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1.
  • Clinical and Imaging Marker... Clinical and Imaging Markers of Prodromal Parkinson's Disease
    Hustad, Eldbjørg; Aasly, Jan O Frontiers in neurology, 05/2020, Volume: 11
    Journal Article
    Peer reviewed
    Open access

    The diagnosis of Parkinson's disease (PD) relies on the clinical effects of dopamine deficiency, including bradykinesia, rigidity and tremor, usually manifesting asymmetrically. Misdiagnosis is ...
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  • Inflammatory Diseases Among... Inflammatory Diseases Among Norwegian LRRK2 Mutation Carriers. A 15-Years Follow-Up of a Cohort
    Aasly, Jan O Frontiers in neuroscience, 01/2021, Volume: 15
    Journal Article
    Peer reviewed
    Open access

    The first families with LRRK2 related Parkinson's disease (PD) were presented around 15 years ago and numerous papers have described the characteristics of the phenotype. The prevalence of autosomal ...
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  • Alpha-synuclein p.H50Q, a n... Alpha-synuclein p.H50Q, a novel pathogenic mutation for Parkinson's disease
    Appel-Cresswell, Silke; Vilarino-Guell, Carles; Encarnacion, Mary ... Movement disorders, June 2013, Volume: 28, Issue: 6
    Journal Article
    Peer reviewed

    ABSTRACT Background Alpha‐synuclein plays a central role in the pathophysiology of Parkinson's disease. Three missense mutations in SNCA, the gene encoding alpha‐synuclein, as well as genomic ...
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4.
  • Long-Term Outcomes of Genet... Long-Term Outcomes of Genetic Parkinson’s Disease
    Aasly, Jan O. Journal of movement disorders, 05/2020, Volume: 13, Issue: 2
    Journal Article
    Peer reviewed
    Open access

    Parkinson’s disease (PD) is a progressive neurodegenerative disorder that affects 1–2% of people by the age of 70 years. Age is the most important risk factor, and most cases are sporadic without any ...
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5.
  • Mitochondrial impairment in... Mitochondrial impairment in patients with Parkinson disease with the G2019S mutation in LRRK2
    MORTIBOYS, Heather; JOHANSEN, Krisztina K; AASLY, Jan O ... Neurology, 11/2010, Volume: 75, Issue: 22
    Journal Article
    Peer reviewed

    The LRRK2(G2019S) mutation is the most common identifiable cause for Parkinson disease (PD), but the underlying mechanisms leading to neuronal cell death remain largely unclear. Impaired ...
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Available for: UL
6.
  • VPS35 Mutations in Parkinso... VPS35 Mutations in Parkinson Disease
    Vilariño-Güell, Carles; Wider, Christian; Ross, Owen A. ... American journal of human genetics, 07/2011, Volume: 89, Issue: 1
    Journal Article
    Peer reviewed
    Open access

    The identification of genetic causes for Mendelian disorders has been based on the collection of multi-incident families, linkage analysis, and sequencing of genes in candidate intervals. This study ...
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  • Metabolomic profiling in LR... Metabolomic profiling in LRRK2-related Parkinson's disease
    Johansen, Krisztina K; Wang, Lei; Aasly, Jan O ... PloS one, 10/2009, Volume: 4, Issue: 10
    Journal Article
    Peer reviewed
    Open access

    Mutations in LRRK2 gene represent the most common known genetic cause of Parkinson's disease (PD). We used metabolomic profiling to identify biomarkers that are associated with idiopathic and LRRK2 ...
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8.
  • Writers Are Common among Pa... Writers Are Common among Parkinson’s Disease Patients: A Longitudinal Study
    Aasly, Anna; Aasly, Jan O. Behavioural Neurology, 2021, Volume: 2021
    Journal Article, Book Review
    Peer reviewed
    Open access

    Parkinson’s disease (PD) patients may have a specific personality profile, which includes being introvert, cautious and devoted to hard work. The evaluation of psychological characteristics must be ...
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  • DNM3 and genetic modifiers ... DNM3 and genetic modifiers of age of onset in LRRK2 Gly2019Ser parkinsonism: a genome-wide linkage and association study
    Trinh, Joanne, BSc; Gustavsson, Emil K, MSc; Vilariño-Güell, Carles, PhD ... Lancet neurology, 11/2016, Volume: 15, Issue: 12
    Journal Article
    Peer reviewed
    Open access

    Summary Background Leucine-rich repeat kinase 2 ( LRRK2 ) mutation 6055G→A (Gly2019Ser) accounts for roughly 1% of patients with Parkinson's disease in white populations, 13–30% in Ashkenazi Jewish ...
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