Zobrazeno 1 - 10
of 214
pro vyhledávání: '"Jan O. Aasly"'
Autor:
Carolin Gabbert, Susen Schaake, Theresa Lüth, Christoph Much, Christine Klein, Jan O. Aasly, Matthew J. Farrer, Joanne Trinh
Publikováno v:
BMC Genomics, Vol 24, Iss 1, Pp 1-8 (2023)
Abstract Background GBA1 variants are the strongest genetic risk factor for Parkinson’s disease (PD). However, the pathogenicity of GBA1 variants concerning PD is still not fully understood. Additionally, the frequency of GBA1 variants varies widel
Externí odkaz:
https://doaj.org/article/66c0687e8cf4413393014cc3043ff3b4
Publikováno v:
Journal of Movement Disorders, Vol 14, Iss 3, Pp 214-220 (2021)
Objective Few studies have followed Parkinson’s disease (PD) patients from the time of diagnosis to the date of death. This study compared mortality in the Trondheim PD cohort to the general population, investigated causes of death and analyzed the
Externí odkaz:
https://doaj.org/article/f8ef12484ad742058355fe23e986ef72
Autor:
Nour K. Majbour, Jan O. Aasly, Eldbjørg Hustad, Mercy A. Thomas, Nishant N. Vaikath, Naser Elkum, Wilma D. J. van de Berg, Takahiko Tokuda, Brit Mollenhauer, Henk W. Berendse, Omar M. A. El-Agnaf
Publikováno v:
Translational Neurodegeneration, Vol 9, Iss 1, Pp 1-10 (2020)
Abstract Background Asymptomatic carriers of leucine-rich repeat kinase 2 (LRRK2) gene mutations constitute an ideal population for discovering prodromal biomarkers of Parkinson’s disease (PD). In this study, we aim to identify CSF candidate risk b
Externí odkaz:
https://doaj.org/article/ee5ec5df964e4d5e95f941a5372ac1af
Autor:
Jan O. Aasly
Publikováno v:
Journal of Movement Disorders, Vol 13, Iss 2, Pp 81-96 (2020)
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 known environmental or genetic causes. Since t
Externí odkaz:
https://doaj.org/article/60d50397e98d497fbc4c674a9ac79d94
Autor:
Jan O. Aasly
Publikováno v:
Frontiers in Neuroscience, Vol 15 (2021)
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 LRRK2 phenotype. The prevalence of autosomal dominant PD varies around the world mainly
Externí odkaz:
https://doaj.org/article/43882ce9cb6c40d7afdc57239ff5456b
Autor:
Anna Aasly, Jan O. Aasly
Publikováno v:
Behavioural Neurology, Vol 2021 (2021)
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 evaluated according to methods for assessments of
Externí odkaz:
https://doaj.org/article/b5377e5af39b4a73bca049541b6cc950
Autor:
Sylvie Delcambre, Jenny Ghelfi, Nassima Ouzren, Léa Grandmougin, Catherine Delbrouck, Philip Seibler, Kobi Wasner, Jan O. Aasly, Christine Klein, Joanne Trinh, Sandro L. Pereira, Anne Grünewald
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
Several mutations in leucine-rich repeat kinase-2 (LRRK2) have been associated with Parkinson's disease (PD). The most common substitution, G2019S, interferes with LRRK2 kinase activity, which is regulated by autophosphorylation. Yet, the penetrance
Externí odkaz:
https://doaj.org/article/1ebd40586a1b4db891732da8ccc4aff2
Autor:
Eldbjørg Hustad, Jan O. Aasly
Publikováno v:
Frontiers in Neurology, Vol 11 (2020)
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 common, due to overlap of symptoms with other neurodegen
Externí odkaz:
https://doaj.org/article/50824f01d22c4b2bb54d6e42ea6bc5bd
Autor:
Ali Yilmaz, Zafer Ugur, Ilyas Ustun, Sumeyya Akyol, Ray O. Bahado-Singh, Michael Maddens, Jan O. Aasly, Stewart F. Graham
Publikováno v:
Cells, Vol 9, Iss 11, p 2394 (2020)
CSF from unique groups of Parkinson’s disease (PD) patients was biochemically profiled to identify previously unreported metabolic pathways linked to PD pathogenesis, and novel biochemical biomarkers of the disease were characterized. Utilizing bot
Externí odkaz:
https://doaj.org/article/271de77f580c4175a68e23da7922feda
Publikováno v:
Frontiers in Aging Neuroscience, Vol 10 (2018)
Autophagy removes both functional and damaged intracellular macromolecules from cells via lysosomal degradation. Three autophagic mechanisms, namely macroautophagy, chaperone-mediated autophagy (CMA), and microautophagy, have been described in mammal
Externí odkaz:
https://doaj.org/article/cb89f995a6e3466aaeb145d020703310