L., Bardien, Soraya
Publicado 2022

TOMM40‘523’ poly-T repeat length is a determinant of longitudinal cognitive decline in Parkinson’s disease

por Bakeberg, Megan C., Gorecki, Anastazja M., Pfaff, Abigail L., Hoes, Madison E., Kõks, Sulev, Akkari, P. Anthony, Mastaglia, Frank L., Anderton, Ryan S.
Publicado 2021

The TOMM40 ‘523’ polymorphism in disease risk and age of symptom onset in two independent cohorts of Parkinson’s disease

por Bakeberg, Megan C., Hoes, Madison E., Gorecki, Anastazja M., Theunissen, Frances, Pfaff, Abigail L., Kenna, Jade E., Plunkett, Kai, Kõks, Sulev, Akkari, P. Anthony, Mastaglia, Frank L., Anderton, Ryan S.
Publicado 2021

Single Nucleotide Polymorphisms Associated With Gut Homeostasis Influence Risk and Age-at-Onset of Parkinson's Disease

por Gorecki, Anastazja M., Bakeberg, Megan C., Theunissen, Frances, Kenna, Jade E., Hoes, Madison E., Pfaff, Abigail L., Akkari, P. Anthony, Dunlop, Sarah A., Kõks, Sulev, Mastaglia, Frank L., Anderton, Ryan S.
Publicado 2020

A polymorphic transcriptional regulatory domain in the amyotrophic lateral sclerosis risk gene CFAP410 correlates with differential isoform expression

por Marshall, Jack N. G., Fröhlich, Alexander, Li, Li, Pfaff, Abigail L., Middlehurst, Ben, Spargo, Thomas P., Iacoangeli, Alfredo, Lang, Bing, Al-Chalabi, Ammar, Koks, Sulev, Bubb, Vivien J., Quinn, John P.
Publicado 2022