Repositorio Dspace

Listar por autor "Madoev, Harutyun"

Listar por autor "Madoev, Harutyun"

Ordenar por:Orden:Resultados:

  • Classification and Genotype-Phenotype Relationships of GBA1 Variants: MDSGene Systematic Review 
    Rossi, Malco Damián; Schaake, Susen; Usnich, Tatiana; Boehm, Josephine; Steffen, Nina; Schell, Nathalie; Krüger, Clara; Gül-Demirkale, Tuğçe; Bahr, Natascha; Kleinz, Teresa; Madoev, Harutyun; Laabs, Björn-Hergen; Gan-Or, Ziv; Alcalay, Roy N.; Lohmann, Katja; Klein, Christine (Wiley, 2025-02-10)
    Depending on zygosity and the specific change, different variants in the GBA1 gene can cause Parkinson's disease (PD, PARK-GBA1) with reduced penetrance, act as genetic risk factors for PD or parkinsonism, and/or lead to ...
  • Establishing an online resource to facilitate global collaboration and inclusion of underrepresented populations: Experience from the MJFF Global Genetic Parkinson's Disease Project 
    Vollstedt, Eva-Juliane; Madoev, Harutyun; Aasly, Anna; Ahmad-Annuar, Azlina; Al-Mubarak, Bashayer; Alcalay, Roy N.; Alvarez, Victoria; Amorin, Ignacio; Annesi, Grazia; Arkadir, David; Bardien, Soraya; Barker, Roger A.; Barkhuizen, Melinda; Basak, A. Nazli; Bonifati, Vincenzo; Boon, Agnita; Brighina, Laura; Brockmann, Kathrin; Belin, Andrea Carmine; Merello, Marcelo (Public Library of Science, 2023-10-03)
    Parkinson's disease (PD) is the fastest-growing neurodegenerative disorder, currently affecting ~7 million people worldwide. PD is clinically and genetically heterogeneous, with at least 10% of all cases explained by a ...