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Publications

Neuronally Derived Extracellular Vesicle α-Synuclein as a Serum Biomarker for Individuals at Risk of Developing Parkinson Disease.

Yan S. et al, (2023), JAMA Neurol

Detailed Analysis of ITPR1 Missense Variants Guides Diagnostics and Therapeutic Design.

Tolonen JP. et al, (2023), Mov Disord

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Park J. et al, (2023), Genet Med, 25

Normal and pathogenic variation of RFC1 repeat expansions: implications for clinical diagnosis.

Dominik N. et al, (2023), Brain

Towards a multi-arm multi-stage platform trial of disease modifying approaches in Parkinson's disease.

Foltynie T. et al, (2023), Brain, 146, 2717 - 2722

Monitoring α-synuclein ubiquitination dynamics reveals key endosomal effectors mediating its trafficking and degradation

Zenko D. et al, (2023), Science Advances, 9

Methodological considerations in neuronal extracellular vesicle isolation for α-synuclein biomarkers

Yan S. et al, (2023), Brain

Alternating Magnetic Field-Promoted Nanoparticle Mixing: The On-Chip Immunocapture of Serum Neuronal Exosomes for Parkinson’s Disease Diagnostics

Sharafeldin M. et al, (2023), Analytical Chemistry, 95, 7906 - 7913

Multiplexed Profiling of Extracellular Vesicles for Biomarker Development

Jiang C. et al, (2022), Nano-Micro Letters, 14

The Phenotypic Continuum of ATP1A3-Related Disorders.

Vezyroglou A. et al, (2022), Neurology, 99, e1511 - e1526

Heterozygous UCHL1 loss-of-function variants cause a neurodegenerative disorder with spasticity, ataxia, neuropathy, and optic atrophy.

Park J. et al, (2022), Genet Med

The Phenotypic Continuum of ATPLA3-Related Disorders.

Vezyroglou A. et al, (2022), Neurology

Initiation and progression of α-synuclein pathology in Parkinson’s disease

Tofaris GK., (2022), Cellular and Molecular Life Sciences, 79

Longitudinal changes of early motor and cognitive symptoms in progressive supranuclear palsy: the OxQUIP study

Pereira MF. et al, (2022), BMJ Neurology Open, 4, e000214 - e000214

Treatment Selection in Multi-Arm Multi-Stage Clinical Trials in Parkinson Disease: The Search for the Ideal Neuroprotective Drug

Gonzalez-Robles C. et al, (2022), MOVEMENT DISORDERS, 37, S329 - S329

Phenotypic manifestation of α-synuclein strains derived from Parkinson’s disease and multiple system atrophy in human dopaminergic neurons

Tanudjojo B. et al, (2021), Nature Communications, 12

Validation of α-synuclein in L1CAM-immunocaptured exosomes as a biomarker for the stratification of Parkinsonian syndromes

TOFARIS G., (2021), Movement Disorders

Facile impedimetric analysis of neuronal exosome markers in Parkinson's disease diagnostics

FU Y. et al, (2020), Analytical Chemistry

Serum neuronal exosomes predict and differentiate Parkinson’s disease from atypical parkinsonism

Jiang C. et al, (2020), Journal of Neurology, Neurosurgery & Psychiatry, 91, 720 - 729

How is alpha-synuclein cleared from the cell?

(2019), Journal of Neurochemistry

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