MDS Abstracts

Abstracts from the International Congress of Parkinson’s and Movement Disorders.

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Articles tagged "Parkin"

  • MDS Virtual Congress 2020

    PARK2 p.Ala82Glu variant is not associated with Parkinson’s disease

    L. Milanowski, B. Broadway, F. Fiesel, D. Hoffman-Zacharska, D. Koziorowski, A. Friedman, J. Slawek, O. Ross, W. Springer, Z. Wszolek (Jacksonville, FL, USA)

    Objective: The aim of the study was to analyze potential pathogenicity of the PARK2 p.Ala82Glu mutation, by functional studies of Parkin in the mitophagy paradigm…
  • MDS Virtual Congress 2020

    Interest of multiplex ligation-dependent probe amplification assay to identify pathogenic mutations in Parkinson’s disease patients

    E. Mutez, M. Swiderski, L. Defebvre, M.C Chartier-Harlin, V. Huin (Lille, France)

    Objective: To evaluate the interest of the MLPA (Multiplex Ligation-dependent Probe Amplification) commercially available kit in the genetic testing in Parkinson’s disease (PD). Background: PD…
  • MDS Virtual Congress 2020

    The First-Ever CNV Analysis in Latin American Parkinson’s Disease Patients

    E.I Sarihan, E. Pérez-Palma, L.M Niestroj, D. Loesch, M. Seyfi, M. Inca-Martinez, A. Horimoto, M. Cornejo-Olivas, L. Torres, P. Mazzetti, C. Cosentino, E. Dieguez, V. Raggio, A. Lescano, V. Tumas, V. Borges, H.B Ferraz, C. Rieder, A. Schumacher-Schuh, B.L Santos-Lobato, C. Velez-Pardo, M. Jimenez-Del-Rio, F. Lopera, P. Chana-Cuevas, W. Fernandez, G. Arboleda, H. Arboleda, C.E Arboleda-Bustos, D. Yearout, C.P Zabetian, T. Thornton, T.D O’Connor, D. Lal, I.F Mata (Cleveland, OH, USA)

    Objective: To assess the CNV burden in a cohort of Latin American Parkinson’s disease (PD) patients and controls. Background: Despite the fact that PD prevalence…
  • MDS Virtual Congress 2020

    Is early-onset of levodopa-induced dyskinesia a predictor of GBA mutation? A next-generation sequencing study of young-onset Parkinson’s disease patients in Thailand

    S. Thanprasertsuk, P. Phowthongkum, T. Hopetrungraung, C. Poorirerngpoom, T. Satirapatya, P. Wichit, O. Phokaewvarangkul, K. Vongpaisarnsin, S. Bongsebandhu-phubhakdi, R. Bhidayasiri (Bangkok, Thailand)

    Objective: To examine the prevalence of genetic causes in young-onset Parkinson’s disease (YOPD) patients with levodopa-induced dyskinesia (LID) in Thailand using a next-generation sequencing (NGS)…
  • MDS Virtual Congress 2020

    Characterizing Global Cohorts with Monogenic Parkinson’s Disease

    E.J Vollstedt, S. Schaake, M. Kasten, K. Lohmann, C. Klein (Lübeck, Germany)

    Objective: To clinically and genetically characterize a global sample of subjects with monogenic Parkinson’s disease (mPD) and unaffected mutation carriers. Background: Publications on patients with…
  • MDS Virtual Congress 2020

    Screening of mutations in PARK2 gene and Dopamine levels in Parkinson’s disease (PD) patients in Coimbatore population, India

    I. Iyer, V. Venkatesan, V. Vellingiri (Coimbatore, India)

    Objective: The aim of the present study was to perform the mutational screening of PARK2 gene and dopamine level in PD patients of Coimbatore population,…
  • MDS Virtual Congress 2020

    Comparative diagnostic accuracy of ACE-III and MoCA for detecting mild cognitive impairment patients with Parkinson’s disease

    H. Zheng, D. Huang, C. Xu, Y. sun (Nanjing, China)

    Objective: Due to the high prevalence of mild cognitive impairment (MCI) in Parkinson disease (PD), routine cognitive screening is important for the optimal management of…
  • MDS Virtual Congress 2020

    The interaction of Parkin and TAF15 for the Drosophila in which neuronal defect was induced

    E.J Choi, D.G Lee, CC. Cui, K.Y Kim (Ulsan, Republic of Korea)

    Objective: Our study proposes a novel regulator for the protection of TAF15-induced proteinopathy and adds to our understanding of the exact pathogenic mechanism for TAF15-induced…
  • 2019 International Congress

    Dissecting the genetic complexity of Parkinson’s disease: a Parkin-GBA study

    Z. Hanss, I. Boussaad, F. Massart, J. Jarazo, R. Krüger (Belvaux, Luxembourg)

    Objective: In this study, we investigate how the PD risk factor GBA would affect the cellular phenotypes associated with homozygous mutations in Parkin, causing an…
  • 2019 International Congress

    Registration Algorithm of DBS Preoperative Image and ICBM-152 Atlas

    H. Zheng, S. Luo, S. Cao, D. Huang, C. Xu (Nanjing, China)

    Objective: As we all know, there would be some distortions of electrodes or even distortions of patient's brain images when matching the brain atlases with…
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