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  1. Article

    Open Access

    Analysis of rare Parkinson’s disease variants in millions of people

    Although many rare variants have been reportedly associated with Parkinson’s disease (PD), many have not been replicated or have failed to replicate. Here, we conduct a large-scale replication of rare PD varia...

    Vanessa Pitz, Mary B. Makarious, Sara Bandres-Ciga in npj Parkinson's Disease (2024)

  2. Article

    Open Access

    Multi-ancestry genome-wide association meta-analysis of Parkinson’s disease

    Although over 90 independent risk variants have been identified for Parkinson’s disease using genome-wide association studies, most studies have been performed in just one population at a time. Here we perform...

    Jonggeol Jeffrey Kim, Dan Vitale, Diego Véliz Otani, Michelle Mulan Lian in Nature Genetics (2024)

  3. Article

    Open Access

    Author Correction: The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

    Hampton L. Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco in npj Parkinson's Disease (2023)

  4. Article

    Open Access

    Exploring the genetic and genomic connection underlying neurodegeneration with brain iron accumulation and the risk for Parkinson’s disease

    Neurodegeneration with brain iron accumulation (NBIA) represents a group of neurodegenerative disorders characterized by abnormal iron accumulation in the brain. In Parkinson’s Disease (PD), iron accumulation ...

    Pilar Alvarez Jerez, Jose Luis Alcantud in npj Parkinson's Disease (2023)

  5. Article

    Open Access

    Association of polygenic risk score with response to deep brain stimulation in Parkinson’s disease

    Deep brain stimulation (DBS) is a well-established treatment option for select patients with Parkinson’s Disease (PD). However, response to DBS varies, therefore, the ability to predict who will have better ou...

    Esther Yoon, Sarah Ahmed, Ryan Li, Sara Bandres-Ciga in BMC Neurology (2023)

  6. Article

    Open Access

    The IPDGC/GP2 Hackathon - an open science event for training in data science, genomics, and collaboration using Parkinson’s disease data

    Open science and collaboration are necessary to facilitate the advancement of Parkinson’s disease (PD) research. Hackathons are collaborative events that bring together people with different skill sets and bac...

    Hampton L. Leonard, Ruqaya Murtadha, Alejandro Martinez-Carrasco in npj Parkinson's Disease (2023)

  7. Article

    Open Access

    Identification and prediction of Parkinson’s disease subtypes and progression using machine learning in two cohorts

    The clinical manifestations of Parkinson’s disease (PD) are characterized by heterogeneity in age at onset, disease duration, rate of progression, and the constellation of motor versus non-motor features. Ther...

    Anant Dadu, Vipul Satone, Rachneet Kaur, Sayed Hadi Hashemi in npj Parkinson's Disease (2022)

  8. Article

    Open Access

    Genome-wide association study of REM sleep behavior disorder identifies polygenic risk and brain expression effects

    Rapid-eye movement (REM) sleep behavior disorder (RBD), enactment of dreams during REM sleep, is an early clinical symptom of alpha-synucleinopathies and defines a more severe subtype. The genetic background o...

    Lynne Krohn, Karl Heilbron, Cornelis Blauwendraat in Nature Communications (2022)

  9. Article

    Open Access

    APOE E4 is associated with impaired self-declared cognition but not disease risk or age of onset in Nigerians with Parkinson’s disease

    The relationship between APOE polymorphisms and Parkinson’s disease (PD) in black Africans has not been previously investigated. We evaluated the association between APOE polymorphic variability and self-declared...

    Njideka U. Okubadejo, Olaitan Okunoye, Oluwadamilola O. Ojo in npj Parkinson's Disease (2022)

  10. Article

    Open Access

    17q21.31 sub-haplotypes underlying H1-associated risk for Parkinson’s disease are associated with LRRC37A/2 expression in astrocytes

    Parkinson’s disease (PD) is genetically associated with the H1 haplotype of the MAPT 17q.21.31 locus, although the causal gene and variants underlying this association have not been identified.

    Kathryn R. Bowles, Derian A. Pugh, Yiyuan Liu, Tulsi Patel in Molecular Neurodegeneration (2022)

  11. Article

    Open Access

    Multi-modality machine learning predicting Parkinson’s disease

    Personalized medicine promises individualized disease prediction and treatment. The convergence of machine learning (ML) and available multimodal data is key moving forward. We build upon previous work to deli...

    Mary B. Makarious, Hampton L. Leonard, Dan Vitale in npj Parkinson's Disease (2022)

  12. Article

    Open Access

    Finding genetically-supported drug targets for Parkinson’s disease using Mendelian randomization of the druggable genome

    Parkinson’s disease is a neurodegenerative movement disorder that currently has no disease-modifying treatment, partly owing to inefficiencies in drug target identification and validation. We use Mendelian ran...

    Catherine S. Storm, Demis A. Kia, Mona M. Almramhi in Nature Communications (2021)

  13. No Access

    Article

    Genome sequencing analysis identifies new loci associated with Lewy body dementia and provides insights into its genetic architecture

    The genetic basis of Lewy body dementia (LBD) is not well understood. Here, we performed whole-genome sequencing in large cohorts of LBD cases and neurologically healthy controls to study the genetic architect...

    Ruth Chia, Marya S. Sabir, Sara Bandres-Ciga, Sara Saez-Atienzar in Nature Genetics (2021)

  14. No Access

    Article

    ATP10B and the risk for Parkinson’s disease

    Raquel Real, Anni Moore, Cornelis Blauwendraat, Huw R. Morris in Acta Neuropathologica (2020)

  15. Article

    Open Access

    Mitochondria function associated genes contribute to Parkinson’s Disease risk and later age at onset

    Mitochondrial dysfunction has been implicated in the etiology of monogenic Parkinson’s disease (PD). Yet the role that mitochondrial processes play in the most common form of the disease; sporadic PD, is yet t...

    Kimberley J. Billingsley, Ines A. Barbosa, Sara Bandrés-Ciga in npj Parkinson's Disease (2019)